Neuromuscular Disorders

Journal Profile & Journal Metrics
Neuromuscular Disorders
Journal Profile

About

This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies).The Editors welcome original articles from all areas of the field:• Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery).• Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics.• Studies of animal models relevant to the human diseases.The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders. Neuromuscular Disorders is a peer-reviewed medical journal that focuses on neuromuscular disease, including muscular dystrophy, spinal muscular atrophy, and myasthenia. It is the official journal of the World Muscle Society. It was established in 1991 and is published by Elsevier.

Highly Cited Keywords

ISSN
0960-8966
ISSN

The ISSN of Neuromuscular Disorders is 0960-8966 . An ISSN is an 8-digit code used to identify newspapers, journals, magazines and periodicals of all kinds and on all media–print and electronic.

ISSN (Online)
1873-2364
ISSN (Online)

The ISSN (Online) of Neuromuscular Disorders is 1873-2364 . An ISSN is an 8-digit code used to identify newspapers, journals, magazines and periodicals of all kinds and on all media–print and electronic.

Publisher
Elsevier Ltd.
Publisher

Neuromuscular Disorders is published by Elsevier Ltd. .

Publication Frequency
-
Publication Frequency

Neuromuscular Disorders publishes reports - .

Coverage
1991 - Present
Coverage

The Publication History of Neuromuscular Disorders covers 1991 - Present .

Open Access
NO
Open Access

Neuromuscular Disorders is Subscription-based (non-OA) Journal. Publishers own the rights to the articles in their journals. Anyone who wants to read the articles should pay by individual or institution to access the articles. Anyone who wants to use the articles in any way must obtain permission from the publishers.

Publication Fee
Publication Fee

There is no publication fee for submiting manuscript to Neuromuscular Disorders. Neuromuscular Disorders is Subscription-based (non-OA) Journal. Publishers own the rights to the articles in their journals. Anyone who wants to read the articles should pay by individual or institution to access the articles.

Language
-
Language

The language of Neuromuscular Disorders is - .

Country/Region
United Kingdom
Country/Region

The publisher of Neuromuscular Disorders is Elsevier Ltd. , which locates in United Kingdom .

Selected Articles

Full Title Authors
Full Title Authors
Corrigendum toCongenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up[Neuromuscular Disorders 28/4 (2018) 315–322] José Manuel Pardal-Fernández · María Carmen Carrascosa-Romero · S. Álvarez · M.C. Medina-Monzón · M. Bengoa Caamaño · C. de Cabo · C. de Cabo
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant A.M. Khan · T. Sultan · Y. Kriouile · M. Pipis · J. Vandrovcova · H. Tariq · S. Efthymiou · V. Salpietro · M.M. Reilly · Henry Houlden · Henry Houlden
Pulmonary function in patients with advanced-stage Duchenne muscular dystrophy: eteplirsen-treated patients compared with a natural history cohort P. Ala · Silvia Torelli · R. Phadke · L. Feng · R. Main · D. Ardicli · Anna Sarkozy · F. Muntoni · F. Muntoni
Novel valosin-containing protein mutations associated with multisystem proteinopathy B. O’Callaghan · Michael G. Hanna · J.E. Morgan · H. Houlden · M. Madej · M. Madej
Correlation between flow cytometry, histology and genetic findings for the diagnosis of collagen VI-related myopathies Richard Webster · A. Vanhaesebrouck · Susan Maxwell · Judy Cossins · D.M.W. Beeson · D.M.W. Beeson
In vitro modelling of mitochondrial disease using human induced pluripotent stem cell (hIPSC) derived myotubes harbouring mtDNA mutations Giulia Ferrari · H. Hoshiya · Martina Ragazzi · T. Casteels · S.M. Maffioletti · Narumi Uno · Yasuhiro Kazuki · Francesco Muntoni · Mitsuo Oshimura · Francesco Saverio Tedesco · Francesco Saverio Tedesco
Functional characterisation of a mouse model of DOK7 congenital myasthenic syndrome and response to treatment with salbutamol S. Chatfield · S. Booth · R. Godfrey · J. Pattni · R. Scalco · R. Quinlivan · R. Quinlivan
Combining iPS cell-derived myogenic progenitors and human artificial chromosomes as a potential genomic integration-free cell and gene therapy for Duchenne muscular dystrophy J.M. Pitchforth · Joana Domingos · M. Iodice · Anna Mayhew · Francesco Muntoni · Francesco Muntoni
Evaluating the 12-minute walk test in McArdle disease Caitlin S. Latimer · Jennifer Schleit · Adam Reynolds · Desiree A. Marshall · Benjamin Podemski · Leo H. Wang · Luis F. Gonzalez-Cuyar · Luis F. Gonzalez-Cuyar
Determination of the minimal clinically important difference (MCID) for clinical trial outcome measures in Duchenne Muscular Dystrophy (DMD) K. Thompson · N. Mai · M. Oláhová · F. Scialo · L.E. Formosa · D.A. Stroud · M. Garett · N.Z. Lax · C. Jou · A. Nascimento · C. Ortez · C. Jimenez-Mallabrera · Steven A. Hardy · Langping He · Garry K. Brown · P. Marttinen · Robert McFarland · A. Sanz · B.J. Battersby · P.E. Bonnen · M.T. Ryan · Zofia M.A. Chrzanowska-Lightowlers · Robert N. Lightowlers · Robert W. Taylor · Robert W. Taylor
Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction T. Gomes · A.C. Jimenez-Moreno · A. Roos · A. Roos
Profile of circadianly regulated metabolic genes in dystrophic heart Claire Delbridge · Matthias Türk · Abbas Agaimy · Martin Winterholler · Rolf Schröder · Rolf Schröder
Genetic investigation of inherited neuropathy in families from Middle East using next generation sequencing T.L.E. van Westering · Anna M.L. Coenen-Stass · Margriet Hulsker · Annemieke Aartsma-Rus · Matthew J.A. Wood · M. van Putten · Thomas C. Roberts · Thomas C. Roberts
RNA toxicity versus GSK3B dysfunction in myotonic dystrophy type 1: an exploratory review of the literature V. Sarajarvi · Bernadett Kalmar · I. Fernandes · Mary M. Reilly · Linda Greensmith · Linda Greensmith
Extracellular myomiR abundance is not clearly correlated with skeletal muscle dystrophin expression in mdx mice with skewed X-chromosome inactivation S.M. Maffioletti · Shilpita Sarcar · A.B.H. Henderson · Ingra Mannhardt · Luca Pinton · Louise A. Moyle · Heather B. Steele-Stallard · Ornella Cappellari · Kim E. Wells · Martina Ragazzi · W. Wang · Peter S. Zammit · Dominic J. Wells · Thomas Eschenhagen · Francesco Saverio Tedesco · Francesco Saverio Tedesco
Do diverse Charcot-Marie-Tooth disease-causing mutations show convergent disease pathomechanisms? Investigation of mitochondrial dysfunction in CMT M. Oláhová · J. Collier · J. Heidler · K. Thompson · Robert N. Lightowlers · Zofia M.A. Chrzanowska-Lightowlers · I. Wittig · Robert W. Taylor · Robert W. Taylor
Generation of three-dimensional artificial skeletal muscle constructs from human pluripotent stem cells for complex disease modelling of muscular dystrophies M. Kapoor · Aisling Carr · Michael P. Lunn · Mary M. Reilly · Mary M. Reilly
CRISPR/Cas9-mediated knockout of RTN4IP1 leads to a severe Complex I assembly defect V. Mariot · C. Le Guiner · B. Inès · C. Hourdé · Marie Montus · Stéphane Blot · Thomas Voit · J. Dumonceaux · J. Dumonceaux
Comparison of clinical factors that impact disease activity in patients with inflammatory neuropathies Francesco Muntoni · Mike Hanna · Mary M. Reilly · Mary M. Reilly
Myostatin is a reliable biomarker for monitoring drug response in DMD M. Pezet · A. Gomez-Duran · Juvid Aryaman · Nick S. Jones · Patrick F. Chinnery · Patrick F. Chinnery
Can forced vital capacity (FVC) or maximal inspiratory pressure (MIP) be used to predict changes in mobility, swallowing and/or cough peak flow in patients with type 1 myotonic dystrophy? Sejad Al-Tahan · Ebaa Al-Obeidi · Hiroshi Yoshioka · Anita Lakatos · Lan Weiss · Marjorie R. Grafe · Johanna Palmio · Matt Wicklund · Yadollah Harati · Molly Omizo · Bjarne Udd · Virginia E. Kimonis · Virginia E. Kimonis
Targeting ubiquitin pathways to develop new therapies for neuromuscular disease Heather Gordish-Dressman · Erik Henricson · L. Han · A. Dugar · Craig M. McDonald · Craig M. McDonald
Adrenergic agonists modulate neuromuscular junction formation in zebrafish models of human myasthenic syndromes C. Massey · J. Allen · N. Nikolenko · L. Speigel · A.C. Jimenez-Moreno · Hanns Lochmüller · Chris Turner · Chris Turner
Multiple administration of allo-CDCs showed additional improvement when compared with single treatment in a Duchenne muscular dystrophy model T.H. Gillingwater · T.H. Gillingwater
Perivascular hemosiderin deposits in human skeletal muscle tissue H. Zhou · C.M. Perez · F. Muntoni · F. Muntoni
Therapeutic advances in hereditary ATTR amyloidosis N. James · S. Holmes · I. Skorupinska · L. Germain · R. Sud · M.G. Hanna · E. Matthews · E. Matthews
Update of antisense oligonucleotide therapy in COL6-related congenital muscular dystrophy R. Sullivan · E. O’Connor · David S. Lynch · M.G. Hanna · Henry Houlden · Henry Houlden
Pilot study to explore the frequency and severity of pain in skeletal muscle channelopathies P. Sivakumar · J. Humphrey · K. Lo · T. Ricketts · H. Oliveira · Bernadett Kalmar · Eric T. Wang · David E. Housman · F. Baralle · Linda Greensmith · E. Buratti · V. Plagnol · E.M.C. Fisher · A.A. Arozena · P. Fratta · P. Fratta
Novel loss-of-function mutation in ACBD5 found in family with ataxia R. Harron · Dominic J. Wells · Richard J. Piercy · Richard J. Piercy
Dissecting TDP-43 gain- and loss-of-function in neurodegeneration M. Pal-Magdics · Rahul Phadke · C. Pilkington · S.L. Maltby · M. Wood · P. Munot · Adnan Y. Manzur · A. Sarkozy · A. Sarkozy
Assessment of a 6-minute walk test (6MWT) for non-invasive, phenotypic evaluation of deltaE50-MD dogs, a preclinical model of Duchenne muscular dystrophy John C.W. Hildyard · F. Rawson · R. Harron · D. Riddell · Claire Massey · F. Taylor-Brown · Dominic J. Wells · Richard J. Piercy · Richard J. Piercy
Diagnostic challenges in paediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) necrotizing myopathy M. Scoto · A. Manzur · M. Main · P. Munot · R. Tillmann · C. Marini Bettolo · Anna Mayhew · R. Muni-Lofra · Karen L. White · P. Baxter · S. Tirupathi · I. Douglas · M. Douglas · S. Macauley · A.-M. Childs · D. O’Rourke · L. Hartley · I. Hughes · G. McCullagh · S. Spinty · R. Madhu · S. Gregson · V. Gowda · E. Wraige · I. Horrocks · A. Brunklaus · M. Di Marco · J. Dunne · S. Brown · R. Mochrie · M. Illingworth · D. Krishnakumar · M. Kirkpatrick · S. Ramdas · K. Vijayakumar · V. Selby · R. Kulshrestha · T. Willis · Volker Straub · Francesco Muntoni · Francesco Muntoni
Characterising the skeletal muscle histological phenotype of the DeltaE50-MD dog, a preclinical model of Duchenne muscular dystrophy C. Lawrence · A. Warnock · Craig M. McDonald · Oscar H. Mayer · Thomas Meier · Mika Leinonen · G. Buyse · G. Buyse
The use of nusinersen in thereal world: the UK and Ireland experience with the expanded access program (EAP) C. Hocking · J. McLean · S. Cumming · B. Ballantyne · J. McGhie · R. Jampana · Cheryl Longman · Maria Elena Farrugia · Darren G. Monckton · M.J. Hamilton · M.J. Hamilton
Effect of idebenone on bronchopulmonary adverse events and hospitalizations in patients with Duchene muscular dystrophy (DMD) L. Nastasi · M. Desikan · S. Price · F. Crummy · J. Khan · M.G. Hanna · R. Quinlivan · R. Quinlivan
Masseter muscle volume correlates with disease duration in adults with myotonic dystrophy type 1 (DM1) Juliane S. Müller · B. Munro · Rita Horvath · Rita Horvath
Analysis of premature mortality in a cohort of adult Duchenne muscular dystrophy A. Holland · M. Varela · G. Hazell · A.F. Klein · A. Arzumanov · R. Raz · Michael J. Gait · D. Furling · Matthew J.A. Wood · Matthew J.A. Wood
Using zebrafish to model mitochondrial DNA depletion syndromes caused by DGUOK mutations R. Horvath · R. Horvath
Proteomic evaluation of Pip6a-PMO treatment for myotonic dystrophy type 1 K. Suetterlin · N. James · R. Sud · S. Holmes · D. Fialho · M.G. Hanna · E. Matthews · E. Matthews
Genes, modifiers and other oddities in mitochondrial translation deficiencies J. Johnson · S. Kanagavelu · H. Rachid · C. Sakoda · L. Li · S. Vaturi · M. Fournier · R. Smith · L. Marban · R. Al-Daccak · L. Rodriguez-Borlado · L. Rodriguez-Borlado
An audit of acetazolamide use in genetic channelopathies Grace McMacken · Daniel Cox · Andreas Roos · Juliane S. Müller · Roger G. Whittaker · Hanns Lochmüller · Hanns Lochmüller
Dr Joana Domingos (1984–2018) A. Pietrusz · R. Scalco · R. Quinlivan · R. Quinlivan
Understanding the mechanism underpinning the transmission of mtDNA mutations K. Alyodawi · K. Patel · K. Patel
Strength training in McArdle disease E. Curtis-Wetton · J.A. Ross · Y. Levy · J.J. Vilchez · Julien Ochala · Julien Ochala
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair Volker Straub · Eugenio Mercuri · Eugenio Mercuri
Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017 A. Silwal · Matthew Pitt · R. Phadke · K. Mankad · J.E. Davison · Alexander M. Rossor · C. DeVile · Mary M. Reilly · Adnan Y. Manzur · Francesco Muntoni · P. Munot · P. Munot
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy R. Kulshrestha · C. Sewry · F. Muntoni · T. Willis · P. Munot · P. Munot
Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy R. Finkel · Krista Vandenborne · H.L. Sweeney · Erika L. Finanger · Gihan Tennekoon · Perry B. Shieh · Rebecca J. Willcocks · Sean C. Forbes · William Triplett · Sabrina W. Yum · M. Mancini · M. Friedman · A. Fretzen · J. Donovan · J. Donovan
Myotonia congenita in a Labrador Retriever with truncated CLCN1 Ann-Kathrin Zaum · Konstantinos Kolokotronis · Wolfram Kress · Hans-Hilmar Goebel · Simone Rost · Jürgen Seeger · Jürgen Seeger
Sensitivity and clinical utility of the anti-cytosolic 5′-nucleotidase 1A (cN1A) antibody test in sporadic inclusion body myositis: Report of 40 patients from a single neuromuscular center T.E. Doris · A. Bowron · A. Armstrong · B. Messer · B. Messer
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy Jan Leo Rinnenthal · Carsten Dittmayer · Kerstin Irlbacher · Irene Wacker · Rasmus R. Schröder · Hans-Hilmar Goebel · Catherine Butori · Luisa Villa · Sabrina Sacconi · Werner Stenzel · Werner Stenzel
Ketoacidosis in Duchenne muscular dystrophy: A report on 4 cases I. Vandersmissen · V. Biancalana · L. Servais · James J. Dowling · G. Vander Stichele · S. Van Rooijen · L. Thielemans · L. Thielemans
New variant of necklace fibres display peculiar lysosomal structures and mitophagy Jake Plewa · Abhilasha Surampalli · Marie Wencel · Merit Milad · Sandra Donkervoort · Sandra Donkervoort · Vincent J. Caiozzo · Namita Goyal · Tahseen Mozaffar · Virginia E. Kimonis · Virginia E. Kimonis
An integrated modelling methodology for estimating the prevalence of centronuclear myopathy Inês Rego de Figueiredo · Sara Guerreiro Castro · Vera Bernardino · José Silva Nunes · Pedro Alves · Maria Francisca Moraes-Fontes · Maria Francisca Moraes-Fontes
A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene Haneul Jeong · Ji Sook Yi · Ji Sook Yi · Young Han Lee · Jung Hwan Lee · Ha Young Shin · Young-Chul Choi · Seung Min Kim · Seung Min Kim
Juvenile dermatomyositis forty years on: Case report P. Munot · I. Zaharieva · L. Hartley · R. Phadke · C. Sewry · L. Feng · R. Sud · M.G. Hanna · E. Matthews · F. Muntoni · F. Muntoni
Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients Thomas Meier · Mika Leinonen · G. Buyse · G. Buyse
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding Rianne J.M. Goselink · Nicol C. Voermans · Kees Okkersen · Oebele F. Brouwer · George W. Padberg · Ana Nikolic · Rossella Tupler · Małgorzata Dorobek · Jean K. Mah · Baziel G.M. van Engelen · Tim H. A. Schreuder · Corrie E. Erasmus · Corrie E. Erasmus
Acute colonic distension in a patient with severe muscular dystrophy receiving non-invasive positive pressure ventilation Jun Fu · Yun Yuan · Yun Yuan
Early involvement of the supinator muscle in duchenne muscular dystrophy Dongyue Yue · Wenhua Zhu · Chongbo Zhao · Chongbo Zhao
Clinical phenotypes and trajectories of disease progression in type 1 Spinal Muscular Atrophy Elizabeth Harris · Chiara Marini-Bettolo · Ana Töpf · Rita Barresi · Tuomo Polvikovski · Geraldine Bailey · Richard Charlton · James Tellez · Daniel G. MacArthur · M. Guglieri · Hanns Lochmüller · Kate Bushby · Volker Straub · Volker Straub
A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot–Marie–Tooth disease Elena Ikenberg · Ivan Karin · Birgit Ertl-Wagner · Angela Abicht · Stefanie Bulst · Sabine Krause · Benedikt Schoser · Peter Reilich · Maggie C. Walter · Maggie C. Walter
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen Yilmaz Yildiz · Rikke K.J. Olsen · Hatice Serap Sivri · Zuhal Akçören · Helle Highland Nygaard · Aysegul Tokatli · Aysegul Tokatli
Nutrition in Duchenne muscular dystrophy 16–18 March 2018, Zaandam, the Netherlands Theerawat Kumutpongpanich · Weerapat Owattanapanich · Jantima Tanboon · Ichizo Nishino · Kanokwan Boonyapisit · Kanokwan Boonyapisit
Prevent skeletal muscle aging signs in progeric mice model: is it possible? Pietro Spitali · Kristina M. Hettne · Roula Tsonaka · E. Sabir · A. Seyer · J.B.A. Hemerik · J.J. Goeman · Esther Picillo · Manuela Ergoli · Luisa Politano · Annemieke Aartsma-Rus · Annemieke Aartsma-Rus
Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy M. Janssen · Jaap Harlaar · Hubertus F.J.M. Koopman · I. de Groot · I. de Groot
What is wrong with nuclei in Transportin 3 (TPNO3)-related muscular dystrophy? M. Pipis · Alexander M. Rossor · James M. Polke · Andrea Cortese · Mary M. Reilly · Mary M. Reilly
Metabolomics analysis in serum of muscular dystrophy patients M. Murphy · M. Murphy
Frequency of genetic variants in Charcot-Marie-Tooth disease: how many is too many? Ione Meyer · Giampietro Schiavo · Giampietro Schiavo
Manipulating mitochondrial ROS production as a therapeutic strategy R. Scalco · Jasper M. Morrow · Andreea Manole · I. Skorupinska · A. Bellin · F. Ricciardi · E. Matthews · M.G. Hanna · D. Fialho · D. Fialho
The role of nidogens, a family of basement membrane proteins, at the neuromuscular junction in health and degeneration K. Johnson · M. Bertoli · L. Phillips · Alison Blain · M. Ensini · Ana Töpf · Monkol Lek · Liwen Xu · Thomas E. Mullen · Elise Valkanas · Daniel G. MacArthur · Volker Straub · Volker Straub
RCT of bumetanide in hypokalaemic periodic paralysis (HypoPP) using abductor digiti minimi compound muscle action potential (CMAP) as an objective outcome measure Annemieke Aartsma-Rus · Eugenio Mercuri · Elizabeth Vroom · Pavel Balabanov · Pavel Balabanov
An international collaboration applying targeted whole exome sequencing to detect causative variants in 1001 patients affected by limb-girdle weakness of unknown origin I. Skorupinska · E. Bugiardini · M.G. Hanna · R.D.S. Pitceathly · R.D.S. Pitceathly
Meeting report of theRegulatory Exchange Matterssession at the 5th International TREAT-NMD Conference: V. Selby · Gita Ramdharry · M.G. Hanna · Francesco Muntoni · Francesco Muntoni
Natural history and mortality studies in mitochondrial diseases: a systematic literature review S. Keddie · D. Foldes · F. Caimari · S.E. Baldeweg · S. D’Sa · Michael P. Lunn · Michael P. Lunn
Development of a home-based assessment tool for monitoring fluctuations in physical function and muscle performance in the myasthenic population O. Ziff · V. Lombardi · L. Zampedri · G. Querin · C. Bertolin · L. Greensmith · M. Hanna · H. Zetterberg · A. Heslegrave · Gianni Sorarù · Andrea Malaspina · P. Fratta · P. Fratta
The natural history of POEMS syndrome D. Ardicli · I. Zaharieva · R. Phadke · M.C. Scoto · L.M. Borrel · S. Laurie · S.B. Agullo · Anna Sarkozy · F. Muntoni · F. Muntoni
Muscle and neuronal peripheral biomarkers for spinal and bulbar muscle atrophy: muscle holds more promise H. Prokisch · H. Prokisch
A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features P. Trifillis · C. Werner · M. Souza · G. Elfring · X. Luo · J. McIntosh · S.W. Peltz · S.W. Peltz
Slope analysis of 6-minute walk distance as an alternative method to determine treatment effect in trials in Duchenne muscular dystrophy Volker Straub · A. Murphy · Bjarne Udd · Bjarne Udd
Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy Binghao Wang · Xiaobo Li · Junpu Wang · Lei Liu · Yongzhi Xie · Shunxiang Huang · Pukar Singh Pakhrin · Qingwen Jin · Chunmei Zhu · Beisha Tang · Qi Niu · Ruxu Zhang · Ruxu Zhang
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 Lingchao Meng · Jun Fu · He Lv · Wei Zhang · Zhaoxia Wang · Yun Yuan · Yun Yuan
A novel AIFM1 mutation in a Chinese family with X-linked Charcot–Marie–Tooth disease type 4 Armando Totomoch-Serra · Manlio F. Márquez · David E. Cervantes-Barragán · David E. Cervantes-Barragán
Use of a ≥5-second threshold in baseline time to stand from supine to predict disease progression in Duchenne muscular dystrophy P. Hawkins · P. Hawkins
Potential and challenges of using NMRI/NMRS as a biomarker/endpoint for clinical studies in neuromuscular disease Craig M. McDonald · M. Souza · G. Elfring · J. McIntosh · C. Werner · P. Trifillis · S.W. Peltz · E. Mercuri · E. Mercuri
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes Mauro Scarpelli · Lidia Carreño-Gago · Anna Russignan · Noemi de Luna · Clara Carnicer-Cáceres · Alessandra Ariatti · Lorenzo Verriello · G. Devigili · Paola Tonin · Elena García-Arumí · Tomàs Pinós · Tomàs Pinós
Strengthening the neuromuscular junction as a concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction I. Zaharieva · E. Bollen · M. Scoto · Haiyan Zhou · F. Muntoni · F. Muntoni
Oligonucleotide therapies for neuromuscular disease Carl Fratter · K. Sergeant · C Smith · R. Brown · A. Seller · Garry K. Brown · Joanna Poulton · Joanna Poulton
Golodirsen induces exon skipping leading to sarcolemmal dystrophin expression in patients with genetic mutations amenable to exon 53 skipping L. Compton · M. Kapoor · J. Groves · L. Nihoyannopoulos · R. Cade · S. Morrow · D. Gosal · Alexander M. Rossor · H. Manji · Mary M. Reilly · Michael P. Lunn · Aisling Carr · T. Lavin · T. Lavin
Mitochondrial genetic diagnostics in Oxford: a 25-year journey of service developments and novel findings Amy E. Vincent · Hannah S. Rosa · K. Pabis · C. Lawless · A. Grünewald · C. Chen · Karolina A. Rygiel · A.K. Reeve · Mariana C. Rocha · Gavin Falkous · V. Perissi · T.G. McWilliams · I.G. Ganley · K. White · T. Davey · B.J. Petrof · A.A. Sayer · C. Cooper · Robert W. Taylor · Douglass M. Turnbull · M. Picard · M. Picard
Clinical relevance of regular blood monitoring in long-term immunoglobulin treatment F. Catapano · Joana Domingos · Mark M. Perry · Valeria Ricotti · L. Phillips · L. Servais · I. de Groot · Erik H. Niks · J. Verschuuren · Volker Straub · Thomas Voit · Jennifer E. Morgan · Francesco Muntoni · Francesco Muntoni
Clonally expanded mtDNA deletions in human skeletal muscle originate as a proliferative perinuclear niche K.E. Maresh · K. Seunarine · C. Clark · Francesco Muntoni · Francesco Muntoni
Downregulation of miR-29 and miR-23 in urine of Duchenne muscular dystrophy patients N.A. Haridy · V. Chelban · J. Vandrovcova · S. Efthymiou · M.A. Abd El-Hamed · S.A. Hamed · H. Houlden · H. Houlden
Longitudinal neuropsychological outcomes and structural connectivity of the brain in Duchenne muscular dystrophy R. Howarth · Sally Spendiff · Grace McMacken · S. Cipriani · Andreas Roos · Rita Horvath · Hanns Lochmüller · Hanns Lochmüller
Clinical and Genetic analysis of Egyptian hereditary spastic paraplegia using next generation sequencing R.J. Stefanetti · S. Dlay · M. Birch-Machin · R. Stout · C. Dyer · J. Newman · R. McFarland · D. Turnbull · M. Catt · G. Gorman · G. Gorman
Interrogating mitochondrial dysfunction and ageing in facial appearance and ageing A. Lam · Viruna Neergheen · Annapurna Chalasani · K. Salih · Simon Pope · Iain Hargreaves · H. Prunty · Simon Heales · Simon Heales
Serum biomarker discovery for Charcot-Marie-Tooth disease Corinne Betts · T.L.E. van Westering · Melissa Bowerman · Graham McClorey · Katharina E. Meijboom · Matthew J.A. Wood · Matthew J.A. Wood
In-depth analysis of circulating microRNAs in serum of SMA patients M.J. Hamilton · J. McLean · S. Cumming · B. Ballantyne · J. McGhie · R. Jampana · Cheryl Longman · J.J. Evans · Darren G. Monckton · Maria Elena Farrugia · Maria Elena Farrugia
Biochemical markers of primary mitochondrial respiratory chain enzyme disorders J. Domingos · C.G. Tay · Deborah Ridout · P. Munot · A. Sarkozy · S. Robb · R. Quinlivan · M. Riley · M. Burch · M. Fenton · C. Wallis · E. Chan · F. Abel · Adnan Y. Manzur · Francesco Muntoni · Francesco Muntoni
Outcome measures for central nervous system symptoms in myotonic dystrophy type 1: insights from a case-controlled study C. Thornton · C. Thornton
Cardiorespiratory function in Duchenne muscular dystrophy in a UK large tertiary care centre: longitudinal progression and the role of steroid treatment A. Gomez-Duran · Y. Xu · Z. Golder · Gavin Hudson · Mauro Santibanez-Koref · E. Ruiz-Pesini · Patrick F. Chinnery · Patrick F. Chinnery
Strategies for treating myotonic dystrophy type 1 (DM1) P. Cammish · L. Wood · Hanns Lochmüller · G. Gorman · G. Gorman
mtDNA polymorphic variants as metabolic hubs E. O’Connor · V. Phan · G. Cairns · I. Cordts · S. Hettwer · Andreas Roos · Hanns Lochmüller · Hanns Lochmüller
The UK Myotonic Dystrophy Patient Registry: a key tool in the facilitation of clinical research S.P. Burr · V.I. Floros · B. Gottgens · Patrick F. Chinnery · Patrick F. Chinnery
Testing a novel therapy in a MYO9A-related Congenital Myasthenic Syndrome zebrafish model A. Warnock · C. Lawrence · Mika Leinonen · G. Buyse · G. Buyse
Measuring activity and sedentary behaviour in people with muscle ion channelopathy and myotonic dystrophy type 1, and assessing the use of individual goal setting to support increasing habitual physical activity F. Muntoni · D. Frank · J. Morgan · Joana Domingos · F.J. Schnell · George Dickson · Linda Popplewell · M. Guglieri · A. Seferian · M. Monforte · E. Mercuri · L. Servais · Volker Straub · Volker Straub
Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A M.J.A. Wood · M.J.A. Wood
Muscle ultrasound elastography and MRI in preschool children with Duchenne muscular dystrophy S. Holmes · C. Massey · N. James · I. Skorupinska · K. Germain · L. Suetterlin · R. Sud · E. Matthews · M.G. Hanna · C. Turner · C. Turner
Diaphragmatic dysfunction as the presenting symptom in neuromuscular disorders: A retrospective longitudinal study of etiology and outcome in 30 German patients Soo Hyun Nam · Soo Hyun Nam · Sumaira Kanwal · Da Eun Nam · Min Hee Lee · Tae Hoon Kang · Sung-Chul Jung · Byung-Ok Choi · Byung-Ok Choi · Ki Wha Chung · Ki Wha Chung
Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats Ezequiel Fernandes Oliveira · Sergio Roberto Nacif · Jessica Julioti Urbano · Anderson Soares Silva · Claudia Santos Oliveira · Eduardo Araújo Perez · Melissa Nunes Polaro · Berenice Cataldo Oliveira Valério · Roberto Stirbulov · Giuseppe Insalaco · A. Oliveira · Luis Vicente Franco de Oliveira · Luis Vicente Franco de Oliveira
Proceedings of a Parent Project Muscular Dystrophy Bone Health Workshop J. Jarrett · R. Mantegazza · J. Sieb · J. Datt · J. Datt
Sporadic acute benign calf myositis: Systematic literature review R. Quinlivan · Antoni L. Andreu · Ramon Martí · Ramon Martí
Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy Vasiliki Zouvelou · Efstratios Karavasilis · Georgios Velonakis · Georgios Velonakis
Benign thymic enlargement in myasthenia gravis Enid E. Martinez · Enid E. Martinez · Nicolle Quinn · Kayla Arouchon · Rocco Anzaldi · Stacey Tarrant · Nina S. Ma · Nina S. Ma · John Griffin · Basil T. Darras · Basil T. Darras · Robert J. Graham · Robert J. Graham · Nilesh M. Mehta · Nilesh M. Mehta · Nilesh M. Mehta
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands Bruno Allard · Bruno Allard
Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach Enrica Bonanni · Luca Carnicelli · Davide Crapanzano · Michelangelo Maestri · Costanza Simoncini · Sigrid Baldanzi · Michela Falorni · Sergio Garbarino · Michelangelo Mancuso · Ubaldo Bonuccelli · Gabriele Siciliano · Gabriele Siciliano
From excitation to intracellular Ca2+ movements in skeletal muscle: Basic aspects and related clinical disorders Gitte Hedermann · Julia R. Dahlqvist · Nicoline Løkken · Christoffer R. Vissing · K. Knak · L. Andersen · Carsten Thomsen · John Vissing · John Vissing
Disruption of sleep-wake continuum in myotonic distrophy type 1: beyond conventional sleep staging Jane Miller · Jane Miller
Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA V. Russo · Andrea Antonio Papa · Anna Rago · Carmine Ciardiello · Marco Marano · Riccardo Proietti · Luisa Politano · Gerardo Nigro · Gerardo Nigro
22nd World Muscle Society Congress Saint Malo 2017 S. Marks · E. van Ruitenbeek · E. van Ruitenbeek · Penny Fallon · P. Johns · Rahul Phadke · Rachael Mein · Shehla Mohammed · Heinz Jungbluth · Heinz Jungbluth
Interatrial block to predict atrial fibrillation in myotonic dystrophy type 1 M. Inoue · A. Iida · S. Noguchi · Ikujiro Nonaka · Ichizo Nishino · Ichizo Nishino
Parental mosaicism in RYR1-related Central Core Disease W. Mauhin · Kuberaka Mariampillai · Y. Allenbach · Lucile Musset · Jean-Luc Charuel · O. Benveniste · O. Benveniste
TEMPORARY REMOVAL: Compliance to care guidelines for Duchenne muscular dystrophy in Italy Ann-Kathrin Zaum · Burkhard Stüve · Andrea Gehrig · Heike Kölbel · Ulrike Schara · Wolfram Kress · Simone Rost · Simone Rost
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease Brianna N. Brun · Tobias Willer · Benjamin W. Darbro · Hernan D. Gonorazky · Sergey Naumenko · James J. Dowling · Kevin P. Campbell · Steven A. Moore · Katherine D. Mathews · Katherine D. Mathews
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature Matthias Türk · Irina Weber · Gernot Vogt-Ladner · Rolf Schröder · Martin Winterholler · Martin Winterholler
Uniparental disomy unveils a novel recessive mutation in POMT2 Anna Pichiecchio · Francesco Alessandrino · Chandra Bortolotto · Alessandra Cerica · Cristina Rosti · Maria Vittoria Raciti · Marta Rossi · Angela Berardinelli · Giovanni Baranello · Stefano Bastianello · Fabrizio Calliada · Fabrizio Calliada
Investigating the mechanisms involved in germline transmission of a heteroplasmic mtDNA variant Amy E. Vincent · K. White · T. Davey · J. Philips · M.G. Hall · Y. Ng · Gavin Falkous · T. Holden · D. Deehan · Robert W. Taylor · Douglass M. Turnbull · M. Picard · M. Picard
Efficacy of idebenone in respiratory decline in Duchenne muscular dystrophy (DMD): comparison of analysis methods M Skorupinska · M Laura · Karen Bull · B. Byrne · Mary M. Reilly · Mary M. Reilly
Quantitative 3D mapping of the skeletal muscle mitochondrial network in health and mtDNA disease Alexander M. Rossor · Åsa Sandelius · Rocco Adiutori · Andrea Malaspina · Kaj Blennow · Henrik Zetterberg · Mary M. Reilly · Mary M. Reilly
Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype J. Horrigan · A. McMorn · M. Snape · N. Nikolenko · T. Gomes · H. Lochmuller · H. Lochmuller
AMO-02 (tideglusib) for the treatment of congenital and childhood onset myotonic dystrophy type 1 J.T. March · G. Dickson · Linda Popplewell · Linda Popplewell
Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases P. Sarraf · A. Habibi · A. Tafakhori · S. Ranji · D. Motamedi · S. Bitarafan · M. Ghaffarpour · M. Ghaffarpour
Development of CRISPR/dCas9 systems to address muscle fibrosis in Duchenne muscular dystrophy A. Ferlini · A. Ferlini
Unusual presentation of neuropathy related to lead toxicity mimicking Guillain-Barré syndrome K. Suetterlin · E. Matthews · Roope Männikkö · M.G. Hanna · M.G. Hanna
The changing scenario of molecular genetic diagnostics for neuromuscular diseases N. Zafeiropoulos · R.L. Janiczek · Tarek A. Yousry · E. De Vita · C.D.J. Sinclair · S. Wastling · John S. Thornton · John S. Thornton
Ataluren increases functional expression of R894X mutant skeletal muscle voltage gated chloride channels in vitro D. Riddell · R. Harron · F. Taylor-Brown · Dominic J. Wells · Richard J. Piercy · Richard J. Piercy
Slice profile-corrected maximum likelihood estimation of muscle water T 2 F.L. Raymond · F.L. Raymond
Progressive age-associated decline in resistance to electrically-induced repetitive eccentric tibiotarsal flexion torque in the deltaE50-MD dog J. Groves · L. Compton · M. Kapoor · Alexander M. Rossor · Hadi Manji · Mary M. Reilly · Michael P. Lunn · Aisling Carr · Aisling Carr
The genomic era: molecular genetics as the first line investigation T. Shetty · J.T. Nguyen · M. Sasaki · A. Wu · E. Bogner · A. Burge · T. Cogsil · A. Dalal · K. Halvorsen · K. Cummings · E.P. Su · S. Lyman · S. Lyman
Immunoglobulin dosing in inflammatory neuropathy: an induction, maintenance and cessation algorithm B. Kaspar · B. Kaspar
Risk factors for nerve injury after total knee arthroplasty: a case control study Amanda Ash · Lee Machado · Stuart M Raleigh · Karen Anthony · Karen Anthony
Gene delivery translation: lessons learned C. Warren · A.E. Vincent · A. Filby · Doug M. Turnbull · Doug M. Turnbull
Neuropathophysiology of Duchenne muscular dystrophy: involvement of the dystrophin isoform Dp71 in cell migration and proliferation Francesco Muntoni · E. Mercuri · X. Luo · G. Elfring · C. Werner · P. Trifillis · S.W. Peltz · Craig M. McDonald · Craig M. McDonald
Developing a novel technique of imaging mass cytometry for use in skeletal muscle E. Bugiardini · A.L.R. Mitchell · I. Dalla Rosa · M. Menunni · A. Pittmann · O. Poole · J. Holton · R. Quinlivan · Ian J. Holt · Henry Houlden · Michael G. Hanna · Antonella Spinazzola · R.D.S. Pitceathly · R.D.S. Pitceathly
Meta-analyses of ataluren in patients with nonsense mutation Duchenne muscular dystrophy B. Clarke · R. San Gil · J. Yip · B. Kalmar · L. Greensmith · L. Greensmith
Mitochondrial ribosomal protein S25 (MRPS25) mutations impair ribosomal assembly and cause mitochondrial encephalomyopathy with partial agenesis of the corpus callosum M.J. Jennings · Andreas Roos · Rita Horvath · Rita Horvath
Region specific glial stress responses: implications for ALS P.G. Carlier · P.G. Carlier
Skin cells for use in an alternate diagnostic method for Duchenne muscular dystrophy A. Bellin · Kate Bushby · P. Chinnery · L. Germain · D. Kozyra · Janice L. Holton · Henry Houlden · M Laura · Hanns Lochmüller · M. Lunn · B. McFarland · E. Matthews · J. Miller · Jasper M. Morrow · Francesco Muntoni · M. Parton · R.D.S. Pitceathly · R. Quinlivan · G. Ramdharry · A. Rossor · I. Skorupinska · M. Skorupinska · Volker Straub · J. Thornton · D.M. Turnbull · Chris Turner · Tarek A. Yousry · P. Machado · Mary M. Reilly · M.G. Hanna · M.G. Hanna
Reducing unplanned hospital admissions in patients with neuromuscular diseases: an NHS re-audit Lynn Tyers · Lester M. Davids · Jo M. Wilmshurst · Alina I. Esterhuizen · Alina I. Esterhuizen · Alina I. Esterhuizen
Monitoring pregnancy in Charcot-Marie-Tooth disease: complications related to pregnancy and delivery S.T. Ahmed · R. Ban · Mariana C. Rocha · S.J. Pickett · Robert W. Taylor · Douglass M. Turnbull · Douglass M. Turnbull
Zebrafish as a model of diseases of the RNA exosome V. Sardone · J. Domingos · Silvia Torelli · A. Jones · M. Ellis · Rahul Phadke · D. Eastwood · F. Leturcq · R.B. Yaour · F. Maqsood · K. Urankar · H. Roper · A. Majumdar · Rita Barresi · Volker Straub · E. Ricci · G. Bonne · C. Sewry · G. Tasca · J. Morgan · F. Muntoni · F. Muntoni
Plasma neurofilament light chain levels are raised in patients with inherited peripheral neuropathy and correlate with disease severity A. Vanhaesebrouck · R. Webster · Susan Maxwell · Wei Wei Liu · H. Cetin · J. Cheung · J. Wickens · David Beeson · David Beeson
Determining the threshold for Complex I and Complex IV deficiency in patients with the m.3243A>G MT-TL1 mutation N. Hornby · R. Drees · D.J. Wells · R.J. Piercy · R.J. Piercy
Beneficial effect of salbutamol added to pyridostigmine in myasthenic mice is directly related to neuromuscular junction structure changes V. Mariot · C. Le Guiner · B. Inès · C. Hourdé · Marie Montus · Stéphane Blot · Thomas Voit · J. Dumonceaux · J. Dumonceaux
MRI evaluation of the pelvic limb and lumbar muscles of the deltaE50-MD dog model of Duchenne muscular dystrophy K. Patel · K. Patel
Myostatin expression in neuromuscular diseases Roberto Fernández-Torrón · M. James · A. Mayhew · M. Eagle · R. Muni Lofra · Jordi Díaz-Manera · Andrew M. Blamire · Pierre G. Carlier · H. Hilsden · Tanya Stojkovic · Maggie C. Walter · E.M. Coppenrath · A. Peduto · Kristi J. Jones · A.M. Sawyer · C. Tesi Rocha · John W. Day · K. Bushby · Volker Straub · Volker Straub
The maintenance of muscle mass through the neutralisation of Myostatin activity in diseases and aging M. Sa · Anna Sarkozy · A. Manzur · F. Muntoni · F. Muntoni
Longitudinal upper limb muscle MRI in dysferlinopathy: examining the relationship between semi quantitative MRI and physiotherapy outcome measures A. Pietrusz · R. Scalco · R. Quinlivan · R. Quinlivan
Muscle MRI can be normal in children with RYR1 and COL6 gene-related myopathies V. Schartner · Norma B. Romero · Sandra Donkervoort · Susan Treves · P. Munot · Tyler Mark Pierson · Ivana Dabaj · Edoardo Malfatti · I. Zaharieva · Francesco Zorzato · Bruno Eymard · A.L. Taratuto · Anne Boland · Jean-François Deleuze · Valérie Biancalana · Susana Quijano-Roy · Francesco Muntoni · Carsten G. Bönnemann · J. Laporte · J. Laporte
McArdle disease patient completing the London Marathon with no serious adverse events Sarah J. Beecroft · R. Choi · Catriona McLean · Montse Olivé · Monique M. Ryan · Mark M. Davis · Nigel G. Laing · B. Launikonis · Gianina Ravenscroft · Gianina Ravenscroft
Neuro-muscular bridges: development of an evidence based selfmanagement resource for people with neuro-muscular diseases O.V. Poole · D. Murphy · C.E. Woodward · E. Bugiardini · J. Hardy · Henry Houlden · M.G. Hanna · A. Pittman · R.D.S. Pitceathly · R.D.S. Pitceathly
Preliminary data from a survey looking at walking aid use in people with Charcot-Marie-Tooth disease Stefen Brady · E. Wang · J. Carver · Monika Hofer · Alan Diot · D. Hilton · David Hilton-Jones · Joanna Poulton · Carl Fratter · Carl Fratter
Thehiddenmitochondrial genome: a novel bioinformatic approach for extracting and analysing mitochondrial DNA from nuclear genomic NGS sequence data at the Institute of Neurology, Queen Square H.E. Devine · B. Malik · J. Mitchell · Linda Greensmith · R. Patani · R. Patani
Low mitochondrial DNA copy number suggests abnormal mitophagy in inclusion body myositis A. Ketley · S. Ghidelli-Disse · P. Bamborough · T.K. Ghosh · S. Sedehizadeh · Z. Tang · P. Powalowska · M. Bösche · M. Bantscheff · M. Rüdiger · D.E. Mossakowska · D.H. Drewry · W.J. Zuercher · C.A. Thornton · G. Drewes · I. Uings · C.J. Hayes · J.D. Brook · J.D. Brook
Establishing motor neuron and astrocytic cultures to study spinal and bulbar muscular atrophy M. Oláhová · F. Scialo · A. Sriram · Charlotte L. Alston · L. He · G.K. Kokai · A. A. M. Morris · A. Sanz · Robert W. Taylor · Zofia M.A. Chrzanowska-Lightowlers · Robert N. Lightowlers · Robert N. Lightowlers
Identification of a novel kinase target in DM pathophysiology Jinhong Meng · J. Counsell · F. Muntoni · J.E. Morgan · J.E. Morgan
Variants in PTCD1 cause combined respiratory chain deficiency and mitoribosomal instability associated with infantile cardiomyopathy D.T. Burns · B. Munro · M. Giunta · Juliane S. Müller · Rita Horvath · Rita Horvath
Effects of mini-dystrophin on DMD skeletal muscle stem cells R. Scalco · L. Nastasi · M.G. Hanna · R. Quinlivan · R. Quinlivan
Picture of the monthExertional myalgia, contractures and annular erythema in a patient with muscle lactate dehydogenase (LDH) deficiency Yves Allenbach · Andrew L. Mammen · O. Benveniste · Werner Stenzel · Werner Stenzel
Molecular diagnostics of Mendelian disorders via RNA sequencing Andrew R. Findlay · Matthew Harms · Alan Pestronk · Conrad C. Weihl · Conrad C. Weihl
DUCHENNE MUSCULAR DYSTROPHY - GENETICS N. DiIorgi · E. Medone · G. Brigati · S. Notarnicola · C. Panicucci · Chiara Fiorillo · Marina Pedemonte · Carlo Minetti · M. Maghnie · C. Bruno · C. Bruno
Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats Claudia Cutellè · Emanuele Rastelli · Manuela Gibellini · Giulia Greco · Erica Frezza · Annalisa Botta · Chiara Terracciano · Roberto Massa · Roberto Massa
Cytoplasmic body myopathy revisited Stephanie M. Shrader · SeungWoo Jung · Thomas S. Denney · Bruce F. Smith · Bruce F. Smith
Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1 A. Berardo · R. Reisin · Giorgio A. Tasca · Bjarne Udd · Bjarne Udd
IGHMBP2 mutation associated with organ-specific autonomic dysfunction Junghoon Shin · Yun Jung Park · J. Lee · D. Kim · D. Kim
Characterization of Australian Labradoodle dystrophinopathy J. Martins · J. Oliveira · Ricardo Taipa · C. Garrido · M. A. M. Pires · M. Santos · M. Santos
MITOCHONDRIAL DISEASES (Posters) M. Loos · H. Aráoz · Fabiana Lubieniecki · A. Taratuto · R. Caraballo · L. Chertkoff · S. Monges · S. Monges
MYOFIBRILLAR AND DISTAL MYOPATHIES J. de Winter · J. Molenaar · M. van Willigenburg · Stefan Conijn · S. Lassche · Tom Irving · Kurtis A. Campbell · B.G.M. van Engelen · Nicol C. Voermans · C. Ottenheijm · C. Ottenheijm
CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES Narayanappa Gayathri · Parayil Sankaran Bindu · P. Govindaraj · C. Shwetha · K. Chetan · S. Deepha · N. Madhu · Arun B. Taly · Arun B. Taly
MITOCHONDRIAL DISEASES (Posters) M. Garibaldi · John Rendu · J. Brocard · Emmanuelle Lacène · Maud Beuvin · Guy Brochier · C. Labasse · A. Madelaine · Edoardo Malfatti · Jorge A. Bevilacqua · Fabiana Lubieniecki · Soledad Monges · A.L. Taratuto · Isabelle Marty · Norma B. Romero · Norma B. Romero
CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES R. Juntas Morales · Claude Cances · Pascal Cintas · Dimitri Renard · Guilhem Solé · C. Espil · François Rivier · U. Walther Louvier · Emmanuelle Uro-Coste · A. Perrin · N. Leboucq · Valérie Rigau · Marie-Christine Arné-Bes · Fanny Duval · B. Acket · D. Peyroulan · C. Theze · Henri Pegeot · Mireille Cossée · Mireille Cossée
MITOCHONDRIAL DISEASES (Posters) T. Solheim · Freja Fornander · R. Møgelvang · N. Poulsen · A. Andersen · A. Eisum · Morten Duno · H. Bundgaard · John Vissing · John Vissing
CONGENITAL MYOPATHIES: GENERAL AND RYR1 P. Van den Bergh · Françoise Piéret · John L. Woodard · Shahram Attarian · Aude-Marie Grapperon · Guillaume Nicolas · Marion Brisset · Julien Cassereau · Yusuf A. Rajabally · Vinciane Van Parijs · Donatienne Verougstraete · P. Jacquerye · Jean-Marc Raymackers · Céline Redant · Claure Michel · Emilien Delmont · Emilien Delmont
NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY L. Souza · P. Tavares · S. Passos · C. Iwabe-Marchese · T. Rosa · A. Nucci · Marcondes C. França · S. Dertkigil · S. Dertkigil
DUCHENNE MUSCULAR DYSTROPHY - GENETICS R. Al-dahhak · J. Conway · L. Bostan-Shirin · L. Bostan-Shirin
CMT AND NEUROGENIC DISEASE D. Ardicli · I. Zaharieva · A. Sarkozy · R. Phadke · C. Deshpande · I. Bodi · A. Siddiqui · J. U-King-Im · Heinz Jungbluth · Francesco Muntoni · Francesco Muntoni
DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS A. Ille · A. van Egmond-Fröhlich · S. Weiss · M. Gosk-Tomek · M. Foedinger · S. Peithner · G. Bernert · G. Bernert
CMT AND NEUROGENIC DISEASE S. Bacman · C. Pereira · U. Zekonyte · T. Arguello · S. Williams · J. Stewart · D. Jantz · Carlos T. Moraes · Carlos T. Moraes
MITOCHONDRIAL DISEASES (Posters) Vivienne Travlos · Jenny Downs · Andrew C. Wilson · Dana Hince · Shane Patman · Shane Patman
SMA THERAPIES II AND BIOMARKERS R. de Meel · K. Keene · Martijn R. Tannemaat · Jan J. Verschuuren · Jan J. Verschuuren
MITOCHONDRIAL DISEASES II (Oral) P. Mishra · P. Mishra
Mental wellbeing in non-ambulant youth with neuromuscular disorders: what makes the difference? D. Natera de Benito · A. Frongia · M. Alarcon · A. Borrás · J. Armas · J. Exposito · L. Carrera · L. Martorell · D. Moya · N. Padros · S. Roca · M. Vigo · J. Medina · J. Colomer · C. Ortez · A. Nascimento · A. Nascimento
CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA A. Filipe · E. Varone · S. Arbogast · A. Chernorudskiy · D. Pozzer · R. Villar · C. Dill · S. Dudhal · S. Fumagalli · M. De Simoni · Matteo Giovarelli · C. De Palma · P. Pinton · C. Giorgi · Emilio Clementi · S. Missiroli · S. Boncompagni · E. Zito · A. Ferreiro · A. Ferreiro
MITOCHONDRIAL DISEASES I (Oral) H.A. van Duyvenvoorde · D. van Heusden · Mariëtte J.V. Hoffer · H.B. Ginjaar · H.B. Ginjaar
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES J. Karafilidis · O. Mayer · B. Griffin · K. Higgins · K. Higgins
NEW INSIGHTS INTO CELLULAR FUNCTIONS D. Bachasson · J. Mosso · B. Marty · P. Carlier · J.Y. Hogrel · J.Y. Hogrel
DUCHENNE MUSCULAR DYSTROPHY - GENETICS Julia R. Dahlqvist · N. Poulsen · S. Oestergaard · Freja Fornander · A. Eisum · C. Thomsen · J. Vissing · J. Vissing
DUCHENNE MUSCULAR DYSTROPHY – CLINICAL E. O’Connor · I. Cordts · Andreas Roos · Hanns Lochmüller · Hanns Lochmüller
FSHD / OPMD / EDMD / DMI Sean C. Forbes · Rebecca J. Willcocks · William Triplett · H. Arora · William D. Rooney · Dah Jyuu Wang · Michael J. Daniels · Erika L. Finanger · R. Finkel · Gihan Tennekoon · H.L. Sweeney · Glenn A. Walter · Krista Vandenborne · Krista Vandenborne
FSHD / OPMD / EDMD / DMI Matthias Baumann · Christiane Gumpold · Wolfgang Mueller-Felber · Benedikt Schoser · Christine Haberler · Wolfgang Loescher · Kevin Rostasy · Michael B. Fischer · Julia Wanschitz · Julia Wanschitz
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study Jr. Hogrel · C. Chéraud · I. Ledoux · G. Ollivier · R. Ben Yaou · F. Leturcq · Anthony Behin · Tanya Stojkovic · Bruno Eymard · P. Laforêt · P. Laforêt
Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation Pedro J. Tomaselli · Pedro J. Tomaselli · Alejandro Horga · Alexander M. Rossor · Zane Jaunmuktane · Andrea Cortese · Julian Blake · Natalia Zárate-Lopez · Henry Houlden · Mary M. Reilly · Mary M. Reilly
222nd ENMC International Workshop: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016 Markus Schuelke · Michael Schwarz · Werner Stenzel · Hans H. Goebel · Hans H. Goebel
Mitophagy in three cases of immune-mediated necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies: ultrastructural and immunohistochemical studies Giulia Ricci · Sigrid Baldanzi · Fabrizio Seidita · Chiara Proietti · Francesca Carlini · Silvia Peviani · Giovanni Antonini · Andrea Vianello · Gabriele Siciliano · Olimpia Musumeci · Antonio Toscano · Sabrina Ravaglia · M. Moggio · Giacomo P. Comi · Elena Pegoraro · Massimiliano Filosto · Giovanni Marrosu · Lorenzo Maggi · Rocco Liguori · Roberto Massa · G. Di Iorio · Serenella Servidei · C. Angelini · T. Mongini · T. Mongini
National registry of patients with Fukuyama congenital muscular dystrophy in Japan Annegret Quade · Joachim Weis · Ingo Kurth · Roman Rolke · Marion Bienert · Simone Schrading · Dorothea Rohrmann · Zafer Yüksel · Martin Häusler · Martin Häusler
Breathe Duchenne: what natural history studies tell us about the progression of pulmonary morbidity in DMD Shuko Joseph · Cunyi Wang · Marina DiMarco · Iain Horrocks · Ishaq Abu-Arafeh · Alex Baxter · Nuno Cordeiro · Linda McLellan · Kenneth McWilliam · Karen Naismith · Elma Stephen · S Faisal Ahmed · Sze Choong Wong · Sze Choong Wong
METABOLIC MYOPATHIES II Katsuhisa Ogata · M. Kosuga · E. Takeshita · Tsuyoshi Matsumura · K. Ishigaki · S. Ozasa · H. Arahata · K. Sugie · Toshiaki Takahashi · Satoshi Kuru · M. Kobayashi · H. Takada · A. Hattori · M. Takahashi · N. Tanaka · T. Kimura · M. Funato · T. Okuyama · Hirofumi Komaki · Hirofumi Komaki
A mobile app for patients with Pompe disease and its possible clinical applications Gerta Vrbová · Urszula Sławińska · Urszula Sławińska
Normalization of connexin 43 protein levels prevents cellular and functional signs of dystrophic cardiomyopathy in mice Libby Wood · Guillaume Bassez · Baziel G.M. van Engelen · Hanns Lochmüller · Benedikt Schoser · Benedikt Schoser
Giovanni Nigro 1931–2017 Elizabeth M. van der Pijl · Maaike van Putten · Erik H. Niks · Jan J. Verschuuren · Annemieke Aartsma-Rus · Jaap J. Plomp · Jaap J. Plomp
Critical period of neuromuscular development: Importance for a new treatment of SMA Antonio Gallo · Alon Abraham · Hans D. Katzberg · Suganthini Ilaalagan · Vera Bril · Ari Breiner · Ari Breiner
222 Nd ENMC international workshop: myotonic dystrophy, developing a european consortium for care and therapy, 1-2 july 2016, naarden, The Netherlands Kevin J. Felice · Charles H. Whitaker · Qian Wu · Qian Wu
Low dystrophin levels are insufficient to normalize the neuromuscular synaptic abnormalities of mdx mice Yang Xu · Qinglin Kang · Zhen-Lin Zhang · Zhen-Lin Zhang
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers Mauro Scarpelli · Lidia Carreño-Gago · Anna Russignan · Noemi de Luna · Clara Carnicer-Cáceres · Alessandra Ariatti Lorenzo · Verriello Grazia Devigili · Paola Tonin · Elena García-Arumí · Tomàs Pinós · Tomàs Pinós
A MYH3 mutation was identified for the first time in a chinese family with sheldon-hall syndrome (DA2B) F.G.I. Jennekens · Marianne de Visser · Marianne de Visser
Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants M. Keßler · A. Kieltsch · E. Kayvanpour · H.A. Katus · Benedikt Schoser · Joachim Schessl · S. Just · Wolfgang Rottbauer · Wolfgang Rottbauer
Novel mt-tRNA mutations in mitochondrial myopathies Annarita Ghosh Andersen · Freja Fornander · Henrik Daa Schrøder · Thomas Krag · Volker Straub · Morten Duno · John Vissing · John Vissing
Obituary – Professor Jaap Bethlem (1924–2017) K. Hor · May Ling Mah · Pace Johnston · Timothy P. Cripe · L. Cripe · L. Cripe
A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations P. Carbonell-Corvillo · E. Tristán-Clavijo · Macarena Cabrera-Serrano · Macarena Cabrera-Serrano · E. Servián-Morilla · G. García-Martín · L. Villarreal-Pérez · E. Rivas-Infante · E. Area-Gómez · M.I. Chamorro-Muñoz · A. Gil-Gálvez · A. Miranda-Vizuete · A. Martinez-Mir · Nigel G. Laing · Carmen Paradas · Carmen Paradas
BAG3 myopathy is not always associated with cardiomyopathy M.J. Damen · A. F. G. van der Meer · Nicol C. Voermans · Alide A. Tieleman · Alide A. Tieleman
Advances in the diagnosis and management of cardiomyopathy in Duchenne muscular dystrophy Florian Barthelemy · Nicolas Wein · Nicolas Wein · Nicolas Wein
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain Sophelia Chan · Nens van Alfen · Inger Johanne Thuestad · Janice Ip · Angel On-Kei Chan · Christopher Chun Yu Mak · Brian Hon-Yin Chung · Aad Verrips · Erik-Jan Kamsteeg · Erik-Jan Kamsteeg
Graves disease and celiac disease in a patient with myotonic dystrophy type 2 L. Gonzalez-Quereda · Eduard Gallardo · Ana Töpf · Alicia Alonso-Jimenez · Volker Straub · M. Rodriguez · Cinta Lleixà · Isabel Illa · P. Gallano · Jordi Díaz-Manera · Jordi Díaz-Manera
Personalized gene and cell therapy for Duchenne Muscular Dystrophy Christopher W. Ward · Frederick Sachs · Ernest D. Bush · Thomas M. Suchyna · Thomas M. Suchyna
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality Simona Fecarotta · V. Gragnaniello · R. Della Casa · Alfonso Romano · E. Raiano · A. Torella · M. Savarese · V. Nigro · Pietro Strisciuglio · Generoso Andria · Giancarlo Parenti · Giancarlo Parenti
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement Frédéric Lofaso · Hélène Prigent · Djillali Annane · David Orlikowski · Karim Wahbi · P. Laforêt · Bruno Eymard · Tanya Stojkovic · Anthony Behin · Ghilas Boussaïd · Ghilas Boussaïd
GsMTx4-D provides protection to the D2.mdx mouse J. García-García · M.A. Fernández-García · P. Blanco-Arias · M.I. Díaz-Maroto-Cicuendez · F. Salmerón-Martínez · V.M. Hidalgo-Olivares · M. Olivé · M. Olivé
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report Miguel Oliveira Santos · Teresinha Evangelista · Isabel Conceição · Isabel Conceição
Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats Maria Carmela Pera · Marco Luigetti · Serena Sivo · Leonardo Lapenta · Giuseppe Granata · Laura Antonaci · Giorgia Coratti · Nicola Forcina · Marika Pane · Eugenio Mercuri · Eugenio Mercuri
Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation B. Schoser · B. Schoser
Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy K. Ishiguro · T. Nakayama · Masaru Yoshioka · T. Murakami · S. Kajino · M. Shichiji · T. Sato · Naomi Hino-Fukuyo · Satoshi Kuru · Makiko Osawa · Satoru Nagata · Mariko Okubo · Nobuyuki Murakami · Yukiko K. Hayashi · Ichizo Nishino · K. Ishigaki · K. Ishigaki
Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy K. Ishigaki · Chikoto Ihara · Harumasa Nakamura · Madoka Mori-Yoshimura · Kazushi Maruo · Mariko Taniguchi-Ikeda · En Kimura · T. Murakami · T. Sato · Tatsushi Toda · Hisanobu Kaiya · M. Osawa · M. Osawa
Self-diagnosis of a triple trouble Libby Wood · Guillaume Bassez · B.G.M. van Engelen · Arend Heerschap · Hanns Lochmüller · Benedikt Schoser · Benedikt Schoser
Characteristic findings of skeletal muscle MRI in caveolinopathies Giuseppe Fiorentino · Antonio M. Esquinas · Antonio M. Esquinas
DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS Leonela N. Luce · Micaela Carcione · Chiara Mazzanti · Marcela Ferrer · Irene Szijan · Florencia Giliberto · Florencia Giliberto
Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis Corrado Angelini · R. Marozzo · V. Pegoraro · V. Pegoraro
Role of neuronal nitric oxide synthase (nNOS) in Duchenne and Becker muscular dystrophies – Still a possible treatment modality? C. Iwabe-Marchese · N. Morini · c. Sanches · T. Rosa · T. Rosa
Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne/Becker muscular dystrophies cohort Susan D. Apkon · J. Weaver · N. Natarajan · Dennis W. W. Shaw · K. Koo · G. Shivaram · E. Monroe · E. Monroe
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES M. Goddard · B. Drayton · F. Piétri-Rouxel · F. Relaix · F. Relaix
MITOCHONDRIAL DISEASES (Posters) M. Garcia Erro · E. Cavassa · J. Muntadas · M. Pauni · G. Vazquez · G. Vazquez
LIMB-GIRDLE MUSCULAR DYSTROPHY I M. Martínez-Jalile · A. Lozano-Arango · C. Diemer · B. Suárez · K. Alvarez · C. Castiglioni · C. Castiglioni
DMD TREATMENT: ANIMAL MODELS T. Johnston · K. Hor · May Ling Mah · L. Cripe · L. Cripe
CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA H. Gonorazky · S. Naumenko · D. Kao · P. Mashouri · A. Ramani · Katherine D. Mathews · M. Tarnopolsky · S. Moore · M. Brudno · James J. Dowling · James J. Dowling
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES C. Mix · E. Naughton · S. Forte · S. Forte
DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS M. Oliveira Santos · C. Falcão de Campos · C. Garrido · Isabel Conceição · F. Palavra · Luís Negrão · J. Pedro Vieira · Cléverton de Oliveira Mendonça · Teresa Coelho · Isabel Fineza · Mauricio Lang dos Santos · Teresa Moreno · Teresa Moreno
NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY W. Stuij · Merel Jansen · I. de Groot · I. de Groot
DMD CLINICAL THERAPIES II E. Sneszhko · P. Baudin · P. Carlier · P. Carlier
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES H. Kletzl · C. Czech · Y. Cleary · S. Sturm · A. Günther · Giovanni Baranello · Eugenio Mercuri · Laurent Servais · J. Day · N. Deconinck · A. Klein · B. Darras · R. Masson · Janbernd Kirschner · Nathalie Goemans · Maria Carmela Pera · Claudia A. Chiriboga · D. Fischer · K. Gorni · O. Khwaja · O. Khwaja
DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS C. Thomsen · Y. Sunnerhagen · A. Oldfors · A. Oldfors
REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS P. Karachunski · J. Dalton · R. Paulson · K. Mitchell · Z. Mugugunyeki · R. Machaka · J. Pazorora · J. Pazorora
SMA THERAPIES II AND BIOMARKERS Sean C. Forbes · A. Batra · Celine Baligand · Krista Vandenborne · Glenn A. Walter · Glenn A. Walter
MITOCHONDRIAL DISEASES (Posters) K. Aragon-Gawinska · A. Seferian · L. Vanden Brande · A. Daron · A. Ulinici · N. Deconinck · M. Annoussamy · C. Vuillerot · C. Cances · J. Ropars · M. Chouchane · Z. Balintova · S. Modrzejewska · I. Cuppen · I. Hughes · M. Illingworth · C. Marini-Bettolo · K. White · M. Scoto · T. Gidaro · L. Servais · L. Servais
DUCHENNE MUSCULAR DYSTROPHY – CLINICAL Francesco Muntoni · G. Layton · I. Bhattacharya · K. Vandenborne · C. Faelan · A. Heatherington · D. Roblin · Jon Tinsley · Kay E. Davies · Kay E. Davies
DMD TREATMENT: ANIMAL MODELS Akihiko Ishiyama · S. Kusabiraki · M. Inoue · Yasushi Oya · H. Miyahara · Eri Takeshita · Y. Motohashi · Hirofumi Komaki · Masayuki Sasaki · Ichizo Nishino · Ichizo Nishino
SMA THERAPIES I Edoardo Malfatti · R. Avila-Polo · Xavière Lornage · I. Nelson · Juliette Nectoux · Johann Böhm · Carola Hedberg-Oldfors · Bruno Eymard · Soledad Monges · Fabiana Lubieniecki · Guy Brochier · A. Madelaine · C. Labasse · A.L. Taratuto · Bjarne Udd · F. Leturcq · Gisèle Bonne · Anders Oldfors · J. Laporte · Norma B. Romero · Norma B. Romero
NEW THERAPEUTIC APPROACHES AND THEIR READOUT C. Gersbach · C. Nelson · J. Robinson-Hamm · J. Kwon · V. Gough · M. Gemberling · M. Gemberling
FSHD / OPMD / EDMD / DMI Eduardo de Paula Estephan · Antonio Alberto Zambon · Paulo Eurípedes Marchiori · André Macedo Serafim da Silva · Vitor M. Caldas · Cristiane Araújo Martins Moreno · Umbertina Conti Reed · Rita Horvath · Ana Töpf · Hanns Lochmüller · Hanns Lochmüller · Edmar Zanoteli · Edmar Zanoteli
CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES C. Bleyenheuft · Nathalie Goemans · S. Wanyama · P. Van Damme · J. De Bleecker · R. Van Coster · P. De Jonghe · D. Beysen · P. Van den Bergh · Stéphanie Paquay · L. Servais · A. Maertens de Noordhout · J. Haan · L. De Meirleir · G. Remiche · Nicolas Deconinck · C. Arnould · C. Arnould
NEW THERAPEUTIC APPROACHES AND THEIR READOUT Y. Zhao · C. Yan · C. Yan
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil Markus A. Rüegg · P. Castets · Shuo Lin · H. Brenner · D. Ham · M. Rich · M. Rich
REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS J. Bullivant · L. Murphy · K. Napier · L. Render · A. Hunter · M. Spring · A. Lennox · H. Lochmüller · M. Bellgard · C. Marini-Bettolo · C. Marini-Bettolo
MITOCHONDRIAL DISEASES (Posters) M. Schülke · Werner Stenzel · M. Schwarz · Hans H. Goebel · Hans H. Goebel
NEUROMUSCULAR JUNCTION DEFECTS R. Mendonça · A. Silva · O. Velasco · D. Cardeal · U. Conti-reed · E. Zanoteli · E. Zanoteli
CONGENITAL MYOPATHIES (CNM) S.Q. Harper · S.Q. Harper
CONGENITAL MYOPATHIES: GENERAL AND RYR1 Johanna Palmio · M. Sainio · S. Välipakka · Manu Jokela · Mari Auranen · Anders Paetau · Sanna Huovinen · H. Lapatto · E. Ylikallio · B. Udd · H. Tyynismaa · H. Tyynismaa
SMA THERAPIES I D. Nelson · A. Lindsay · Dawn A. Lowe · James M. Ervasti · James M. Ervasti
NEW THERAPEUTIC APPROACHES Esther E.D.H. Abel · Edith H. C. Cup · Anke Lanser · Wouter K.G. Leclercq · Joost Raaphorst · George W. Padberg · Ton Satink · Nicol C. Voermans · Nicol C. Voermans
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES Jordi Díaz-Manera · Roberto Fernández-Torrón · M. James · A. Mayhew · M. Jacobs · Simone Spuler · John W. Day · Kristi J. Jones · Diana Bharucha-Goebel · Emmanuelle Salort-Campana · Alan Pestronk · Maggie C. Walter · Carmen Paradas · Tanya Stojkovic · Madoka Mori-Yoshimura · E. Bravver · Elena Pegoraro · K. Bushby · Volker Straub · Volker Straub
FSHD / OPMD / EDMD / DMI E. Schlapakow · V. Peeva · M. Jeub · B. Wabbels · Gábor Zsurka · Wolfram S. Kunz · Cornelia Kornblum · Cornelia Kornblum
SMA THERAPIES II AND BIOMARKERS Marc-Olivier Deguise · Ariane Beauvais · A. Tiernay · B. Paul · Emily McFall · Y. De Repentigny · Rashmi Kothary · Rashmi Kothary
NEW THERAPEUTIC APPROACHES AND THEIR READOUT A. Robertson · L. Bindoff · J.-P. Laurent · Katherine D. Mathews · A. Rutkowski · H. Stevenson · John Vissing · Maggie C. Walter · L. Woods · Volker Straub · Volker Straub
LGMD AUTOSOMAL RESSESSIVE AND DOMINANT N. Khan · L. Han · B. Kinane · H. Gordish-Dressman · Linda Lowes · C. McDonald · C. McDonald
DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY Cyril Gitiaux · S. Gobin-Limballe · Isabelle Desguerre · Christine Barnerias · P. de Lonlay · F. Authier · F. Authier
SMA THERAPIES I Corrado Angelini · R. Marozzo · V. Pegoraro · V. Pegoraro
DMD CLINICAL THERAPIES I Massimo Zeviani · A. Dogan · M. Sanchez · R. Cerutti · C. Beninca · C. Viscomi · C. Viscomi
METABOLIC MYOPATHIES I E. Mercuri · E. Mercuri
METABOLIC MYOPATHIES I Leonela N. Luce · M. Carcione · C. Mazzanti · L. Mesa · A. Dubrovsky · Florencia Giliberto · Florencia Giliberto
MITOCHONDRIAL DISEASES I (Oral) M. De Antonio · Céline Dogan · D. Hamroun · A. Geille · Bruno Eymard · Guillaume Bassez · Guillaume Bassez
NEW THERAPEUTIC APPROACHES L. Mayorga · B. Salassa · C. Garcia Samartino · M. Loos · H. Eiroa · P. Romano · M. Roque · M. Roque
DUCHENNE MUSCULAR DYSTROPHY - GENETICS A. Ille · W.M. Schmidt · M. Gosk-Tomek · S. Weiss · M. Freilinger · Reginald E. Bittner · G. Bernert · G. Bernert
FSHD / OPMD / EDMD / DMI R. El-Khoury · R. Sawaya · M. Lamaa · M. Ahdab-Barmada · M. Ahdab-Barmada
NEW INSIGHTS INTO CELLULAR FUNCTIONS Kanneboyina Nagaraju · Maria Candida Vila · James S. Novak · Jessica F. Boehler · Marshall W. Hogarth · Aiping Zhang · T. Kinder · D. Mazala · M. Benny Klimek · Alyson A. Fiorillo · J. van den Anker · Yetrib Hathout · Eric P. Hoffman · Terence A. Partridge · Terence A. Partridge
DUCHENNE MUSCULAR DYSTROPHY - GENETICS J. Statland · E. Bravver · C. Karam · L. Elman · N. Johnson · N. Joyce · J. Kissel · P. Shieh · L. Korngut · C. Weihl · R. Tawil · A. Amato · C. Campbell · A. Genge · G. Manousakis · A. Leneus · B. Miller · M. Sherman · C. Glasser · K. Attie · K. Attie
LGMD AUTOSOMAL RESSESSIVE AND DOMINANT S. Al Zaidy · E. Camino · N. Miller · K. Lehman · L. Lowes · L. Alfano · M. Iammarino · J. Alexander · L. Cripe · K. Hor · M. Mah · J. Mendell · J. Mendell
FSHD / OPMD / EDMD / DMI S. Passos · P. Tavares · T. Rezende · L. Souza · T. Rosa · C. Iwabe-Marchese · A. Nucci · Marcondes C. França · Marcondes C. França
DMD TREATMENT: ANIMAL MODELS J.Y. Hogrel · M. Annoussamy · A. Chabanon · A. Daron · Yann Péréon · Claude Cances · C. Vuillerot · Nathalie Goemans · Jean-Marie Cuisset · Vincent Laugel · Ulrike Schara · E. Gargaun · T. Gidaro · A. Seferian · S. Turk · R. Hermosilla · Emmanuel Fournier · Pierre-Yves Baudin · Pierre G. Carlier · L. Servais · L. Servais
DUCHENNE MUSCULAR DYSTROPHY - GENETICS D. Beeson · D. Beeson
NEW INSIGHTS INTO CELLULAR FUNCTIONS Oscar H. Mayer · Andrea Aliverti · Thomas Meier · Thomas Meier
MYOFIBRILLAR AND DISTAL MYOPATHIES Yi Lun · Su Xu · Rebecca Soska · Anju Nair · Michelle Frascella · Anadina Garcia · A. Ponery · Jessie Feng · C. Della Valle · Russell Gotschall · Hung Do · Kenneth J. Valenzano · Richie Khanna · Richie Khanna
I.2New genes and better treatment for congenital myasthenic syndromes K. Madsen · P. Laforêt · A. Buch · M. Stemmerik · S. Hatem · D. Raaschou-Pedersen · N. Poulsen · M. Atencio · C. Ottolenghi · C. Jardel · R. Quinlivan · F. Mochel · John Vissing · John Vissing
CMT AND NEUROGENIC DISEASE J. Poyatos · C. Gomis · N. Muelas · P. Marti · Juan J. Vílchez · Juan J. Vílchez
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES D. Saade · M. Lee · D. Bharucha-Goebel · S. Donkervoort · S. Neuhaus · K. Alter · C. Zampieri · C. Stanley · J. Matsubara · A. Nickolls · A. Micheil Innes · Jean K. Mah · C. Grosmann · A. Nascimento · J. Colomer · F. Munell · G. Haliloglu · A.R. Foley · A. Chesler · Carsten G. Bönnemann · Carsten G. Bönnemann
METABOLIC MYOPATHIES I I. Le Gall · O. Lucas · S. Roquevière · V. Mariot · J. Dumonceaux · G. Ouandaogo · G. Trane study · F. Ratti · A. Mejat · A. Durieux · J. Gonzales De Aguilar · C. Martinat · S. Knoblach · C. Raoul · William Duddy · P. Pradat · Stephanie Duguez · Stephanie Duguez
DUCHENNE MUSCULAR DYSTROPHY - GENETICS L. Gonzalez-Quereda · A. Pellisé · N. Vidal · M. Rodriguez · P. Gallano · Montse Olivé · Montse Olivé
CONGENITAL MYOPATHIES: GENERAL AND RYR1 L. Belter · C. Jones · A. Paradis · M. Jhaveri · Sandra P. Reyna · K. Hobby · J. Jarecki · J. Jarecki
NEW INSIGHTS INTO CELLULAR FUNCTIONS J. Lee · J. Shin · J. Shin
CONGENITAL MYOPATHIES: GENERAL AND RYR1 A. Boulanger Piette · Laetitia Marcadet · Dounia Hamoudi · Sabrina Bossé · Anteneh Argaw · Jérôme Frenette · Jérôme Frenette
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES Thomas O. Crawford · C. Sumner · R. Finkel · D. C. De Vivo · Maryam Oskoui · Eduardo F. Tizzano · G. Zhao · M. Petrillo · C. Stebbins · Wildon Farwell · Wildon Farwell
CMT AND NEUROGENIC DISEASE C. Giesige · L. Wallace · K. Heller · J. Eidahl · A. Fowler · N. Pyne · N. Saad · M. Alkharsan · A. Rashnonejad · G. Chermahini · J. Domire · D. Mukweyi · Sara E Garwick-Coppens · S. Guckes · K. McLaughlin · L. Rodino-Klapac · S. Harper · S. Harper
METABOLIC MYOPATHIES II M. Oliveira Santos · Isabel Conceição · Isabel Conceição
Muscle biopsy technical safety and quality using a self-contained, vacuum-assisted biopsy technique Josef Finsterer · Sinda Zarrouk-Mahjoub · Sinda Zarrouk-Mahjoub
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2) Peter Briggs · Peter Briggs
Congenital Muscular Dystrophies Susana Quijano-Roy · Daniela Avila-Smirnow · Robert-Yves Carlier · T. Willis · Volker Straub · Volker Straub
METABOLIC MYOPATHIES I R. Kulshrestha · Natalie Forrester · Thalia Antoniadi · T. Willis · Sethil Kumar Sethuraman · Martin Samuels · Martin Samuels
Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients Miguel Oliveira Santos · Pedro Ninitas · Isabel Conceição · Isabel Conceição
Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis M.V. Santos · Simão Cruz · João Peres · L. O. Santos · Purificação Tavares · Jorge Pinto Basto · Vasco Salgado · Ana Valverde · Ana Valverde
Inclusion body myositis and human immunodeficiency virus type 1: A new case report and literature review Raphaël Boursereau · Michel Abou Samra · Sophie Lecompte · Laurence Noel · Sonia Brichard · Sonia Brichard
234th ENMC International Workshop: Chaperone dysfunction in muscle disease, December 8-10th 2017, Naarden, Netherlands Hacer Durmus · Xin-Ming Shen · Piraye Serdaroglu-Oflazer · Bülent Kara · Yesim Parman-Gulsen · Coşkun Özdemir · Joan M. Brengman · Feza Deymeer · Andrew G. Engel · Andrew G. Engel
Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients Giuseppe Fiorentino · Antonio M. Esquinas · Antonio M. Esquinas
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation M. Desikan · R. Scalco · R. Scalco · Andreea Manole · A Gardiner · A. H. V. Schapira · Robin H. Lachmann · Henry Houlden · Janice L. Holton · R. Phadke · R. Quinlivan · R. Quinlivan
METABOLIC MYOPATHIES II Julien Esnault · Besma Missaoui · Samy Bendaya · Michèle Mane · Bruno Eymard · P. Laforêt · Tanya Stojkovic · Anthony Behin · P. Thoumie · P. Thoumie
Fractures And Bone Health Monitoring In Boys With Duchenne Muscular Dystrophy Managed Within The Scottish Muscle Network Narayanappa Gayathri · B. Debashree · K. Manish Kumar · T. S. Keshava Prasad · N. Archana · C. Rita · Atchayaram Nalini · Parayil Sankaran Bindu · M.M. Srinivas Bharath · M.M. Srinivas Bharath
METABOLIC MYOPATHIES II Conrad C. Weihl · Bjarne Udd · Michael G. Hanna · Michael G. Hanna
Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated spanish patients and a compilation of 2,834 reported cases Shiro Matsubara · Kota Bokuda · Yuri Asano · Ryo Morishima · Keizo Sugaya · Kazuhito Miyamoto · Reiji Koide · Takashi Komori · Shigeaki Suzuki · Ichizo Nishino · Ichizo Nishino
Management of pregnancy and anaesthetic use in skeletal musclechannelopathy patients A. Fischmann · C. Trentin · M. Gloor · R. Andriantsimiavona · D. Fischer · M. Boesen · O. Kubassova · M. Hinton · M. Hinton
Characterisation of the heat shock response in primary and ES-cell derived spinal motor neurons and astrocytes exposed to cellular stress conditions modelling ALS M. Cao · Cinzia Bertolin · S. Tripodi · Luca Bello · Gianni Sorarù · Elena Pegoraro · Elena Pegoraro
RBCK1 mid-domain mutations with a phenotype spanning the entire spectrum of the condition: A rare polyglucosan storage disorder causing multisystem autoinflammation, immunodeficiency, cardiac and skeletal myopathy J.T. Nguyen · E.P. Su · S. Lyman · E. Manning · K. Cummings · A. Wu · M. Sasaki · A. Dalal · C. Ching · T. Shetty · T. Shetty
Impact of mitochondrial mutations on the metabolite-dependent epigenetic profile of human induced pluripotent stem cell derived myotubes B. Clarke · B. Kalmar · L. Greensmith · L. Greensmith
HYPOKALAEMIC PERIODIC PARALYSIS DUE TO A NOVEL ATP1A2 MUTATION: A NEW PERIODIC PARALYSIS GENE? R. Phadke · R. Scalco · A. Oldfors · Elaine Murphy · Elaine Murphy
Quantitative magnetic resonance imaging of the skeletal muscle in a multi-center dysferlinopathy study: 1-year follow-up E. Matthews · E. Zanoteli · R.S. Scalco · B. O’Callaghan · R. Sud · S. McCall · M.G. Hanna · M. Sampedro Castenada · R. Männikkö · H. Poulson · H. Poulson
A comparative phenotype study of the key forms of Periodic Paralysis in the UK B. O’Callaghan · M. Madej · Michael G. Hanna · J.E. Morgan · H. Houlden · H. Houlden
Quantification of intramuscular fat accumulation in CMT1A using MRI: an international longitudinal study R. Scalco · Andreea Manole · Henry Houlden · Elaine Murphy · R. Quinlivan · R. Quinlivan
Manipulating mtDNA heteroplasmy with designer zinc-finger nuclease technology D.L. Raja Rayan · M.G. Hanna · M.G. Hanna
Exercise related kidney failure due to SLC2A9 homozygous mutation Fiona E. Smith · N. Azzabou · H. Reyngoudt · I. Wilson · Roberto Fernández-Torrón · Pierre G. Carlier · Andrew M. Blamire · K. Bushby · Volker Straub · Volker Straub
Chromosome X inactivation pattern in FSHD female patients J. Kim · B. Lana · D. Ryan · E. Konstantinidis · S. Louzada · B. Fu · F. Yang · Derek L. Stemple · P. Liu · Francesco Muntoni · Yung-Yao Lin · Yung-Yao Lin
Towards objective and reproducible measures of thigh muscle fat fraction in patients with Duchenne Muscular Dystrophy M. Minczuk · M. Minczuk
Incidence and risk factors for neuropathy following primary total knee arthroplasty Anri Human · Anri Human · Lieselotte Corten · Jennifer Jelsma · Brenda Morrow · Brenda Morrow
P.7 - The relation of postural alignment and energy expenditure in boys with Duchenne muscular dystrophy C. Macquart · M. Chatzifrangkeskou · Michael Gotthardt · Gisèle Bonne · Antoine Muchir · Antoine Muchir
Inspiratory muscle training for children and adolescents with neuromuscular diseases: A systematic review B.D. Gonzalez · S. Torelli · J.E. Morgan · J.E. Morgan
Generation of a mouse model of FSHD to reveal the DUX4 expression profile and dynamics S. Holmes · A. Male · G.M. Ramdharry · R. Quinlivan · E. Bugiardini · O.V. Poole · N. James · M.G. Hanna · M.G. Hanna
Next generation sequencing in inherited myopathies M. Sivaramakrishnan · K.D. McCarthy · S. Huber · S. Campagne · S. Meier · A. Augustin · T. Heckel · H. Meistermann · M. Hug · P. Birrer · A. Moursy · S. Khawaja · R. Schmucki · N. Berntenis · N. Giroud · S. Golling · M. Tzouros · B. Banfai · G. Duran-Pacheco · J. Lamerz · Y.H. Liu · T. Luebbers · Hasane Ratni · A. Clery · M. Ebeling · S. Paushkin · A.R. Krainer · F. Allain · Friedrich Metzger · Friedrich Metzger
Using stem cells and light to restore function to paralysed muscles L.V. Schottlaender · S. Morgan · M. Shoai · E. O’Connor · J. Hardy · Henry Houlden · R. Reisin · A. Pittman · A. Pittman
The role of the TWEAK/Fn14 pathway in muscle pathology in SMA E. Bugiardini · D. Lynch · A. Pittman · L. Pihlstrom · Jasper M. Morrow · Chris Turner · M. Parton · Janice L. Holton · Henry Houlden · E. Matthews · M.G. Hanna · M.G. Hanna
Expression profiling and bioinformatics analysis of dysregulated microRNAs (miRNAs) in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) B. Bryson · L. Greensmith · L. Greensmith
Service evaluation exploring the incidence of vestibular and balance dysfunction in people with mitochondrial disease Katharina E. Meijboom · Gareth Hazell · Emily McFall · M.-O. Deguise · D. Anthony · L.C. Burkly · Rashmi Kothary · Matthew J.A. Wood · Melissa Bowerman · Melissa Bowerman
In vitro models of Charcot-Marie-Tooth disease for investigating disease pathomechanisms M. Levene · B.E. Bax · B.E. Bax
Understanding how ionizing radiation enhances satellite cell engraftment in mdxnu/nu mouse skeletal muscle V. Sarajarvi · Bernadett Kalmar · Mary M. Reilly · Linda Greensmith · Linda Greensmith
CRISPR-mediated genome editing in human induced pluripotent stem cells for modelling FKRP-deficient dystroglycanopathies Maryna Panamarova · Alexandra Tassin · Louise A. Moyle · Alexandra Belayew · Peter S. Zammit · Peter S. Zammit
Comprehensive genome analysis of Japanese patients with myofibrillar myopathy M. Rice · M. Yang · Paul S. Horn · J. Bange · Brenda Wong · Brenda Wong
P.199 - Anti-mitochondrial antibodies are not a hallmark for severity in inflammatory myopathies S. Bozgeyik · I. Alemdaroglu · A. Karaduman · Haluk Topaloglu · O. Yılmaz · O. Yılmaz
Cataract development associated with long term glucocorticoid therapy in DMD patients T. Gidaro · A. Moraux · M. Grelet · E. Gasnier · M. Villeret · M. Annoussamy · J. Vissing · S. Attarian · T. Mozaffar · S. Iyadurai · K. Wagner · G. Walker · A. Richiardi · S. Shukla · D. Vissière · L. Servais · L. Servais
Clinical characterisation of a large international congenital titinopathy cohort D.L. Raja Rayan · M.G. Hanna · M.G. Hanna
ActiMyo home monitoring in adult patients with limb girdle muscular dystrophy type 2B and facioscapulohumeral muscular dystrophy in study ATYR 1940-C-004 D. Willis · Y. Easthope-Mowatt · C. Bassie · M. McFarlene · R. Kulshresthra · T. Willis · T. Willis
P.141 - Abnormal trafficking of connexin 43: A key element in the development of LMNA cardiomyopathy L. Belter · J. Jarecki · K. Hobby · M. Teynor · M. Teynor
Lung function in ataluren-treated, non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy from a long-term extension trial versus untreated patients from a natural history study Jasper M. Morrow · M.R.B. Evans · T. Grider · C.J.D. Sinclair · D. Thedens · S. Shah · M.G. Hanna · Tarek A. Yousry · John S. Thornton · P. Nopoulos · Michael E. Shy · Mary M. Reilly · Mary M. Reilly
Salbutamol counteracts long-term adverse eff ects of pyridostigmine onstrength and neuromuscular junction structure in myasthenic mice R.I.C. Glasgow · K. Thompson · Langping He · Charlotte L. Alston · I.A. Barbosa · C. Deshpande · M.A. Simpson · A. Neu · U. Löbel · Holger Prokisch · Tobias B. Haack · M. Hempel · Robert McFarland · Robert W. Taylor · Robert W. Taylor
Unravelling the role of androgen receptor splice variants in the mechanisms of pathogenesis of spinal and bulbar muscular atrophy X. Luo · J. McIntosh · P. Trifillis · A. Gill · T. Ong · P. Riebling · M. Souza · R. Spiegel · S.W. Peltz · Francesco Muntoni · Francesco Muntoni
P.428 - Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3 N. Patel · S. Sathe · D. Dietze · C. Viereck · J. Barth · Sheela Sitaraman · Sheela Sitaraman
Family impact and Health-Related Quality of Life (HRQoL) of parents and individuals with SMA Akihiko Ishiyama · En Kimura · Harumasa Nakamura · Hirofumi Komaki · Masayuki Sasaki · Ichizo Nishino · Ichizo Nishino
Identification of serum protein biomarkers for utrophin based DMD therapy Francesco Ricci · R. Scalco · T. Mongini · G.B. Ferrero · A. Manole · Enrico Bertini · M. Desikan · Isabella Moroni · M. Di Rocco · Heinz Jungbluth · R. Quinlivan · Henry Houlden · Henry Houlden
TPK1 mutations: unmasking a potentially treatable cause of Leigh-like syndrome J. Bilsland · M. Bictash · A. Nitzsche · L. Cao · E. Stevens · A. McDonnell · Z. Ali · P. Whiting · P. Whiting
P.102 - Registry of congenital neuromuscular disorders in Japan: establishment and implementation I. Barthélémy · O. Piperno · X. Cauchois · I. Punzón · S. Blot · S. Blot
P.369 - Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3 year-old child J.Y. Hogrel · M. Annoussamy · A. Chabanon · A. Daron · Yann Péréon · Claude Cances · Carole Vuillerot · Nathalie Goemans · Jean-Marie Cuisset · Vincent Laugel · Ulrike Schara · E. Gargaun · T. Gidaro · A. Seferian · S. Turk · R. Hermosilla · Emmanuel Fournier · Pierre-Yves Baudin · Pierre G. Carlier · L. Servais · L. Servais
P.307 - Quantitative muscle ultrasound in two canine models of human myopathies E. Lagrue · Céline Dogan · M. De Antonio · Guillaume Bassez · D. Hamroun · Romain K. Gherardi · Romain K. Gherardi
P.266 - A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management H. Gonorazky · S. Naumenko · K. Ohri · A. Ramani · M. Brudno · J. Dowling · J. Dowling
Genome editing to correct duplications in the dystrophin gene M. Guglieri · Paula R. Clemens · Avital Cnaan · J. Damsker · Heather Gordish-Dressman · Lauren P. Morgenroth · R. Davis · Kanneboyina Nagaraju · Yetrib Hathout · D. Athanasiou · E. Vroom · K. Bushby · Eric P. Hoffman · Eric P. Hoffman
P.225 - Living with late-onset Pompe disease: the patient and clinician point of view Teresinha Evangelista · R. Leary · M. Hails · Hanns Lochmüller · K. Bushby · K. Bushby
Utilizing transcriptome sequencing to identify causes of neuromuscular disease Ha-Young Shin · Haneul Jeong · H. Kim · J. Lee · Yuri Choi · Yuri Choi
P.485 - European reference network for rare neuromuscular diseases: EURO-NMD T. Nakayama · Akihiko Ishiyama · T. Murakami · En Kimura · Satoshi Kuru · Satoshi Kuru
Chronic progressive myopathy in a young patient with hyperkalemic periodic paralysis T.L.E. van Westering · H. Johansson · Anna M.L. Coenen-Stass · S. Miyatake · Jun Tanihata · Shin Takeda · Toshifumi Yokota · Janne Lehtiö · Matthew J.A. Wood · S. El Andaloussi · Thomas C. Roberts · Yoshitsugu Aoki · Yoshitsugu Aoki
P.100 - Auto calculation of muscle impairment ratio utilizing Mercuri grades from CT and MR images of muscle L. Wallace · Danielle A. Griffin · N. Pyne · J. Domire · L. Rodino-Klapac · S. Harper · S. Harper
P.241 - Comparative high resolution proteomic analysis of dystrophic mouse models reveals a core dystrophic proteome and the impact of aging Rianne J.M. Goselink · C. van Kernebeek · V. Schreur · Corrie E. Erasmus · Nicol C. Voermans · Thomas Theelen · B.G.M. van Engelen · B.G.M. van Engelen
P.490 - Palliative medicine and neuromuscular disorders in adults diseases and symptoms Simon Guiraud · B. Edwards · Sarah Squire · Arran Babbs · Nandini Shah · Adam Berg · H. Chen · Kay E. Davies · Kay E. Davies
Application of induced pluripotent stem cell technology for disease modelling and drug discovery in peripheral sensory neurons K. Suetterlin · R. Sud · J. Burge · S. McCall · D. Fialho · A Haworth · Mary G. Sweeney · Henry Houlden · Stephanie Schorge · E. Matthews · M.G. Hanna · Roope Männikkö · Roope Männikkö
Screening for Pompe disease in a Portuguese High Risk Population Emily C. Oates · Kyle S. Yau · Kristi J. Jones · J.E. Smith · Sandra Donkervoort · Lindsay C. Swanson · A. Charlton · Susan Brammah · A.J. Peduto · I. Richard · A. Ferreiro · Eric P. Hoffman · Kate Bushby · Volker Straub · Bjarne Udd · Monkol Lek · Daniel G. MacArthur · Henk Granzier · Alan H. Beggs · Carsten G. Bönnemann · Kathryn N. North · Mark R. Davis · Nigel G. Laing · Nigel G. Laing
A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs J. Maddison · J. Stewart · Douglass M. Turnbull · T. Rapley · T. Rapley
Novel GFM2 variants identified in two cases of early-onset mitochondrial disease cause impaired expression of mtDNA encoded OXPHOS subunits M. Lieto · M.J.A. Wood · Carlo Rinaldi · Carlo Rinaldi
Remodelling of bioenergetic pathways in human fibroblasts with carbohydrates Almeida · I Conceição · I Fineza · T Coelho · Fernando Tobias Silveira · Mercel José dos Santos · A Valverde · A Geraldo · R Maré · T Aguiar · C Mendonça · Júlio Martins · L Medeiros · C Barroso · Jp Vieira · T Moreno · L Negrão · M Silva Dias · L Lacerda · T Evangelista · T Evangelista
Binding to a novel RNA-protein complex creates specificity for small molecule splicing modifiers to treat SMA J. Spillane · C. Englezou · S. Sarri-Gonzales · Alexander M. Rossor · Michael P. Lunn · J. Manji · Mary M. Reilly · Aisling Carr · Aisling Carr
NHE1 inhibition as a potential therapy to attenuate DMD pathology M. Protasoni · J.-W. Taanman · J.-W. Taanman
Reproductive options in maternally inherited mitochondrial disease: making sense A. Vanhaesebrouck · R. Webster · J. Cheung · Susan Maxwell · J. Wickens · David Beeson · David Beeson
Dystrophin quantification on Western blotting: comparative analysis of different methods P. Ioannou · Umar Burki · Elizabeth Greally · S. Laval · S. Schaefer · Volker Straub · Volker Straub
Leigh Map: a novel diagnostic resource for mitochondrial disease A. Jones · Valentina Sardone · L. Feng · J.E. Morgan · Silvia Torelli · F. Muntoni · F. Muntoni
Vision DMD: A drug development program for vamorolone in Duchenne muscular dystrophy A. Paredes-Redondo · Y.-Y. Lin · Y.-Y. Lin
Skeletal muscle dysfunction and mitochondrial deficits in spinal muscular atrophy (SMA) Alexander M. Rossor · A. Rebelo · Alejandro Horga · Pedro J. Tomaselli · Michael Gonzalez · Stephan Züchner · Mary M. Reilly · Mary M. Reilly
Necroptosis, a programmed form of necrosis participates in muscle degeneration in Duchenne muscular dystrophy J. Rahman · A. Noronha · I. Thiele · Shamima Rahman · Shamima Rahman
Using a quantitative quadruple immunofluorescent assay to detect isolated Complex I deficiency N. Hellbach · K.D. McCarthy · S. Saenger · S. Peterson · U. Schmidt · S. Paushkin · C. Czech · Friedrich Metzger · Friedrich Metzger
Is cognitive impairment progressive in the mdx mouse Maximilien Bencze · Jinhong Meng · Veronica Pini · Francesco J. Conti · Francesco Muntoni · J.E. Morgan · J.E. Morgan
Developing novel human isogenic cellular models for Duchenne muscular dystrophy S.T. Ahmed · S. Hopton · Langping He · Charlotte L. Alston · Iain Hargreaves · Gavin Falkous · Mariana C. Rocha · Douglass M. Turnbull · Robert W. Taylor · Robert W. Taylor
Improving genetic diagnosis and counselling for patients with myotoniacongenita E. Bagdatlioglu · P. Porcari · Elizabeth Greally · A. Roos · Andrew M. Blamire · Volker Straub · Volker Straub
Comprehensive genetic characterization of an Argentinian cohort with amyotrophic lateral sclerosis R.L. Green · F.A. Simoes · C.C. Reyes-Aldasoro · Alexander M. Rossor · M. Scoto · M. Barri · Z. Sedlakova · Linda Greensmith · Francesco Muntoni · Mary M. Reilly · Majid Hafezparast · Majid Hafezparast
Monitoring pregnancy in Charcot-Marie-Tooth disease: results of a survey Matthew Thorley · Apostolos Malatras · Emilia Maria Cristina Mazza · L. Zhu · Stéphanie Duguez · William Duddy · William Duddy
Modulation of cytoplasmic dynein and tubulin modification as potential therapeutic targets in SMA-LED Judith N Hudson · S. Cameron · E. Graham · Teresinha Evangelista · Volker Straub · M. Guglieri · Rita Barresi · Hanns Lochmüller · Fiona Norwood · K. Bushby · Chiara Marini-Bettolo · Chiara Marini-Bettolo
Skeletal muscle channelopathies: new phenotypes and new genes Andreea Manole · Zane Jaunmuktane · Amelie Pandraud · M.G. Hanna · Mary M. Reilly · Dimitri M. Kullmann · J.E.C. Jepson · Henry Houlden · Henry Houlden
Mitochondrial dysfunction and abnormal calcium handling in cell models of Hereditary Sensory Neuropathy type I R. Tillmann · E. Milev · Danielle Ramsey · M. Main · M. Scoto · Francesco Muntoni · Francesco Muntoni
Myostatin inhibition for neuromuscular disorders: defining the good candidate I.F.G. Meyer · G. Schiavo · G. Schiavo
The glucocorticoid-KLF15-BCAA pathway as a novel therapeutic target for spinal muscular atrophy E. Wilson · Bernadett Kalmar · M. Kugathasan · A. Abramov · Mary M. Reilly · Linda Greensmith · Linda Greensmith
A feasibility study of bezafibrate in mitochondrial myopathy Virginie Mariot · R. Joubert · Christophe Hourdé · L. Servais · Michael G. Hanna · Thierry Maisonobe · Francesco Muntoni · L. Féasson · R. Le Panse · O. Benvensite · Tanya Stojkovic · Ana Buj-Bello · Pedro Machado · Thomas Voit · Julie Dumonceaux · Julie Dumonceaux
Mitochondrial dysfunction in a treatable childhood neuronopathy Lisa Marie Walter · Corinne Betts · Katharina E. Meijboom · T.L.E. van Westering · Gareth Hazell · Emily McFall · M.-O. Deguise · Rashmi Kothary · Matthew J.A. Wood · Melissa Bowerman · Melissa Bowerman
Respiratory involvement in Facioscapulohumeral Dystrophy H.E. Steele · Jane Newman · Djordje G. Jakovljevic · A.J. Scadeng · S.K. Clark · A.C. Jimenez-Moreno · Michael I. Trenell · J.D. Parikh · Kieren G. Hollingsworth · Andrew M. Blamire · R.D.S. Pitceathly · M.G. Hanna · Grainne S. Gorman · Robert McFarland · Douglass M. Turnbull · Robert W. Taylor · Rita Horvath · Patrick F. Chinnery · Patrick F. Chinnery
Clinical outcome study for dysferlinopathy: Sensitivity of outcome measures over one-year S. Moreira · Libby Wood · Chiara Marini-Bettolo · M. Guglieri · Grace McMacken · Geraldine Bailey · Anna Mayhew · R. Muni · G. Eglon · Debbie Smith · Maggie Williams · Hanns Lochmüller · Teresinha Evangelista · Teresinha Evangelista
Myofibrillar myopathy phenotype due to recessive mutations in MEGF10 J.B. Lilleker · M. Guy · Mark Roberts · J.A. Lamb · R.G. Cooper · H. Chinoy · H. Chinoy
Long-term treatment with the phosphorodiamidate morpholino oligomer eteplirsen in patients with Duchenne muscular dystrophy amenable to exon 51 skipping: analysis of dystrophin production E. Matthews · E. Matthews
Modulating mtDNA heteroplasmy with designer nucleases Ursula R Moore · M. James · A. Mayhew · M. Jacobs · J. Feng · Elizabeth Harris · Roberto Fernández-Torrón · K. Bettinson · H. Hilsden · Laura E. Rufibach · Avital Cnaan · Volker Straub · K. Bushby · K. Bushby
Muscle magnetic resonance imaging in VCP-related multi-system proteinopathy (IBMPFD): is the clue in thefat pockets? J. Charleston · F.J. Schnell · J. Dworzak · C. Donoghue · Sarah Lewis · L. Rodino-Klapac · Zarife Sahenk · J. Voss · U. DeAlwis · D. Frank · D. Frank
An audit on the reasons why patients failed to attend the Newcastle University Trust Hospitals Neuromuscular Clinics, at the John Walton Muscular Dystrophy Research Centre, and the actions taken S.R. Bacman · C.V. Pereira · J. Kauppila · Nils-Göran Larsson · J. Stewart · Carlos T. Moraes · Carlos T. Moraes
STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia Roberto Fernández-Torrón · Chiara Marini-Bettolo · Hanns Lochmüller · Volker Straub · Teresinha Evangelista · Teresinha Evangelista
Serum muscle damage markers in the idiopathic inflammatory myopathies: quantifying disease activity and identifying cardiac involvement S. Cameron · G. Eglon · L. Hastings · Volker Straub · M. Guglieri · Hanns Lochmüller · K. Bushby · Chiara Marini-Bettolo · Chiara Marini-Bettolo
Investigating the role of nidogens, basement membrane proteins, at theneuromuscular junction in health and disease Carl Fratter · Eszter Dombi · J. Carver · K. Sergeant · I.A. Barbosa · Monika Hofer · M. Esiri · David Hilton-Jones · Sandeep Jayawant · S. Olpin · C. Deshpande · M.A. Simpson · Joanna Poulton · Joanna Poulton
SMA REACH UK: Relationship between the Revised Hammersmith Scale (RHS) and Revised Upper Limb Module (RULM) in a UK cohort of patients with SMA type 2 and 3 R. Finkel · R. Finkel
Mitochondrial disease and lipid storage myopathy due to mutation in CHCHD10 or DNM1L and disordered mitochondrial dynamics Maria Dimitriadi · A. Derdowskic · Geetika Kalloo · Melissa S. Maginnis · P.O. Hern · B. Bliska · Altar Sorkaç · Ken C.Q. Nguyen · Steven J. Cook · George Poulogiannis · Walter J. Atwood · David H. Hall · Anne C. Hart · Anne C. Hart
Experimental trials in spinal muscular atrophy D. Natera-de Benito · Ana Töpf · Juan J. Vílchez · L. González-Quereda · J. Domínguez-Carral · Jordi Díaz-Manera · C. Ortez · M. Bestué · P. Gallano · Marina Dusl · Angela Abicht · Juliane S. Müller · Jan Senderek · A. García-Ribes · N. Muelas · Teresinha Evangelista · Yoshiteru Azuma · Grace McMacken · A. Paipa Merchan · P.M. Rodriguez Cruz · Ana I. Camacho · Esther Jiménez · M.C. Miranda-Herrero · A. Santana-Artiles · O. García-Campos · R. Dominguez-Rubio · Montse Olivé · J. Colomer · David Beeson · Hanns Lochmüller · A. Nascimento · A. Nascimento
SMN depletion causes defects in endosomal trafficking that impair synaptic function Leanne Ward · Kathi Kinnett · Lynda F. Bonewald · Jonathan D. Adachi · Laura K. Bachrach · Teresita Bellido · Marco Brotto · Joanne Donovan · Eric P. Hoffman · Mary B. Leonard · Hugh J. McMillan · Susan A. Novotny · Jill A. Rafael-Fortney · Frank Rauch · Leanne M. Ward · Stuart J. Warden · Stuart J. Warden
Molecular characterization of congenital myasthenic syndromes in Spain J. Palmio · S. Leonard · S. Sacconi · M. Savarese · A. Semmler · J. Bach · W. Kress · T. Mozaffar · T. Lai · T. Stojkovic · B. Schoser · M. Walter · R. Reisin · A. Berardo · S. Attarian · A. Urtizberea · F. Fatehi · P. Hackman · Bjarne Udd · Bjarne Udd
Expanding importance of HMERF titinopathy: new mutations and clinical aspects A. Puma · Matteo Garibaldi · E. Teveroni · Giancarlo Deidda · F. Moretti · Sabrina Sacconi · Sabrina Sacconi
Establishing a relationship between EQ-5D and QMG in patients with Lambert-Eaton myasthenic syndrome I. Alemdaroglu · N. Bulut · S. Bozgeyik · A. Karaduman · Haluk Topaloglu · O. Yılmaz · O. Yılmaz
P.346 - Estrogens as a potential disease modifier in FSHD: a retrospective clinical study Uluç Yiş · Kerstin Becker · Semra Hız Kurul · G. Uyanik · Erhan Bayram · Goknur Haliloglu · I. Polat · M. Ayanoglu · D. Okur · A. Tosun · Gul Serdaroglu · S. Yılmaz · Haluk Topaloglu · Banu Anlar · Sebahattin Cirak · Andrew G. Engel · Andrew G. Engel
P.465 - The reliability and validity of Turkish version of pedsQL multidimensional fatigue scale in Duchenne muscular dystrophy Giovanni Baranello · M. Arnoldi · R. Zanin · R. Masson · Chiara Mastella · R. De Amicis · Alberto Battezzati · Simona Bertoli · Simona Bertoli
P.417 - Genetic Landscape of congenital myasthenic syndroms from Turkey: novel mutations and clinical insights Jorge A. Bevilacqua · E. Malfatti · C. Labasse · Guy Brochier · A. Madelaine · Emmanuelle Lacène · J. Rendu · B. Doray · J. de Monredon · P. Laforêt · Bruno Eymard · Michel Fardeau · Norma B. Romero · Norma B. Romero
P.120 - Segmental body composition in young children with SMA type 2: Correlation with motor function abilities T. Willis · R. Kulshrestha · E. Curtis · C. Sewry · C. Sewry
Further insights in nemaline myopathy (NM) with hyaline masses Harmen Reyngoudt · S. Turk · Pierre G. Carlier · Pierre G. Carlier
P.288 - Unusual findings in a TPM3 case Gioele Capoferri · Gregorio P. Milani · Gian Paolo Ramelli · Alessandra Ferrarini · Mario G. Bianchetti · Sebastiano A. G. Lava · Sebastiano A. G. Lava
P.89 - 31P and 1H nuclear magnetic resonance spectroscopy characterization of skeletal muscle pH dysregulation in Duchenne muscular dystrophy patients at rest Karlien Mul · Corinne G.C. Horlings · Nicol C. Voermans · Tim H. A. Schreuder · Baziel G.M. van Engelen · Baziel G.M. van Engelen
P.348 - Retinal abnormalities in FSHD N. Witting · D. Daugaard · S. Prytz · J. Vissing · J. Vissing
211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17–19 April 2015, Naarden, The Netherlands Bas C. Stunnenberg · J. Raaphorst · Johanna C.W. Deenen · Thera P. Links · Arthur A.M. Wilde · D.J. Verbove · Erik-Jan Kamsteeg · A. van den Wijngaard · C.G. Faber · G.J. van der Wilt · B.G.M. van Engelen · Gea Drost · H.B. Ginjaar · H.B. Ginjaar
Myotubular and Centronuclear Myopathy Patient Registry: Accelerating the pace of research and treatment I. Zaharieva · Anna Sarkozy · Adnan Y. Manzur · P. Munot · G. O’Grady · John Rendu · H. Amthor · Laurent Servais · Edoardo Malfatti · J. Dixon · G. Poke · Sandra Donkervoort · A.R. Foley · Osorio Abath Neto · Mark R. Davis · J.A. Urtizberea · L. Bastaki · Norma B. Romero · E.C. Oates · C. Holmes · G. Williams · M. Sframeli · Sabrina W. Yum · L. Medne · S.Q. Roy · Julien Fauré · L. Feng · J.E. Morgan · Carsten G. Bönnemann · Rahul Phadke · C. Sewry · Susan Treves · Francesco Muntoni · Francesco Muntoni
A two part, multi-centre, multiple dose study of Erythrocyte Encapsulated Thymidine Phosphorylase (EETP) in patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) J. Bullivant · K. Napier · M. Radochonski · L. Render · A. Hunter · M. Spring · A. Lennox · M. Bellgard · H. Lochmüller · H. Lochmüller
Thromboembolic risk in inflammatory neuromuscular disease patients on long-term IVIg P. Munot · I. Zaharieva · L. Feng · R. Phadke · C. Sewry · E. Matthews · F. Muntoni · F. Muntoni
Microarray analysis of mdx mice overexpress estrogen-related receptor gamma (ERRγ) Andrea Cortese · M Laura · James M. Polke · Alexander M. Rossor · Pedro J. Tomaselli · Julian Blake · R. Poh · Michael P. Lunn · Henry Houlden · Mary M. Reilly · Mary M. Reilly
Respiratory function in facioscapulohumeral muscular dystrophy 1 Haiyan Zhou · Elena Marrosu · P. Ala · Francesco Muntoni · Francesco Muntoni
Spinal muscular atrophy: a global view on the burden of illness and clinical trial readiness Giulia Ferrari · H. Hoshiya · Martina Ragazzi · T. Casteels · S.M. Maffioletti · Yasuhiro Kazuki · Mitsuo Oshimura · Francesco Saverio Tedesco · Francesco Saverio Tedesco
Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness M. Wohlgemuth · Corinne G.C. Horlings · E.L. van der Kooi · H.J. Gilhuis · Jan C.M. Hendriks · S.M. van der Maarel · B.G.M. van Engelen · Yvonne F. Heijdra · George W. Padberg · George W. Padberg
Giant axonal neuropathy: natural history, outcome measures, and intrathecal AAV9 mediated gene transfer I.E.C. Verhaart · A. Robertson · C. Jones · S.F. Cook · Hanns Lochmüller · Hanns Lochmüller
CLINICAL FEATURES AND GENETIC FINDINGS IN PATIENTS WITH CHARCOT MARIE TOOTH DISEASE TYPE 2 (CMT2) DUE TO LRSAM1 MUTATION K. Johnson · Ana Töpf · M. Bertoli · L. Phillips · W. De Ridder · P. De Jonghe · Jonathan Baets · Tine Deconinck · Vidosava Rakocevic Stojanovic · Stojan Peric · Hacer Durmus · S. Omidi · Shahriar Nafissi · A. Lusakowska · Tiziana Mongini · Monkol Lek · Daniel G. MacArthur · Volker Straub · Volker Straub
Genotype-phenotype correlation analysis in GNE myopathy C.G. Bönnemann · D.X. Bharucha-Goebel · S.J. Gray · S.J. Gray
Investigating inherent cellular changes in patient-derived mutant VCP fibroblasts as a model of inclusion body myopathy Oksana Pogoryelova · P. Cammish · H. Mansbach · Hanns Lochmüller · Hanns Lochmüller
Cause of death in a cohort of mitochondrial patients Elizabeth Harris · Ana Töpf · Judith N Hudson · Rita Barresi · K. Bushby · Hanns Lochmüller · Volker Straub · Volker Straub
MtDNA oxidation can induce PINK1-dependent mitophagy independently of mitochondrial depolarisation M. AL-Siyabi · Helen Foster · W. Eilers · D. Pinheiro-Fadeyi · Antonios Matsakas · Ketan Patel · Keith Foster · Keith Foster
Mitochondrial physiology is compromised by mutations in DNAJC3 and may contribute to the clinical presentation of diabetes and neurodegeneration C. Spicer · M. Ahmed · Linda Greensmith · Linda Greensmith
SysMyo: tailored bioinformatics tools for omics data exploration in muscular dystrophy and other neuromuscular disorders L. King · M.G. Sweeney · Michael G. Hanna · H. Plun-Favreau · H. Plun-Favreau
Audit of unplanned hospital admissions for patients with neuromuscular disorders in the North East M.J. Jennings · D. Hathazi · M. Synofzik · Andreas Roos · Rita Horvath · Rita Horvath
CACNA1S related congenital myopathy with periodic paralysis and goodresponse to acetazolamide E. Elliott · H.J.A. van Ruiten · M. Guglieri · T. Evangelista · Hanns Lochmüller · Volker Straub · K. Bushby · C. Marini-Bettolo · C. Marini-Bettolo
Telethonin gene mutations detected by next generation sequencing M Skorupinska · M Laura · Karen Bull · B. Byrne · Mary M. Reilly · Mary M. Reilly
Human artificial chromosomes combined with iPS cells: a genomic integration-free therapy for Duchenne muscular dystrophy A Wallace · A Pietrusz · E Dewar · M Dudziec · K Jones · P Hennis · Annette Sterr · G Baio · K Butcher · P. Machado · M Laura · I Skorupinska · M Skorupinska · Michael I. Trenell · M.G. Hanna · Mary M. Reilly · Gita Ramdharry · Gita Ramdharry
Potential antisense oligonucleotide therapeutic approaches in COL6-related congenital muscular dystrophy P. Sivakumar · J. Humphrey · A. Ule · C. Bodo · W. Emmett · T. Ricketts · H. Oliveira · Eric T. Wang · David E. Housman · Linda Greensmith · E. Buratti · F. Baralle · V. Plagnol · A. Acevedo-Arozena · E.M.C. Fisher · P. Fratta · P. Fratta
Evaluating the benefits of community based aerobic training on the physical health and well-being of people with neuromuscular disease D. Pacitti · N. Nirmalananthan · B.E. Bax · B.E. Bax
Investigating dysfunctional RNA processing in TDP-43 mouse mutants Saif Huda · M. Cao · A. De Rosa · Mark Woodhall · Judy Cossins · Michelangelo Maestri · Rosa Ricciardi · D. Beeson · Angela Vincent · Angela Vincent
Development of Cerebral Organoid cultures for the study of the neuronal pathomolecular mechanisms of Mitochondrial NeurogastroIntestinal Encephalomyopathy (MNGIE) K. Maresh · F. Muntoni · F. Muntoni
Inhibition of the tyrosine phosphatase Shp2 alleviates the pathogeniceff ects of MuSK antibodies in vitro O.V. Poole · J. Panicker · A. Emmanuel · M.G. Hanna · R.D.S. Pitceathly · R.D.S. Pitceathly
Deep-phenotyping of the central nervous system in dystrophinopathies: the fear response D.T. Burns · Sandra Donkervoort · Diana Bharucha-Goebel · M. Giunta · B. Munro · M. Scavina · R. Foley · Juliane S. Müller · Carsten G. Bönnemann · Rita Horvath · Rita Horvath
Mitochondrial disease and pelvic organ dysfunction: an under-recognised but treatable clinical association Michael G. Thor · M.G. Hanna · Francesco Muntoni · Roope Männikkö · Roope Männikkö
A recessive mutation in EXOSC9 causes abnormal RNA metabolism resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy Yi Shiau Ng · Andrew M. Schaefer · J. Hall · Maria Elena Farrugia · Mark Roberts · T. Baird · C. Hirst · Robert W. Taylor · Douglass M. Turnbull · Robert McFarland · Grainne S. Gorman · Grainne S. Gorman
Recessive SCN4A loss of function in congenital myasthenic syndrome, congenital myopathy or fetal akinesia deformation sequence D.L. Raja Rayan · R. Sud · E. Matthews · M.G. Hanna · M.G. Hanna
A national cohort study of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) – implications to clinical practice and therapeutic study N. McCrea · Anna Sarkozy · S. Robb · Rachael Mein · P. Munot · A. Manzur · F. Muntoni · F. Muntoni
Diagnosing the undiagnosable: a targeted approach to genetic sequencingin unconfi rmed cases of skeletal muscle channelopathies A. Robertson · L. Bindoff · J.-P. Laurent · Katherine D. Mathews · A. Rutkowski · H. Stevenson · John Vissing · Maggie C. Walter · L. Woods · Volker Straub · Volker Straub
Diagnostic value of muscle MRI in rare congenital myopathies and collagen related muscular dystrophies L. Le Gall · William Duddy · Jeanne Lainé · S. Roquevière · F. Ratti · Z.G. Ouandaogo · Laura Robelin · A. Cécile Durieux · M. Del Mar Adamor · L. Lacomblez · G. Butler Browne · J.-L. Gonzalez De Aguilar · A. Méjat · C. Martinat · Pierre-François Pradat · Stephanie Duguez · Stephanie Duguez
D03 – Global FKRP registry Jeppe Buchbjerg · Enrico Bertini · E. Dessaud · Eugenio Mercuri · Francesco Muntoni · Janbernd Kirschner · Carol Reid · Anna Lusakowska · Giacomo P. Comi · Jean-Marie Cuisset · Jean-Louis Abitbol · Bruno Scherrer · Eduardo Vianna · W.L. van der Pol · C. Vuillerot · Paulo Fontoura · Thomas Blaettler · Thomas Blaettler
Secretion of toxic exosomes by muscle cells of ALS patients: role in ALS pathogenesis M.J. Hamilton · S. Cumming · J. McGhie · Berit Adam · J. McLean · R. Jampana · J.J. Evans · Cheryl Longman · Maria Elena Farrugia · Darren G. Monckton · Darren G. Monckton
A multinational, randomized, double-blind, placebo-controlled Phase 2 study to assess safety and efficacy of olesoxime in Type 2 or non-ambulatory Type 3 spinal muscular atrophy I. Skorupinska · E. Bugiardini · Y.S. Ng · Alejandro Horga · O.V. Poole · Robert McFarland · R.D.S. Pitceathly · Douglass M. Turnbull · M.G. Hanna · M.G. Hanna
Excessive daytime sleepiness, executive dysfunction and structural brain changes in myotonic dystrophy type 1: an update on the DM1-Neuro Study N. Nirmalananthan · M. Levene · M. Filosto · T. Klopstock · C. Kornblum · H. Mandel · S. Rahman · A. Roubertie · M. Scarpelli · B.E. Bax · B.E. Bax
P.340 - Translating DUX4-targeted RNAi therapy for Facioscapulohumeral muscular dystrophy Virginie Mariot · R. Joubert · Christophe Hourdé · L. Féasson · Michael G. Hanna · Francesco Muntoni · Thierry Maisonobe · L. Servais · R. Le Panse · O. Benveniste · Tanya Stojkovic · Pedro Machado · Thomas Voit · Ana Buj-Bello · Julie Dumonceaux · Julie Dumonceaux
Mitochondrial dysfunction in myotonic dystrophy type 1 Leanne M. Ward · Kathi Kinnett · Lynda F. Bonewald · Lynda F. Bonewald
P.450 - Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure Antonio Toscano · V. Emmanuele · Marco Savarese · Olimpia Musumeci · Annalaura Torella · E. Conca · Maurizio Moggio · Vincenzo Nigro · Carmelo Rodolico · Carmelo Rodolico
P.248 - Myotubular myopathy and excitation contraction coupling: From pathomechanism(s) to therapy S. Chae · S.J. Kim · D. Kim · Junghoon Shin · Junghoon Shin
P.148 - A case of caveolinopathy presenting as the mounding muscle disease Niklas Darin · Carola Hedberg-Oldfors · Anna-Karin Kroksmark · Ali-Reza Moslemi · Gittan Kollberg · Anders Oldfors · Anders Oldfors
Application of a CRISPR/Cas9 gene editing therapy in a novel humanized dystrophic mouse model of Duchenne muscular dystrophy L. Nastase · M. Desikan · S. Price · F. Crummy · J. Kahn · R. Quinlivan · R. Quinlivan
P.71 - Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1 J. Mecca · S. Astord · T. Marais · F. Relaix · N. Didier · Martine Barkats · Martine Barkats
P.10 - Analysis of mortality in a cohort of adult Duchenne muscular dystrophy Kate Carroll · Jennifer L. McGinley · Kade L. Paterson · Monique M. Ryan · R. Kennedy · R. Kennedy
P.131 - Role of muscle satellite cells in Spinal muscular atrophy physiopathology S. Monges · F. Lubieniecki · C. Paz Vargas Leal · F. de Castro · V. Aguerre · J. Mozzoni · E. Foncuberta · N. Monnier · J. Böhm · J. Laporte · E. Malfatti · M. Sacolitti · A. Taratuto · Norma Alicia Ruvalcaba Romero · Norma Alicia Ruvalcaba Romero
Falls in children and adolescents with Charcot-Marie-Tooth disease and typically developing children: a six month prospective study Junghoon Shin · Sung Heum Park · Junhyung Park · D. Kim · D. Kim
P.287 -Core-rodcongenital myopathy with bilateral foot-drop. A challenging clinical and genetic diagnosis E. Bush · C. Ward · T. Suchyna · F. Sacks · M. Blaustein · D. Escolar · D. Escolar
P.166 - A knock-in mouse model with nonsense dysferlin mutation Esther Poelman · M. Hoogeveen–Westerveld · M. Kroos-de Haan · J.M.P. van den Hout · Kees J. Bronsema · N. van de Merbel · A.T. van der Ploeg · W. Pijnappel · W. Pijnappel
AT-300, a calcium modulator, improves muscle force production and decreases muscle degeneration in D2-mdx model of Duchenne muscular dystrophy V. Bolduc · Ar Foley · Sandra Donkervoort · Ying Hu · B. Cummings · B. Cummings · M. Lek · M. Lek · A. Sarathy · K. Sizov · H. Degefa · R. Wagener · G. Hennig · E. Hanssen · Shireen R. Lamandé · Francesco Muntoni · S.D. Wilton · Daniel G. MacArthur · Daniel G. MacArthur · Carsten G. Bönnemann · Carsten G. Bönnemann
P.220 - Antibody formation to enzyme replacement therapy in classic infantile Pompe disease: effects of immunomodulation in naïve patients Marije Goudriaan · Nathalie Goemans · M. van den Hauwe · Kaat Desloovere · Kaat Desloovere
A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides J. Lee · Ha-Young Shin · Yuri Choi · Yuri Choi
P.224 - Monitoring physical activity using a wearable device in Pompe disease S. Kapetanovic · L. Varona · K. Septien · M. Fernandez · E. Gallardo · M. Idoate · M. Garcia Barcina · M. Garcia Barcina
P.2 - The association between muscle weakness and gait deviations in children with Duchenne muscular dystrophy Andoni Echaniz-Laguna · Xavière Lornage · Béatrice Lannes · Raphaël Schneider · G. Bierry · Nicolas Dondaine · Jean-François Deleuze · Johann Böhm · Julie D. Thompson · J. Laporte · Valérie Biancalana · Valérie Biancalana
A case of epidermolysis bullosa simplex and muscular dystrophy with myasthenic symptoms caused by two novel PLEC mutations S. Holm-Yildiz · N. Witting · F. Fornander · A. Eisum · Morten Duno · T. Sorensen · John Vissing · John Vissing
P.471 - Adult onset recessive titinopathy with EDMD-like phenotype mimicking an acquired myositis S. Valipakka · M. Savarese · M. Johari · L. Sagath · M. Arumilli · A. Saenz Pena · A. de Munain Arregui · A. Cobo Esteban · K. Pelin · B. Udd · P. Hackman · P. Hackman
P.302 - In vivo analysis of dystrophin (re-) expression in DmdEGFP and DmdEGFP-mdx reporter mice C. Young · E. Mokhonova · M. Quinonez · A. Pyle · Melissa J. Spencer · Melissa J. Spencer
Palliative care in children with spinal muscular atrophy type 1: how do they die? Results from a French multicentric study (National Hospital Clinical Research Program) M. Petkova · C. Laplace-Builhé · A. Goyenvalle · L. Garcia · Markus Schuelke · H. Amthor · H. Amthor
P.233 - Permanent muscle weakness in hypokalemic periodic paralysis Alvaro Rendon · O. Vacca · Cyrille Vaillend · Cyrille Vaillend
P.171 - CNTNAP1: Extending the phenotype of congenital hypomyelinating neuropathy in 6 further patients James J. Dowling · N. Sabha · N. Maani · J. Volpatti · H. Gonorazky · K. Rezai · L. Groom · R. Dirksen · R. Dirksen
Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy Katalin Koczok · Gabriella Merő · Gabriella P. Szabó · László Madar · Éva Gombos · Éva Ajzner · János András Mótyán · Tibor Hortobágyi · Tibor Hortobágyi · Istvan Balogh · Istvan Balogh
Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis Filip Eftimov · Carina Bunschoten · Yusuf A. Rajabally · Luis Querol · Luis Querol
218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016 G. Tasca · Bjarne Udd · Bjarne Udd
A boy with neck weakness Amir Golsari · Arzoo Nasimzadah · Götz Thomalla · Sarah Keller · Christian Gerloff · Tim Magnus · Tim Magnus
DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine Marco A. Marra · L. Heskamp · Karlien Mul · S. Lassche · Baziel G.M. van Engelen · Arend Heerschap · Nico Verdonschot · Nico Verdonschot · Nico Verdonschot
Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective Alison Robertson · Simon Woods · Simon Woods
P.293 - Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamide Ivana Dabaj · R. Ben Yaou · Carsten G. Bönnemann · A. Nascimento · A. Rutkowski · R. Erazo Torricelli · Francesco Muntoni · E. Lagrue · J. Dowling · Kate Bushby · C. Casteglioni · K. Kleinsteuber · M. Lorenzo · A. Ishiyama · T. Sejersen · J. Gurgel-Giannetti · S. Monges · Gisèle Bonne · Susana Quijano-Roy · Susana Quijano-Roy
Consistency of efficacy of Idebenone in respiratory decline in Duchenne muscular dystrophy (DMD): comparison of analysis methods L. Heskamp · Marco A. Marra · Karlien Mul · B.G.M. van Engelen · Nico Verdonschot · Arend Heerschap · Arend Heerschap
P.137 - Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies K. Rudolf · K. Knak · Nanna Witting · J. Vissing · J. Vissing
P.345 - Specific strength is reduced in facioscapulohumeral dystrophy muscles. An MRI-based musculoskeletal analysis Claudio Semplicini · Cinzia Bertolin · B. Pantic · Luca Bello · S. Vianello · F. Catapano · Irene Colombo · Maurizio Moggio · Gianni Sorarù · Giovanna Cenacchi · C. Calore · Roberto Stramare · Elena Pegoraro · Elena Pegoraro
P.497 - Axial myopathy in patients with neuromuscular diseases M. Miyakawa · T. Yonekawa · May Christine V. Malicdan · E. Lach-Trifilieff · Ikujiro Nonaka · Ichizo Nishino · S. Noguchi · S. Noguchi
EC.O.2 - The blurred scenario of the new Calcium-related myopathies: clinical, radiological and molecular characterization of CASQ1, STIM1 and ORAI1 myopathies diagnosed in Padova neuromuscular center N. Tawara · Satoshi Yamashita · X. Zhang · Z. Zhang · T. Doki · Y. Matsuo · Shunya Nakane · Yasushi Maeda · Yukio Ando · Yukio Ando
P.449 - Muscle growth by activin type II receptor blocking ameliorates weakness in GNE myopathy mice K. Amburgey · S. Hewson · C. Hum · M. Glueck · N. Sultanum · M. Girdea · M. Brudno · C. Bönnemann · J. Dastgir · R. Amin · O. Mayer · A. Constantinescu · F. Syed · T. Tran · M. Jain · L. Nelson · A. Beggs · C. Genetti · J. Dowling · J. Dowling
P.190 - Establishment of novel autoimmune animal model for sporadic inclusion body myositis K. Low · K. Stals · R. Caswell · J. Clayton-Smith · A. Donaldson · Nicola Foulds · M. Splitt · A. Norman · K. Urankar · K. Vijayakumar · D. Study · S. Ellard · A. Majumdar · S. Smithson · S. Smithson
P.280 - The natural history of nemaline myopathy M. Hully · Christine Barnerias · S. Vanesse · M. Viallard · Isabelle Desguerre · Isabelle Desguerre
A novel mutation in HSPB8 causes dominant adult-onset axial and distal myopathy R. Wigley · R. Scalco · A Gardiner · S. Booth · S. Chatfield · R. Godfrey · M. Desikan · R. Kirk · David Hilton-Jones · Henry Houlden · R. Quinlivan · R. Quinlivan
Copy number variation analysis increases the diagnostic yield of NGS studies in muscle disease patients Andrew R. Findlay · Matthew Harms · Alan Pestronk · Conrad C. Weihl · Conrad C. Weihl
231st ENMC International Workshop:: International Standard for CIDP Registry and Biobank, Naarden, The Netherlands, 12-14 May 2017 Munevver Celik Gokyigit · Hakan Ekmekci · Hacer Durmus · Necdet Karli · Emel Koseoglu · Fikret Aysal · Dilcan Kotan · Asuman Ali · Pinar Kahraman Koytak · H. Karasoy · Aylin Yaman · İhsan Sukru Sengun · Refah Sayin · Bedile Irem Tiftikcioglu · Aysun Soysal · Kemal Tutkavul · Ayse Oytun Bayrak · Aysin Kisabay · Mehmet Ali Elci · Vildan Yayla · İbrahim Arda Yılmaz · Sevim Erdem Ozdamar · Çağdaş Erdoğan · Nebahat Tasdemir · Piraye Oflazer · Feza Deymeer · Yesim Parman · Murat Kendirci · Saadet Sayan · Lale Gundogdu Celebi · Kayihan Uluc · Tulin Tanridag · Nur Yüceyar · O. Ekmekci · Beril Donmez Colakoglu · Serefnur Ozturk · Hulya Tireli · Deniz Selcuki · Ayşe Münife Neyal · Yusuf Kayran · Mehmet Ufuk Aluçlu · Hasan Rifat Koyuncuoglu · Figen Tokucoglu · Yaprak Secil · Figen Guney · Eren Gozke · Hatice Balaban · Mehmet Ali Akalin · Ayse Filiz Koc · Serap Mulayim · Nilda Turgut · Nilda Turgut
Posters and Platform Presentations: Other Diseases and DiagnosticsOD16 - Developing digital tools for improving patient and family engagement in paediatric clinical research Wenhua Zhu · Masaki Eto · Satomi Mitsuhashi · Kazushiro Takata · Goichi Beck · Hisae Sumi-Akamaru · Hideki Mochizuki · Saburo Sakoda · Masanori P. Takahashi · Ichizo Nishino · Ichizo Nishino
Characterisation of MYO9A as a pre-synaptic CMS gene Amalia Feresiadou · Olivera Casar-Borota · Anca Dragomir · Carola Hedberg Oldfors · Erik Stålberg · Anders Oldfors · Anders Oldfors
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing Deepa Krishnakumar · Deepa Krishnakumar
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up L. Harlaar · Pierluigi Ciet · A.T. van der Ploeg · Esther Brusse · N.A.M. van der Beek · Piotr A. Wielopolski · M. de Bruijne · M. de Bruijne · Harm A.W.M. Tiddens · P. A. van Doorn · P. A. van Doorn
Tubular aggregates in congenital myasthenic syndrome Mafalda Bacalhau · Marta Simões · Mariana C. Rocha · Steven A. Hardy · Amy E. Vincent · João Durães · Maria Carmo Macário · Maria João Santos · Olinda Rebelo · Carla Lopes · João Pratas · Cândida Mendes · Mónica Zuzarte · A. Cristina Rego · Henrique Girão · Lee-Jun C. Wong · Robert W. Taylor · Manuela Grazina · Manuela Grazina
Imaging of respiratory muscles in neuromuscular disease: A review Sucharita Ray · Deepti Vibha · Gauri Gupta · Kameshwar Prasad · Achal Ku Srivastava · Garima Shukla · Garima Shukla
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant Ernestina Santos · António Braga · Denis Gabriel · Sara Duarte · Ana Martins da Silva · Ilda Matos · Marta Freijo · João Martins · Fernando Ricardo Xavier da Silveira · Goreti Nadais · Filipa Sousa · Carla Fraga · Rosa Santos Silva · Carlos Lopes · Guilherme Gonçalves · Clara Pinto · Jorge Braga · M I Leite · M I Leite
Severe persistent injection site reactions after subcutaneous 2′-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy Oksana Pogoryelova · Phillip Cammish · Hank Mansbach · Zohar Argov · Ichizo Nishino · Alison Skrinar · Yiumo Chan · Shahriar Nafissi · Hosein Shamshiri · Emil Kakkis · Hanns Lochmüller · Hanns Lochmüller
Concurrent ophthalmoplegia due to thyrotoxicosis and myasthenia: catching two birds in the bush Stephanie Carr · M. Ritso · T. Brand · Andreas Roos · K. Lorenz · Hanns Lochmüller · Hanns Lochmüller
MuSK myasthenia gravis and pregnancy Richard S. Finkel · Eugenio Mercuri · Oscar H. Meyer · Mary K. Schroth · Robert J. Graham · Janbernd Kirschner · Susan T. Iannaccone · Susan T. Iannaccone · Thomas O. Crawford · Simon Woods · Francesco Muntoni · Brunhilde Wirth · Jacqueline Montes · M. Main · E. Mazzone · Michael G. Vitale · Brian D. Snyder · Susana Quijano-Roy · Enrico Bertini · Rebecca Hurst Davis · Ying Qian · Thomas Sejersen · Thomas Sejersen
Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion Paulo Victor Sgobbi de Souza · Thiago Bortholin · Fernando George Monteiro Naylor · Wladimir Bocca Vieira de Rezende Pinto · Acary Souza Bulle Oliveira · Acary Souza Bulle Oliveira
Studying mdx cardiomyocyte hypertrophy in vitro N. Nikolenko · A.C. Jimenez-Moreno · T. Gomes · Libby Wood · D. Moat · J. Newman · R. Fernandez-Torrón · A. Roos · A. Atalaia · Darren G. Monckton · Chris Turner · Hanns Lochmüller · Hanns Lochmüller
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics M. James · A. Mayhew · M. Eagle · U. Moore · R. Muni Lofra · H. Hilsden · K. Bettinson · Elizabeth Harris · Volker Straub · K. Bushby · K. Bushby
Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation Eugenio Mercuri · Richard S. Finkel · Francesco Muntoni · Brunhilde Wirth · Jacqueline Montes · M. Main · E. Mazzone · Michael G. Vitale · Brian D. Snyder · Susana Quijano-Roy · Enrico Bertini · Rebecca Hurst Davis · Oscar H. Meyer · Mary K. Schroth · Robert J. Graham · Janbernd Kirschner · Susan T. Iannaccone · Thomas O. Crawford · Simon Woods · Ying Qian · Thomas Sejersen · Francesco Danilo Tiziano · Eduardo F. Tizzano · Haluk Topaloglu · K.J. Swoboda · Nigel G. Laing · Saito Kayoko · Thomas W. Prior · Wendy K. Chung · Shou-Mei Wu · Elena Stacy Mazzone · Caron Coleman · Richard Gee · Allan M. Glanzman · Anna-Karin Kroksmark · Kristin J. Krosschell · Leslie Nelson · Kristy J. Rose · Agnieszka Stępień · Carole Vuillerot · Jean Dubousset · David Farrington · Jack Flynn · Carol Hasler · Lotfi Miladi · Christopher Reilly · Benjamin Roye · Paul D. Sponseller · Muharrem Yazici · Rebecca Hurst · Stacey Tarrant · Salesa Barja · Simona Bertoli · Thomas O. Crawford · Kevin Foust · Barbara Kyle · Lance Rodan · Helen Roper · Erin Seffrood · Kathryn J. Swoboda · Agnieszka Szlagatys-Sidorkiewicz · Agnieszka Szlagatys-Sidorkiewicz
Myotonic dystrophy trial readiness Laura Ludovica Gramegna · Maria Pia Giannoccaro · David Neil Manners · Claudia Testa · Stefano Zanigni · Stefania Evangelisti · Claudio Bianchini · Federico Oppi · Roberto Poda · Patrizia Avoni · Raffaele Lodi · Rocco Liguori · Caterina Tonon · Caterina Tonon
Posters and Platform Presentations: DystrophyD20 - Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy Megan A. Waldrop · Megan A. Waldrop · Felecia Gumienny · Saleh El Husayni · Diane E. Frank · Robert B. Weiss · Kevin M. Flanigan · Kevin M. Flanigan · Kevin M. Flanigan
228Th ENMC international workshop: airway clearance techniques in neuromuscular disorders 3-5 march, 2017, naarden, the netherlands Hacer Durmus · Xin Ming Shen · Piraye Serdaroglu-Oflazer · Bulent Kara · Yesim Parman-Gulsen · Coşkun Özdemir · Joan M. Brengman · Feza Deymeer · Andrew G. Engel · Andrew G. Engel
226th ENMC International Workshop: . Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands E. O’Connor · I. Cordts · Andreas Roos · Hanns Lochmüller · Hanns Lochmüller
P.359 - Different kinetic profiles of 2 patients presenting with muscle b-enolase deficiency Johann Böhm · Raphaël Schneider · Edoardo Malfatti · V. Schartner · Xavière Lornage · I. Nelson · Gisèle Bonne · Bruno Eymard · Juliette Nectoux · F. Leturcq · Marc Bartoli · Martin Krahn · S. Saker · Isabelle Richard · Anne Boland · Jean-François Deleuze · Valérie Biancalana · Julie D. Thompson · J. Laporte · J. Laporte
Corrigendum to22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd–7th October 2017[Neuromuscular Disorders 27S2 (2017) S51–S270] M. Toussaint · M. Chatwin · J. Gonzalez · D.J. Berlowitz · D.J. Berlowitz
NG.I.4 - AAV-mediated gene therapy in central nervous system of dystrophin-Dp71 deficient mouse Carmen Palma · Carmen Prior · Clara Gómez-González · Carlos Rodríguez-Antolin · Paloma Martínez-Montero · Lucía Pérez de Ayala · Samuel I. Pascual · Jesús Molano Mateos · Jesús Molano Mateos
P.292 - Novel homozygous recessive MYH2 variant associated with an autosomal dominant clinical pathological phenotype Florian Brackmann · Matthias Türk · Nils Gratzki · Oliver Rompel · Heinz Jungbluth · Heinz Jungbluth · Heinz Jungbluth · Rolf Schröder · Regina Trollmann · Regina Trollmann
P.327 - Integrated analysis of the large-scale sequencing projectMyocaptureto identify novel genes for myopathies B.M. van der Sluijs · S. Lassche · G.J. Knuiman · Benno Küsters · Arend Heerschap · Maria T. E. Hopman · Tim H. A. Schreuder · B.G.M. van Engelen · Nicol C. Voermans · Nicol C. Voermans
A SCN4A mutation causing paramyotonia congenita N.M. Murillo-Melo · L.C. Márquez-Quiróz · R. Gómez · L. Orozco · E. Mendoza-Caamal · Y.S. Tapia-Guerrero · R. Camacho-Mejorado · H. Cortés · A. López-Reyes · C. Santana · G. Noris · O. Hernández-Hernández · Bulmaro Cisneros · J.J. Magaña · J.J. Magaña
Non Invasive mechanical ventilation in Myotonic dystrophy type 1?: hypoventilation versus quality of life prespective Uluç Yiş · Kerstin Becker · Sebahattin Cirak · Sebahattin Cirak
Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy Andrea Vianello · Giovanna Arcaro · Piera Peditto · Silvia Iovino · Rosario Marchese-Ragona · Rosario Marchese-Ragona
Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution Tommaso Tartaglione · Claudia Brogna · Lara Cristiano · Tommaso Verdolotti · Marika Pane · Luana Ficociello · Lavinia Fanelli · Cesare Colosimo · Eugenio Mercuri · Eugenio Mercuri
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data Roberto De Sanctis · Marika Pane · Giorgia Coratti · Concetta Palermo · Daniela Leone · Maria Carmela Pera · Emanuela Abiusi · Stefania Fiori · Nicola Forcina · Lavinia Fanelli · Simona Lucibello · E. Mazzone · Francesco Danilo Tiziano · Eugenio Mercuri · Eugenio Mercuri
227th ENMC International Workshop: . Finalizing a plan to guarantee quality in translational research for neuromuscular diseases Heemskerk, Netherlands, 10-11 February 2017 Ghilas Boussaïd · Frédéric Lofaso · David Orlikowski · Dante Santos Brasil · Stéphane Bahrami · Hélène Prigent · Hélène Prigent
Proceedings of a Parent Project Muscular Dystrophy Bone Health Workshop: Morbidity due to osteoporosis in DMD: The Path Forward May 12–13, 2016, Bethesda, Maryland, USA Simone Schmidt · Simone Schmidt · Patricia Hafner · Andrea Klein · Andrea Klein · Daniela Rubino-Nacht · Vanya Gocheva · Jonas Schroeder · Arjith Naduvilekoot Devasia · Stephanie Zuesli · Guenther Bernert · Vincent Laugel · Clemens Bloetzer · Maja Steinlin · Andrea Capone · Monika Gloor · Patrick Tobler · Tanja Haas · Oliver Bieri · Thomas Zumbrunn · Dirk Fischer · Dirk Fischer · Ulrike Bonati · Ulrike Bonati · Ulrike Bonati
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy Raffaella Willmann · Filippo Buccella · Annamaria De Luca · Miranda D. Grounds · Miranda D. Grounds
Low-level dystrophin expression attenuating the dystrophinopathy phenotype György Máté Milley · Edina Timea Varga · Edina Timea Varga · Zoltan Grosz · Csilla Nemes · Zsuzsanna Arányi · Judit Boczán · P. Diószeghy · Mária Judit Molnár · Anikó Gál · Anikó Gál
CorrigendumCorrigendum to Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient [Neuromuscular Disorders 27 (2017) 856–860] John Rendu · C. Bosson · N. Roux-Buisson · A. Chatagnon · B. Bankole · F. Rivier · J. Durigneux · Soledad Monges · T. Stojkovic · Norma B. Romero · I. Marty · Julien Fauré · Julien Fauré
224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016 Annemieke Aartsma-Rus · Alessandra Ferlini · Elizabeth M. McNally · Pietro Spitali · H. Lee Sweeney · Christina Al Khalili Szigyarto · Luca Bello · Abby Bronson · Kristy J. Brown · Filippo Buccella · Jessica Chadwick · D. Frank · Eric P. Hoffman · Jane Larkindale · Graham McClorey · Rick Munschauer · Francesco Muntoni · Jane Owens · Ulrike Schara · Volker Straub · Jon Tinsley · Jenny Versnel · Elizabeth Vroom · Ellen Welch · Ellen Welch
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies O. Veldhuizen · C. Turner · M. Hails · R. Bendixen · Volker Straub · Volker Straub
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough R. Battini · D. Chieffo · S. Bulgheroni · Giorgia Piccini · C. Pecini · S. Lucibello · S. Lenzi · F. Moriconi · M. Pane · Guja Astrea · Giovanni Baranello · Paolo Alfieri · Stefano Vicari · D. Riva · Giovanni Cioni · E. Mercuri · E. Mercuri
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy Vilma-Lotta Lehtokari · Maria Gardberg · Katarina Pelin · Carina Wallgren-Pettersson · Carina Wallgren-Pettersson
Effects of botulinum toxin injections in the cricopharyngeal muscle of OPMD and IBM myopathies with dysphagia E. Mercuri · Nathalie Goemans · G. Sajeev · Z. Yao · E. McDonnell · S. Ward · James Signorovitch · James Signorovitch
TH.I.10 - Neuromuscular disorders genetics: what is the best that we can do? M. Guilbaud · C. Gentil · I. Holtzmann · C. Gruszczynski · S. Falcone · Cécile Peccate · S. Benkhelifa-Ziyyat · Stéphanie Lorain · F. Aurade · L. Jeanson-Leh · F. Piétri-Rouxel · F. Piétri-Rouxel
P.237 - MicroRNAs involved in nNOS regulation in dystrophic context M Dudziec · Mary M. Reilly · Gita Ramdharry · Gita Ramdharry
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care Bobby McFarland · Bobby McFarland · Laurence A. Bindoff · Grainne S. Gorman · Rita Horvath · Doug M. Turnbull · Doug M. Turnbull
Global FKRP registry D. Saade · Diana Bharucha-Goebel · G. Norato · A.R. Foley · M. Waite · M. Jain · S. Debs · R. Vasavada · C. Nichols · R. Kaur · Sandra Donkervoort · S. Neuhaus · Y. Hu · T. Lehky · S. Gray · M. Fink · M. Fink
NMJ+C03 – Characterisation of MYO9A as a pre-synaptic CMS gene Nanna W. Dombernowsky · Joakim N.E. Ölmestig · Nanna Witting · Christina Kruuse · Christina Kruuse
Workshop report. 221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands Luisa Politano · Vincenzo Nigro · Vincenzo Nigro
Abolition of the NLRP3 inflammasome improves the dystrophic phenotype in a murine model of DMD J. Patrick Gonzalez · Eric Himelman · Myriam A. Badr · Chifei Kang · Julie Nouet · Nadezhda Fefelova · Lai‐Hua Xie · Natalia Shirokova · Jorge E. Contreras · Diego Fraidenraich · Diego Fraidenraich
Natural history of the heart in myotonic dystrophy type 1: a cardiac magnetic resonance imaging follow-up of 11 patients E. Bugiardini · O.V. Poole · A. Pittman · C.E. Woodward · Mary G. Sweeney · Simon Heales · Henry Houlden · M.G. Hanna · R.D.S. Pitceathly · R.D.S. Pitceathly
Clinical heterogeneity in andersen-tawil syndrome P. Marti · N. Muelas · Jordi Díaz-Manera · Juan J. Vílchez · Juan J. Vílchez
P.460 - Unraveling upper extremity performance in DMD: a biophysical model E. Gargaun · K. Aragon-Gawinska · A. Seferian · T. Gidaro · S. Gilabert · C. Lilien · A. Colcer · K. Boukouti · C. Vuillerot · C. Cances · A. Daron · M. Annousamy · A. De · L. Flet Berliac · H. Armier · L. Fiedler · L. Servais · L. Servais
P.85 - Usefulness of MRI in cases of hyperCKemia M. Johari · Meharji Arumilli · Marco Savarese · Johanna Palmio · G. Tasca · Massimiliano Mirabella · Lorenzo Maggi · Peter Hackman · B. Udd · B. Udd
P.383 - First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1 L. Heskamp · M. van Nimwegen · Guillaume Bassez · A.C. Jimenez-Moreno · M. Ploegmakers · J. Deux · G. Gorman · Hanns Lochmüller · M. Catt · B.G.M. van Engelen · Arend Heerschap · Arend Heerschap
P.196 - Sporadic inclusion body myositis: A polygenic disorder? K. Johnson · A. Martinez Arroyo · Miren Zulaica · Roberto Fernández-Torrón · A. Lopez de Munain · Ana Töpf · M. Bertoli · L. Phillips · A. Blain · M. Ensini · Monkol Lek · T. Mullen · E. Valkanas · L. Xu · Daniel G. MacArthur · Volker Straub · Volker Straub
P.276 - Muscular fat fraction correlates with functionality in myotonic dystrophy type 1 Anna Sarkozy · I. Zaharieva · A. Nasca · C. Scotton · Rita Selvatici · Marcella Neri · O. Magnusson · A. Gal · D. Weaver · A. Armaroli · Marika Pane · G. Hajnóczky · C. Sewry · Rahul Phadke · A. Donati · Eugenio Mercuri · Massimo Zeviani · Francesco Muntoni · Daniele Ghezzi · Alessandra Ferlini · Alessandra Ferlini
P.443 - Identification and characterisation of ATP2A1 variants through whole exome sequencing P. Laforêt · Edoardo Malfatti · C. Metay · V. Jobic · Robert-Yves Carlier · Robert-Yves Carlier
NG.O.11 - Recessive mutations in novel gene MST01 cause early onset neuromuscular condition J. Witherspoon · R. Vasavada · M. Waite · I. Chrismer · M. Jain · K. Meilleur · K. Meilleur
P.185 - First case report of Nivolumab-induced dermatomyositis Gita Ramdharry · F. Jones · S. Holmes · N. James · S. Booth · M.M. Reilly · M.G. Hanna · M.G. Hanna
P.56 - Predominant posterior cerebral cortical atrophy in patients with DMD mutations J. Bourgeois Vionnet · B. Joubert · E. Bernard · N. Fabien · M. Sia · V. Pante · J. Honnorat · N. Streichenberger · N. Streichenberger
P.477 - 6-Minute walk test as a fatigability measure in RYR1-related myopathies J. Forbes · T. Genesini · A. Mouzat · A. Bogochvol · D. Castro · D. Rüdiger · E. Padovan · E. Macedo · F. Fonseca · H. Andrade · H. Silva · L. Lise · L. Dantas · M. Naccache · T. Valladares · R. Pavanello · Mayana Zatz · Mayana Zatz
Genetic and histological characterisation of excitation-contraction coupling related structural myopathy cohort N. Laing · N. Laing
P.260 - Pseudo-dominant inheritance of a novel homozygous HACD1 mutation associated with congenital myopathy: The first caucasian family Eugenio Mercuri · Richard S. Finkel · Janbernd Kirschner · Claudia A. Chiriboga · Nancy L. Kuntz · P. Sun · S. Gheuens · C. Bennett · E. Schneider · Wildon Farwell · Wildon Farwell
P.453 - Consistency between natural history and clinical trial placebo arms for 48-week changes in six-minute walk distance (6MWD) in patients with Duchenne muscular dystrophy (DMD) Serenella Servidei · G. Primiano · V. Muto · C. Cuccagna · D. Bernardo · Donato Sauchelli · Cristina Sancricca · M. Lucchini · Massimiliano Mirabella · M. Tartaglia · M. Tartaglia
P.378 - Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): end of study results from the phase 3 CHERISH study Craig M. McDonald · Erik Henricson · Richard T. Abresch · T. Duong · Nanette C. Joyce · F. Hu · Paula R. Clemens · Eric P. Hoffman · Avital Cnaan · Heather Gordish-Dressman · Heather Gordish-Dressman
P.179 - PLEC gene mutations cause familial disto-proximal myopathy and long QT syndrome mimicking mitochondrial disease Hanns Lochmüller · A. Behin · Y. Caraco · H. Lau · M. Mirabella · I. Tournev · M. Tarnopolsky · Oksana Pogoryelova · J. Shah · T. Koutsoubos · A. Skrinar · H. Mansbach · E. Kakkis · T. Mozaffar · T. Mozaffar
P.59 - Long-term benefits of glucocorticoids in Duchenne muscular dystrophy: is it worth it? Ariana Kariminejad · M. Dahl-Halvarsson · Gianina Ravenscroft · F. Afroozan · E. Keshavarz · H. Goullée · Mark R. Davis · Nigel G. Laing · Homa Tajsharghi · Homa Tajsharghi
P.178 - A phase 3 randomized, double blind, placebo-controlled study to evaluate the efficacy and safety of sialic acid extended-release tablets in patients with GNE myopathy (GNEM) Pietro Spitali · Roula Tsonaka · Kristina M. Hettne · Zaïda Koeks · A. Roos · Volker Straub · J. Piscos Domingos · Francesco Muntoni · Cristina Al-Khalili-Szigyarto · H. Lochmueller · Erik H. Niks · Annemieke Aartsma-Rus · Annemieke Aartsma-Rus
P.493 - TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor L. Gonzalez-Quereda · M. Rodriguez · A. Nascimento · C. Ortez · C. Jou · J. Milisenda · Jordi Díaz-Manera · I. Jerico · I. Tejada · P. Gallano · P. Gallano
Longitudinal proteomic analysis of sera allows to non-invasively monitor disease progression in Duchenne muscular dystrophy N. Chrestian · M. Sylvain · J. Karamchandani · J. Karamchandani
P.335 - Two different NGS approaches to address molecular diagnosis of congenital neuromuscular diseases Yasushi Maeda · Y. Yonemochi · Y. Nakajyo · H. Hidaka · T. Ikeda · Yukio Ando · Yukio Ando
P.290 - A new TNNT1 mutation in a non Amish patient with original muscle pathology findings Sigrid Baldanzi · Costanza Simoncini · Giulia Ricci · C. Angelini · Gabriele Siciliano · Gabriele Siciliano
CXCL12 and osteopontin from bone marrow-derived mesenchymal stromal cells improve muscle regeneration by influencing upon muscle satellite cell and myoblast Andreas Roos · Jan Senderek · Daniel Cox · M. Wiessner · René P. Zahedi · R. Charlton · Rita Barresi · Denisa Hathazi · Hanns Lochmüller · Hanns Lochmüller
P.267 - Clinical variability in myotonic dystrophy type 1: a five-categories disease classification fits clinical but not brain complexity Miranda D. Grounds · Robert B. White · E. Lloyd · Gavin J. Pinniger · Gavin J. Pinniger
Autosomal recessive myopathy associated with cataracts and learning difficulties caused by INPP5K mutations: a new syndromic gene linking four overlapping rare recessive neuromuscular disorders Marco Savarese · Annalaura Torella · Olimpia Musumeci · Corrado Angelini · Guja Astrea · Luca Bello · Claudio Bruno · Giacomo P. Comi · Giuseppina Di Fruscio · Giulio Piluso · Giuseppe Di Iorio · Manuela Ergoli · Gaia Esposito · Marina Fanin · Olimpia Farina · Chiara Fiorillo · Arcomaria Garofalo · Teresa Giugliano · Francesca Magri · Carlo Minetti · Maurizio Moggio · Luigia Passamano · Elena Pegoraro · Ester Picillo · Simone Sampaolo · Filippo M. Santorelli · Claudio Semplicini · Bjarne Udd · Bjarne Udd · Antonio Toscano · Luisa Politano · Vincenzo Nigro · Vincenzo Nigro
New insights into lipid accumulation in dysferlin deficient muscular dystrophies Roberta Brusa · Francesca Magri · Dimitra Papadimitriou · Alessandra Govoni · Roberto Del Bo · Patrizia Ciscato · Marco Savarese · Claudia Cinnante · Maggie C. Walter · Angela Abicht · Stefanie Bulst · Stefania Corti · Maurizio Moggio · Nereo Bresolin · Vincenzo Nigro · Giacomo P. Comi · Giacomo P. Comi
NG.O.9 - Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy J. Domingues · P. Tavares · L. Souza · T. Rezende · R. Casseb · A. Martinez · L. Rittner · S. Appenzeller · A. Nucci · Marcondes C. França · Marcondes C. França
P.140 - Clinical and histopathological characterization of the first French case of MATR3-related distal myopathy M. James · A. Mayhew · D. Moat · M. Eagle · E. Maron · R. Gee · K. Rose · B. Drogo · B. Vandevelde · K. Foy · S. Thiele · M. Sanchez-Aguilera Praxedes · A. Canal · H. Yajima · M. Sanjak · E. Montiel-Morillo · L. Bello · L. Alfano · K. Bushby · V. Straub · V. Straub
Does the performance of upper limb capture functional variations in dysferlinopathy Kuberaka Mariampillai · B. Granger · Marguerite Guiguet · D. Amelin · Jean-Luc Charuel · Lucile Musset · Y. Allenbach · O. Benveniste · O. Benveniste
P.422 - Development of a specific home based assessment tool for monitoring fluctuations in physical function and muscle performance in adult and paediatric myasthenia patients Kevin J. Felice · Charles H. Whitaker · Qian Wu · Daniel T. Larose · Guo Shen · Allan L. Metzger · Randall W. Barton · Randall W. Barton
P.375 - Clinical studies of RG7916 in patients with spinal muscular atrophy: SUNFISH part 1 study update T. Murakami · K. Ishigai · K. Ishiguro · T. Sato · M. Shichiji · M. Ikeda · Satoru Nagata · T. Uchida · Satoshi Kuru · T. Nakayama · T. Nakayama
P.433 - Evaluation of skeletal muscle in patients with Fukuyama congenital muscular dystrophy (FCMD) using bioelectrical impedance analysis Ingrid E.C. Verhaart · Lenie van den Engel-Hoek · Marta L. Fiorotto · Mirjam Franken-Verbeek · Elizabeth Vroom · Elizabeth Vroom
P.312 - The contractile phenotype of a novel dystrophin-negative mouse strain with enhanced voluntary exercise capability Sonja Strang-Karlsson · K. Johnson · Ana Töpf · Liwen Xu · Liwen Xu · Monkol Lek · Monkol Lek · Daniel G. MacArthur · Daniel G. MacArthur · Olivera Casar-Borota · Olivera Casar-Borota · Maria Williams · Volker Straub · Carina Wallgren-Pettersson · Carina Wallgren-Pettersson
C9ORF72 and RAB7L1 regulate vesicle traffi cking in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Priscille Couture · Edoardo Malfatti · Geneviève Morau · Alexis Mathian · Fleur Cohen-Aubart · Hubert Nielly · Zahir Amoura · Patrick Cherin · Patrick Cherin
Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey Maite Calucho · Sara Bernal · Laura Alías · Francesca March · Adoración Venceslá · Francisco Javier Rodríguez-Álvarez · Elena Aller · Raquel M. Fernández · Salud Borrego · José M. Millán · Concepción Hernández-Chico · Ivón Cuscó · Pablo Fuentes-Prior · Eduardo F. Tizzano · Eduardo F. Tizzano
Genotype and other determinants of respiratory function in myotonic dystrophy type 1 Afagh Alavi · Sara Esmaeili · Shahriar Nafissi · Kimia Kahrizi · Hossein Najmabadi · Hossein Najmabadi
Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene Raquel Manzano · Yoshitsugu Aoki · Yi Lee · Ruxandra Dafinca · M. Aoki · Andrew G.L. Douglas · Miguel A. Varela · C. Sathyaprakash · Jakub Scaber · P. Barbagallo · Pieter Vader · Imre Mäger · Kariem Ezzat · Martin Turner · Naoki Ito · Samanta Gasco · Norihiko Ohbayashi · S. El Andaloussi · S. Taked · Mitsunori Fukuda · Kevin Talbot · Matthew J.A. Wood · Matthew J.A. Wood
A database for screening and registering late onset Pompe disease in Turkey A.C. Jimenez-Moreno · J. Raaphorst · H. Babacic · Libby Wood · B.G.M. van Engelen · Hanns Lochmueller · Benedikt Schoser · Stephan Wenninger · Stephan Wenninger
Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions Ghilas Boussaïd · Karim Wahbi · P. Laforêt · Bruno Eymard · Tanya Stojkovic · Anthony Behin · Annane Djillali · David Orlikowski · Hélène Prigent · Frédéric Lofaso · Frédéric Lofaso
P.126 - Spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations in children S. Serel Arslan · G. Aydın · I. Alemdaroglu · O. Yılmaz · A. Karaduman · A. Karaduman
MoveDMD: phase 2 trial of edasalonexent, an NF-κB inhibitor, in 4 to 7-year old patients with Duchenne muscular dystrophy P. Marti · N. Muelas · T. Jaijo · José M. Millán · I. Azorin · Juan J. Vílchez · Juan J. Vílchez
P.489 - Assessment of chewing function and investigation reliability of Karaduman chewing performance scale in pediatric neuromuscular diseases Marco Savarese · P.H. Jonson · Sanna Huovinen · Petri Auvinen · Peter Hackman · B. Udd · B. Udd
P.332 - Contribution of the NGS analysis to the hyperCKemia N. Danièle · C. Bogni · L. Julien · A. Piet · Alban Vignaud · Anna Buj-Bello · Anna Buj-Bello
P.475 - Alternative splicing in titin: new insights into exon usage Eugénie Ansseau · M. Sciot · C. Goudji · S. Castella · J. Larcher · Alexandra Belayew · Frédérique Coppée · Frédérique Coppée
P.261 - Antisense targeting of dynamin 2 by intramuscular delivery of vivo-morpholinos rescues the pathology in a murine model of myotubular myopathy V. Selby · Gita Ramdharry · M.G. Hanna · Francesco Muntoni · Francesco Muntoni
P.352 - Deregulation of IGF2BP1-mRNP components during the differentiation of FSHD muscle cells Pia R. Quitt · Marjo K. Hytönen · Kaspar Matiasek · Marco Rosati · Andrea Fischer · Hannes Lohi · Hannes Lohi
P.398 - Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkers C. Wingate · Gavin J. Pinniger · P. Arthur · Anthony J. Bakker · K. Nowak · K. Nowak
P.118 - Prospective cohort study of spinal muscular atrophy types 2 and 3 in Spanish population T. Gidaro · L. Servais · S. Previtali · A. Zambon · J. Pitchforth · K. Maresh · J. Diaz · C. Laveille · J. Gray · F. Porte-Thomé · H. Gheit · M. Annoussamy · V. Che · D. Duchene · M. Sora · S. Gerevini · N. Vidal · K. Groves · J. Brimble · F. Muntoni · F. Muntoni
P.110 - Long term follow-up of neuromuscular patients and family members submitted to psychoanalytical treatment J. Molenaar · J. Verhoeven · Nicol C. Voermans · J. Mathieu · Gaetano Vattemi · J. Franques · Thierry Kuntzer · L. Guyant-Marechal · S. Vicart · Anthony Behin · Corrie E. Erasmus · B. Brandom · E. Matthews · K. Suetterlin · B.G.M. van Engelen · D. Sternberg · Bruno Eymard · Bruno Eymard
P.381 - Nusinersen demonstrates greater efficacy in infants with shorter disease duration: End of study results from the ENDEAR study in infants with spinal muscular atrophy (SMA) Eugenio Mercuri · J. Kirschner · Giovanni Baranello · Laurent Servais · Nathalie Goemans · Maria Carmela Pera · A. Marquet · T. Seabrook · S. Sturm · G. Armstrong · H. Kletzl · C. Czech · D. Kraus · H. Abdallah · L. Mueller · K. Gorni · O. Khwaja · O. Khwaja
P.198 - Clinical epidemiology and multidimensional analysis of idiopathic inflammatory myopathies: to a classification based on myositis specific autoantibodies Jun Seok Park · Donghwi Park · J. Sohn · Jong-Yeon Shin · Jong-Yeon Shin
P.227 - The Brody disease cohort study: clarification of the phenotype Patrice Vidal · Giuseppe Ronzitti · Fanny Collaud · M. Simon Sola · P. Collela · F. Puzzo · H. Costa Verdera · Séverine Charles · A. Vignaud · L. Van Wittenberghe · Bernard Gjata · Monika Gjorgjieva · P. Laforêt · Fabienne Rajas · Edoardo Malfatti · Giacomo P. Comi · Federico Mingozzi · Federico Mingozzi
P.268 - Cardiac diastolic dysfunction correlates with the CTG trinucleotide repeat length in ambulatory myotonic dystrophy 1 C. Gitiaux · C. Latroche · M. Weiss-Gayet · M. Rodero · D. Duffy · B. Bader Meunier · C. Bodemer · G. Mouchiroud · J. Chelly · S. Germain · I. Desguerre · B. Chazaud · B. Chazaud
TH.O.18 - Adeno associated vector-based gene therapy strategy for type 3 glycogen storage disease B. De Paepe · Joachim Weis · J. De Bleecker · J. De Bleecker
P.197 - Myogenic progenitor cells exhibit IFN type I-driven pro-angiogenic properties and molecular signature during juvenile dermatomyositis E. Gayi · H.M. Ismail · B. Cowling · L. Neff · J. Laporte · Leonardo Scapozza · Olivier M. Dorchies · Olivier M. Dorchies
Osmolyte transporters of Betaine GABA (SLC6A12) and taurine (SLC5A3) are expressed in muscle-infiltrating mononuclear cells in inflammatory myopathies Josef Zamecnik · H. Storkanova · O. Krystufkova · M. Klein · H. Mann · L. Vernerova · M. Spiritovic · L. Senolt · Jiri Vencovsky · M. Tomcik · M. Tomcik
TH.O.19 - Tamoxifen increases survival, improves motor function and reduces levels of BIN1 and DNM2 in a mouse model of X-linked centronuclear (myotubular) myopathy Arthur H.M. Burghes · Vicki L. McGovern · C. Ruhno · Thomas W. Prior · P. Snyder · Jennifer Roggenbuck · V. Sansone · John T. Kissel · John T. Kissel
P.202 - Idiopathic inflammatory myopathies – increased expression of heat shock protein-90 in muscle tissue and plasma correlates with disease activity and skeletal muscle involvement J. Lehtonen · J. Laitila · Vilma-Lotta Lehtokari · Mikaela Grönholm · Carina Wallgren-Pettersson · Katarina Pelin · Katarina Pelin
P.133 - Identification of variants that affect severity of the spinal muscular atrophy phenotype within and outside of the SMN2 gene R. Propp · S. Weir · C. Encisa · A. Davis · Laura McAdam · N. Salbach · U. Narayanan · U. Narayanan
P.289 - Altered actin affinity – a possible disease-causing mechanism in NEB-related nemaline myopathy Jan Leo Rinnenthal · Carsten Dittmayer · Kerstin Irlbacher · K. Hahn · Irene Wacker · Werner Stenzel · Hans-Hilmar Goebel · Hans-Hilmar Goebel
Development and sensibility evaluation of the muscular dystrophy child health index of life with disabilities questionnaire Simone Spuler · Andreas Marg · J. Kieshauer · V. Schoewel · M. Vaegler · M. Vaegler
P.263 - Vacuolar necklace muscle fibers – a new variant? B. Fauroux · B. Fauroux
P.389 - Development of primary human satellite cells into an advanced therapeutic medicinal product (ATMP) P. Joshi · S. Zierz · S. Zierz
Respiratory insight to muscular dystrophy and relation in to clinical trials L. Servais · M. Farrar · Richard S. Finkel · Janbernd Kirschner · Francesco Muntoni · P. Sun · S. Gheuens · E. Schneider · Wildon Farwell · Wildon Farwell
P.361 - McArdle Disease: Clinical, biochemical and molecular genetic analysis of 58 patients D. Natera-de Benito · M. Alarcon · A. Borrás · J. Armas · A. Frongia · D. Itzep · M. Vigo · J. Medina · C. Ortez · J. Colomer · A. Nascimento · A. Nascimento
Trial readiness in children with mitochondrial disease: selection of outcome measures Veronica Pini · J. Counsell · H. O’Neill · Francesco Muntoni · Francesco J. Conti · Francesco J. Conti
Falls in the over 50s with CMT: implications for clinical management A.C. Jimenez-Moreno · S. Cassidy · Guy A. MacGowan · J.D. Parikh · R. McStay · Matt Bates · Michael I. Trenell · Hanns Lochmüller · Grainne S. Gorman · Grainne S. Gorman
Trk receptor signalling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations Saskia Koene · I. de Groot · M. de Vries · L. de Boer · M. Janssen · J.A.M. Smeitink · J.A.M. Smeitink
Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy Nathalie Goemans · M. Tulinius · Anna-Karin Kroksmark · Rosamund Wilson · Marleen van den Hauwe · G. Campion · G. Campion
Quantification of muscle pathology in infantile Pompe disease R. Tsabari · H. Daum · Eitan Kerem · Yakov Fellig · Talia Dor · Talia Dor
Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene Merete Holbeck-Brendel · Birgitte Klindt Poulsen · Birgitte Klindt Poulsen
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations Anne Schänzer · Ann-Kathrin Kaiser · Christian Mühlfeld · Martin Kulessa · Werner Paulus · Harald von Pein · Marianne Rohrbach · Lara Viergutz · Eugen Mengel · Thorsten Marquardt · Bernd A. Neubauer · Till Acker · Andreas Hahn · Andreas Hahn
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvements Ayse Ece Cali-Daylan · Pervin Dinçer · Pervin Dinçer
Longitudinal assessments in discordant twins with SMA Elizabeth Harris · Meriel McEntagart · Ana Töpf · Hanns Lochmüller · Kate Bushby · C. Sewry · Volker Straub · Volker Straub
Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy Goknur Haliloglu · A. Karaduman · Haluk Topaloglu · Haluk Topaloglu
Exome Sequencing Identifies Targets in the Treatment-Resistant Ophthalmoplegic Subphenotype of Myasthenia Gravis Marika Pane · Leonardo Lapenta · Emanuela Abiusi · Roberto De Sanctis · Marco Luigetti · Concetta Palermo · Domiziana Ranalli · Stefania Fiori · Francesco Danilo Tiziano · Eugenio Mercuri · Eugenio Mercuri
First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica Liang Wu · Bingwu Xiang · Huan Zhang · Xiaoxiao He · Celina Shih · Xiang Chen · Tao Cai · Tao Cai · Tao Cai
Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup Melissa Nel · Mahjoubeh Jalali Sefid Dashti · Junaid Gamieldien · Jeannine M. Heckmann · Jeannine M. Heckmann
Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy Gabriel Torrealba-Acosta · Gabriel Torrealba-Acosta · Gabriel Torrealba-Acosta · María Consuelo Rodríguez-Roblero · Sixto Bogantes-Ledezma · Sixto Bogantes-Ledezma · Kenneth Carazo-Céspedes · Claude Desnuelle · Claude Desnuelle
Memory B cell resurgence requires repeated rituximab in myasthenia gravis Masaaki Matsumoto · Hiroyuki Awano · Tomoko Lee · Yasuhiro Takeshima · Masafumi Matsuo · Kazumoto Iijima · Kazumoto Iijima
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from turkey with McArdle disease Manu Jokela · Sanna Huovinen · Johanna Palmio · A.M. Saukkonen · Sini Penttilä · Bjarne Udd · Bjarne Udd
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period Kohei Muto · Naoko Matsui · Yuki Unai · Waka Sakai · Shotaro Haji · Kengo Udaka · Hirokazu Miki · Takahiro Furukawa · Masahiro Abe · Ryuji Kaji · Ryuji Kaji
Evaluation of coexisting polymyositis in feline myasthenia gravis: a case series Güldal Inal-Gültekin · Bahar Toptaş-Hekimoğlu · Zeliha Gormez · Özlem Gelişin · Hacer Durmus · Bekir Ergüner · Hüseyin Demirci · Mahmut Şamil Sağıroğlu · Yesim Parman · Feza Deymeer · Hulya Yilmaz-Aydogan · Sadrettin Pençe · Can Ebru Bekircan-Kurt · Ersin Tan · Sevim Erdem-Ozdamar · Duran Ustek · Urs Giger · Oguz Ozturk · Piraye Serdaroglu-Oflazer · Piraye Serdaroglu-Oflazer
Acquired equine polyneuropathy of Nordic horses: A conspicuous inclusion body schwannopathy Maria Sframeli · Maria Sframeli · Anna Sarkozy · M. Bertoli · Guja Astrea · Judith N Hudson · M. Scoto · Rachael Mein · M. Yau · Rahul Phadke · L. Feng · C. Sewry · Adeline Ngoh Seow Fen · Cheryl Longman · Gary McCullagh · Volker Straub · S. Robb · Adnan Y. Manzur · Kate Bushby · Francesco Muntoni · Francesco Muntoni
Brain involvement in Charcot–Marie–Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation Vincent Mayousse · Vincent Mayousse · Aurélien Jeandel · Nicolas Blanchard-Gutton · Catherine Escriou · Kirsten Gnirs · G. Diane Shelton · Stéphane Blot · Stéphane Blot · Stéphane Blot
Associations between timing of corticosteroid treatment initiation and clinical outcomes in Duchenne muscular dystrophy S. Hanche-Olsen · Kaspar Matiasek · Jessica Molin · Marco Rosati · K. Hultin Jäderlund · G. Gröndahl · G. Gröndahl
Long-term follow-up of motor function and muscle strength in the congenital and childhood forms of myotonic dystrophy type 1 Fouad Al-Ghamdi · Irina Anselm · Edward Yang · Partha S. Ghosh · Partha S. Ghosh
Double-seropositive myasthenia gravis with acetylcholine receptor and low-density lipoprotein receptor-related protein 4 antibodies associated with invasive thymoma Sunkyung Kim · Yong Zhu · Paul A. Romitti · Deborah J. Fox · Daniel W. Sheehan · Rodolfo Valdez · Dennis J. Matthews · Brent J. Barber · Brent J. Barber
Treatment with enzyme replacement therapy during pregnancy in a patient with Pompe disease Jacqueline Montes · Sally Dunaway Young · E. Mazzone · M. Main · Bart Bartels · Matthew Civitello · Giorgia Coratti · Tina Duong · T Estilow · Richard Gee · Allan M. Glanzman · Janis Kitsuwa-Lowe · Anna Mayhew · Elizabeth Mirek · Robert Muni Lofra · Shree Pandya · Amy Pasternak · Danielle Ramsey · Rachel Salazar · Jenna Turner · Julie Wells · Julie Wells
Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy Maria Carmela Pera · Marco Luigetti · Marika Pane · Giorgia Coratti · Nicola Forcina · Lavinia Fanelli · E. Mazzone · Laura Antonaci · Leonardo Lapenta · Concetta Palermo · Domiziana Ranalli · Giuseppe Granata · Mauro LoMonaco · Serenella Servidei · Eugenio Mercuri · Eugenio Mercuri
First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy T. Lencioni · Giuseppe Piscosquito · M. Rabuffetti · G. Bovi · Enrica Di Sipio · Manuela Diverio · Isabella Moroni · Luca Padua · E Pagliano · Angelo Schenone · Davide Pareyson · M. Ferrarin · M. Ferrarin
Neuromuscular politics: The creation of RehabiliteringsCenter for Muskelsvind (The National Rehabilitation Centre for Neuromuscular Diseases) Toshio Saito · Mitsuru Kawai · En Kimura · Katsuhisa Ogata · Toshiaki Takahashi · Michio Kobayashi · Hiroto Takada · Satoshi Kuru · Takashi Mikata · Tsuyoshi Matsumura · Naohiro Yonemoto · Harutoshi Fujimura · Saburo Sakoda · Saburo Sakoda
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement Bülent Kara · Hülya Maraş Genç · Emek Uyur-Yalçın · Ayfer Sakarya-Güneş · Uğur Topçu · Serap Mulayim · Serdar Ceylaner · Serdar Ceylaner
Granuloma formation in a patient with GNE myopathy: A case report Lei Liu · Xiaobo Li · Zhengmao Hu · Xiao Mao · Xiaohong Zi · Kun Xia · Beisha Tang · Ruxu Zhang · Ruxu Zhang
Sleep, lung function, and quality of life in patients with myasthenia gravis: A cross-sectional study Ana Fernández-Marmiesse · M. Carmen Carrascosa-Romero · Blanca Alfaro Ponce · A. Nascimento · C. Ortez · Norma B. Romero · Lourdes Palacios · C. Jimenez-Mallebrera · C. Jimenez-Mallebrera · C. Jou · C. Jou · Sofía Gouveia · María L. Couce · María L. Couce
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene Keiko Nakamura · Tsuyoshi Hamaguchi · Kenji Sakai · Daisuke Noto · Kenjiro Ono · Kenjiro Ono · Yukiko K. Hayashi · Ichizo Nishino · Masahito Yamada · Masahito Yamada
Reduced renal function in patients with Myotonic Dystrophy type 1 and the association to CTG expansion and other potential risk factors for chronic kidney disease Alexander M. Rossor · Jasper M. Morrow · James M. Polke · S. Murphy · S. Murphy · Henry Houlden · M Laura · Hadi Manji · Julian Blake · Julian Blake · Mary M. Reilly · Mary M. Reilly
Body composition and clinical outcome measures in patients with myotonic dystrophy type 1 Donghwi Park · Sang-Hoon Lee · Jin-Hong Shin · Jin-Sung Park · Jin-Sung Park
Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan Annika Aldenbratt · Christopher Lindberg · M. K. Svensson · M. K. Svensson
Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome Saam Sedehizadeh · J. David Brook · Paul Maddison · Paul Maddison
Welcome to the World Muscle Society Congress in Saint Malo Seena Vengalil · Veeramani Preethish-Kumar · Kiran Polavarapu · Rita Christopher · Narayanappa Gayathri · Archana Natarajan · Mahadevappa Manjunath · Saraswati Nashi · Chandrajit Prasad · Atchayaram Nalini · Atchayaram Nalini
6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction M. Reza · Daniel Cox · L. Phillips · Diana Johnson · Vaishnavi Manoharan · Michael Grieves · Becky Davis · Andreas Roos · Jennifer E. Morgan · Michael G. Hanna · Francesco Muntoni · Hanns Lochmüller · Hanns Lochmüller
Childhood onset-form of myotonic dystrophy type 1 and autism spectrum disorders: is there comorbidity? Jørgen Jeppesen · Jørgen Jeppesen
Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials Gisèle Bonne · Thomas Voit · Thomas Voit
A novel mutation in FGD4 causes Charcot–Marie–Tooth disease type 4H with cranial nerve involvement Nathalie Angeard · E. Huerta · A. Jacquette · David Cohen · J. Xavier · Marcela Gargiulo · L. Servais · Bruno Eymard · D. Héron · D. Héron
Analysis of TNF-related apoptosis-inducing ligand and receptors and implications in thymus biology and myasthenia gravis Jacob J. Gissy · Teresa R. Johnson · Deborah J. Fox · Anil Kumar · Emma Ciafaloni · Anthonie J. van Essen · Holly Peay · Ann Martin · Ann Lucas · Richard S. Finkel · Richard S. Finkel · Richard S. Finkel
DMD and West syndrome Daisuke Kondo · Koji Shinoda · Ken Ichiro Yamashita · Ryo Yamasaki · Akihiro Hashiguchi · Hiroshi Takashima · Jun-ichi Kira · Jun-ichi Kira
The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure Irem Kanatli · Bahar Akkaya · Hilmi Uysal · Sevim Kahraman · Ahter Dilsad Sanlioglu · Ahter Dilsad Sanlioglu
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide Ruxandra Cardas · Catrinel Iliescu · Nina Butoianu · A. Seferian · Svetlana Gataullina · Elena Gargaun · Juliette Nectoux · Thierry Bienvenu · Dana Craiu · Teresa Gidaro · Laurent Servais · Laurent Servais
Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects Valeria Sansone · Andrea Lizio · Lucia Greco · Gaia Gragnano · A. Zanolini · Marco Gualandris · Marino Iatomasi · Chad Heatwole · Chad Heatwole
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study Anna-Karin Kroksmark · Marie-Louise Stridh · Anne-Berit Ekström · Anne-Berit Ekström
Rare diagnosis of telethoninopathy (LGMD2G) in a turkish patient Hidehiro Ishikawa · Akira Taniguchi · Yuichiro · Osamu Higuchi · Hidenori Matsuo · Shunya Nakane · Masaru Asahi · Atsushi Niwa · Hidekazu Tomimoto · Hidekazu Tomimoto
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients Gulcin Akinci · Haluk Topaloglu · Tevfik Demir · Ayca Ersen Danyeli · Beril Talim · Fatma Ela Keskin · Pinar Kadioglu · Enez Talip · Canan Altay · Guzin Fidan Yaylali · Habib Bilen · Banu Güzel Nur · Leyla Demir · Huseyin Onay · Baris Akinci · Baris Akinci
Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study Marcin Bednarz · Bas C. Stunnenberg · Benno Küsters · Benno Küsters · Erik-Jan Kamsteeg · Christiaan G.J. Saris · James R. Groome · Vern Winston · Giovanni Meola · Karin Jurkat-Rott · Nicol C. Voermans · Nicol C. Voermans
Transient neonatal myasthenia gravis due to a mother with ocular onset of anti-muscle specific kinase myasthenia gravis Jun Fu · Shixu Dai · Yuanyuan Lu · Rui Wu · Zhaoxia Wang · Yun Yuan · He Lv · He Lv
Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions Alon Abraham · Charles Kassardjian · Hans D. Katzberg · Vera Bril · Ari Breiner · Ari Breiner
HLA and age of onset in myasthenia gravis Ju-Yeun Lee · Ju-Hong Min · Sueng-Han Han · Jinu Han · Jinu Han
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy Eri Takeshita · Narihiro Minami · Kumiko Minami · Mikiya Suzuki · Takeya Awashima · Akihiko Ishiyama · Hirofumi Komaki · Ichizo Nishino · Masayuki Sasaki · Masayuki Sasaki
Novel truncating variant in DNA2-related congenital onset myopathy and ptosis suggests genotype-phenotype correlation Ernestina Santos · Andreia Bettencourt · Ana Martins da Silva · Daniela Boleixa · Dina Lopes · Sandra Brás · Paulo Pinho e Costa · Paulo Pinho e Costa · Carlos Lopes · Guilherme Gonçalves · M I Leite · Berta Martins da Silva · Berta Martins da Silva
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy P. Phowthongkum · A. Sun · A. Sun
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype Erik Landfeldt · Peter Lindgren · M. Guglieri · Volker Straub · Hanns Lochmüller · K. Bushby · K. Bushby
Decreased cerebral perfusion in Duchenne muscular dystrophy patients Barbara Joureau · Josine M. de Winter · Kelly Stam · Henk Granzier · Coen A.C. Ottenheijm · Coen A.C. Ottenheijm · Coen A.C. Ottenheijm
Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC Andrea Cortese · Giovanni Piccolo · A. Lozza · A. Schreiber · I. Callegari · Arrigo Moglia · E. Alfonsi · Davide Pareyson · Davide Pareyson
Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot–Marie–Tooth disease type 2K R. Kennedy · R. Kennedy · Kate Carroll · Kade L. Paterson · Monique M. Ryan · Monique M. Ryan · Jennifer L. McGinley · Jennifer L. McGinley
Successful autologous haematopoietic stem cell transplantation for refractory myasthenia gravis - a case report Marie-Elodie Cattin · Arnaud Ferry · Arnaud Ferry · Alban Vignaud · Nathalie Mougenot · Adeline Jacquet · K. Wahbi · K. Wahbi · Anne Bertrand · Gisèle Bonne · Gisèle Bonne
Men with Duchenne muscular dystrophy and end of life planning Fleur J.A. van den Bogaart · Kristl G. Claeys · Kristl G. Claeys · Rudolf A. Kley · Benno Küsters · Simone Schrading · Erik Jan Kamsteeg · Nicol C. Voermans · Nicol C. Voermans
Utility of skinfold thickness measurement in non-ambulatory patients with Duchenne muscular dystrophy Irene Håkansson · Anna Sandstedt · Fredrik Lundin · Håkan Askmark · Ritva Pirskanen · Kristina Carlson · Fredrik Piehl · Hans Hägglund · Hans Hägglund
Confirmation of the GNB4 gene as causal for Charcot–Marie–Tooth disease by a novel de novo mutation in a Czech patient David Abbott · Helen Prescott · Karen Forbes · James Fraser · A. Majumdar · A. Majumdar
The gross motor function measure is valid for Fukuyama congenital muscular dystrophy Gianina Ravenscroft · Nataliya Di Donato · Mark R. Davis · Paul Craven · G. Poke · Katherine R. Neas · Teresa Neuhann · William B. Dobyns · Nigel G. Laing · Nigel G. Laing
Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy Catherine Ashton · Reimar Junckerstorff · Reimar Junckerstorff · Chris Bundell · Peter Hollingsworth · Merrilee Needham · Merrilee Needham
Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials J. Domingos · Michelle Eagle · A. Moraux · J.W. Butler · Valérie Decostre · Deborah Ridout · Anna Mayhew · V. Selby · M. Guglieri · M. Van der Holst · Merel Jansen · J. Verschuuren · I. de Groot · Erik H. Niks · L. Servais · J.Y. Hogrel · Volker Straub · Thomas Voit · Valeria Ricotti · Francesco Muntoni · Francesco Muntoni
Developing digital tools for improving patient and family engagement in paediatric clinical research M. Jokela · Pirjo Isohanni · Sini Penttilä · Bjarne Udd · Bjarne Udd
Selective or predominant triceps muscle weakness in African–American patients with myasthenia gravis Karlien Mul · June Kinoshita · Hugh Dawkins · Baziel G.M. van Engelen · Rossella Tupler · Rossella Tupler
225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands Serena Caggiano · Serena Caggiano · Sonia Khirani · Ivana Dabaj · Eliana Cavassa · Alessandro Amaddeo · Alessandro Amaddeo · Alessandro Amaddeo · Jorge Olmo Arroyo · Isabelle Desguerre · Isabelle Desguerre · Pascale Richard · Renato Cutrera · Ana Ferreiro · Brigitte Estournet · Susana Quijano-Roy · Brigitte Fauroux · Brigitte Fauroux · Brigitte Fauroux · Brigitte Fauroux
John McCormack Howell (1932–2017) Elena Ikenberg · Ivan Karin · Birgit Ertl-Wagner · Angela Abicht · Stefanie Bulst · Sabine Krause · Benedikt Schoser · Peter Reilich · Maggie C. Walter · Maggie C. Walter
A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender Carola Hedberg-Oldfors · Niklas Darin · Anders Oldfors · Anders Oldfors
Reliability and validity analyses of the North Star Ambulatory Assessment in Brazilian Portuguese Osorio Abath Neto · Osorio Abath Neto · Osorio Abath Neto · Cristiane de Araújo Martins Moreno · Edoardo Malfatti · Sandra Donkervoort · Johann Böhm · júlio Brandão Guimarães · A. Reghan Foley · Payam Mohassel · J. Dastgir · Diana Bharucha-Goebel · Soledad Monges · Fabiana Lubieniecki · James J. Collins · L. Medne · Mariarita Santi · Sabrina W. Yum · Brenda Banwell · Emmanuelle Salort-Campana · John Rendu · Julien Fauré · Uluç Yiş · Bruno Eymard · Chrystel Cheraud · Raphaël Schneider · Raphaël Schneider · Julie D. Thompson · Xavière Lornage · Lilia Mesrob · Doris Lechner · Anne Boland · Jean-François Deleuze · Umbertina Conti Reed · Acary Souza Bulle Oliveira · Valérie Biancalana · Norma B. Romero · Carsten G. Bönnemann · Jocelyn Laporte · Edmar Zanoteli · Edmar Zanoteli
Spinal muscular atrophy: a changing phenotype beyond the clinical trials Byron Kakulas · R. Quinlivan · R. Quinlivan
Morbidity due to Osteoporosis in DMD: The Path Forward Proceedings of a Parent Project Muscular Dystrophy Bone Health Workshop May 12-13, 2016, Bethesda, Maryland, USA Eduardo F. Tizzano · Richard S. Finkel · Richard S. Finkel
Dramatic elevation in urinary amino terminal titin fragment excretion quantified by immunoassay in Duchenne muscular dystrophy patients and in dystrophin deficient rodents Macarena Cabrera-Serrano · Macarena Cabrera-Serrano · Reimar Junckerstorff · Reimar Junckerstorff · Ali Alisheri · Alan Pestronk · Nigel G. Laing · Conrad C. Weihl · Phillipa Lamont · Phillipa Lamont · Phillipa Lamont
Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy Leanne Ward · Kathi Kinnett · Lynda F. Bonewald · Lynda F. Bonewald
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male Alan S. Robertson · Mark J. Majchrzak · Courtney M. Smith · Robert Gagnon · Nino Devidze · Glen B. Banks · Sean C. Little · Fizal Nabbie · Denise I. Bounous · Janet DiPiero · Leslie K. Jacobsen · Linda J. Bristow · Michael K. Ahlijanian · Stephen A. Stimpson · Stephen A. Stimpson
Muscle pathology in Vici syndrome–A case study with a novel mutation in EPG5 and a summary of the literature André Macedo Serafim da Silva · Rodrigo Mendonça · Cristiane de Araújo Martins Moreno · Eduardo de Paula Estephan · Paulo Victor Partezani Helito · Mary S. Carvalho · Edmar Zanoteli · Edmar Zanoteli
Monoclonal gammopathy with both nemaline myopathy and amyloid myopathy Carola Hedberg-Oldfors · Kittichate Visuttijai · Alexandra Topa · Mar Tulinius · Anders Oldfors · Anders Oldfors
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains Min Wang · Lin Lei · Hai Chen · Li Di · Mi Pang · Yan Lu · Lu Lu · Xin-Ming Shen · Yuwei Da · Yuwei Da
Deterioration in gait and functional ambulation in children and adolescents with Charcot–Marie–Tooth disease over 12 months Jean-Michel Vallat · Nobuhiro Yuki · Kenji Sekiguchi · Norito Kokubun · Nobuyuki Oka · Stéphane Mathis · Laurent Magy · Diane L. Sherman · Peter J. Brophy · Jérôme Devaux · Jérôme Devaux
Expanding the phenotypic spectrum associated with mutations of DYNC1H1 Kateri Raymond · Mélanie Levasseur · Jean Mathieu · Johanne Desrosiers · Cynthia Gagnon · Cynthia Gagnon
Misdiagnosis is an important factor for diagnostic delay in McArdle disease Elizabeth Harris · Umar Burki · Chiara Marini-Bettolo · Marcella Neri · C. Scotton · Judith N Hudson · M. Bertoli · Teresinha Evangelista · Bas Vroling · Tuomo Polvikoski · Mark Roberts · Ana Töpf · Kate Bushby · Daniel McArthur · Hanns Lochmüller · Alessandra Ferlini · Volker Straub · Rita Barresi · Rita Barresi
Autosomal dominant distal myopathy due to a novel ACTA1 mutation Sarah J. Beecroft · Catriona McLean · Martin B. Delatycki · Kurian Koshy · Eppie M. Yiu · G. Haliloglu · Diclehan Orhan · Phillipa Lamont · Mark R. Davis · Nigel G. Laing · Gianina Ravenscroft · Gianina Ravenscroft
Deletion of p2 promoter of GJB1 gene a cause of charcot-marie-tooth disease R. Scalco · R. Scalco · Jasper M. Morrow · S. Booth · S. Chatfield · R. Godfrey · R. Godfrey · R. Quinlivan · R. Quinlivan · R. Quinlivan
Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy Teerin Liewluck · Eric J. Sorenson · Magdalena Walkiewicz · Kandelaria M. Rumilla · Margherita Milone · Margherita Milone
Calpainopathy with macrophage-rich, regional inflammatory infiltrates R. Kulshrestha · S. Burton-Jones · Thalia Antoniadi · Mark T. Rogers · Zane Jaunmuktane · Sebastian Brandner · N. Kiely · R. Manuel · T. Willis · T. Willis
Paranodal lesions in chronic inflammatory demyelinating polyneuropathy associated with anti-Neurofascin 155 antibodies Ami Mankodi · Noura Azzabou · Thomas C. Bulea · Harmen Reyngoudt · Hirity Shimellis · Yupeng Ren · Eunhee Kim · Kenneth H. Fischbeck · Pierre G. Carlier · Pierre G. Carlier
Diaphragmatic dysfunction in SEPN1-related myopathy Peter W. Schutz · R. Scalco · Rita Barresi · Rita Barresi · Henry Houlden · Matthew Parton · Janice L. Holton · Janice L. Holton
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot–Marie–Tooth disease type 2 patients Alan E.H. Emery · Marcia Emery · Michael Swash · Michael Swash · Jacqueline Mikol · Olivier Walusinski · Hans H. Goebel · Hans H. Goebel
Cystinosis distal myopathy, novel clinical, pathological and genetic features Larissa O. Okama · Lívia M. Zampieri · Carina L. Ramos · Flávia O. Toledo · C. R. J. Alves · Ana Claudia Mattiello-Sverzut · A. Mayhew · Claudia Sobreira · Claudia Sobreira
20th Anniversary Meeting of the Meryon Society Worcester College, Oxford Anna Ardissone · Valeria Sansone · L. Colleoni · Pia Bernasconi · Isabella Moroni · Isabella Moroni
Anatomical and mesoscopic characterization of the dystrophic diaphragm: An in vivo nuclear magnetic resonance imaging study in the Golden retriever muscular dystrophy dog Michelangelo Mancuso · Daniele Orsucci · Corrado Angelini · Enrico Bertini · Claudio Bruno · Valerio Carelli · Giacomo P. Comi · Massimiliano Filosto · Costanza Lamperti · M. Moggio · T. Mongini · Isabella Moroni · Paola Tonin · Antonio Toscano · Gabriele Siciliano · Gabriele Siciliano
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods Iulia Munteanu · Hannu Kalimo · Antti Saraste · Ichizo Nishino · Berge A. Minassian · Berge A. Minassian
212th ENMC International Workshop Jean‐Baptiste Noury · Johann Böhm · Georges Arielle Peche · Lucie Guyant-Maréchal · Anne-Laure Bedat-Millet · Léa Chiche · Robert-Yves Carlier · Edoardo Malfatti · Norma B. Romero · Tanya Stojkovic · Tanya Stojkovic
Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA Sandra Donkervoort · Sophelia Chan · Leslie H. Hayes · Leslie H. Hayes · Nathaniel Bradley · David Nguyen · M. Leach · Payam Mohassel · Ying Hu · Mathula Thangarajh · Diana Bharucha-Goebel · Amanda Kan · Ronnie Siu-lun Ho · Christine A. Reyes · Jessica R. Nance · Steven A. Moore · A. Reghan Foley · Carsten G. Bönnemann · Carsten G. Bönnemann
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation M. Saunier · Carsten G. Bönnemann · Madeleine Durbeej · V. Allamand · Valérie Allamand · Paolo Bonaldo · Carsten G. Bönnemann · Susan C. Brown · Dean J. Burkin · Kevin P. Campbell · Madeleine Durbeej-Hjalt · Mahasweta Girgenrath · Yoram Nevo · Markus A. Rüegg · Margot Saunier · Tatsushi Toda · Raffaella Willmann · Raffaella Willmann
Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy Eric P. Hoffman · Carsten G. Bönnemann · Marc Boutin · Bernard Brais · Filippo Buccella · Arthur H.M. Burghes · Christopher S. Coffey · Nabarun Dasgupta · Hugh Dawkins · Annamaria De Luca · Christopher Dowd · Tina Duong · Michelle Eagle · Richard S. Finkel · Pat Furlong · Cynthia Gagnon · Nathalie Goemans · M. Guglieri · Yetrib Hathout · Nicholas E. Johnson · Emil D. Kakkis · Petra Kaufmann · Jonathan Kimmelman · Lawrence Korngut · Joyce Kullman · Hanns Lochmüller · Craig M. McDonald · Charles Mohan · Lauren P. Morgenroth · Hiroki Morizono · Kanneboyina Nagaraju · John D. Porter · Lori Reilly · Markus A. Rüegg · Joel Schneider · Pietro Spitali · Volker Straub · Lee Sweeney · Giorgio A. Tasca · C. Turner · O. Veldhuizen · Jan J. Verschuuren · S. Ward · Raffaella Willmann · Raffaella Willmann
Corrigendum toCategorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy[Neuromuscular Disorders 26/9 (2016) 576–583] Maisoon Alhamidi · Maisoon Alhamidi · Vigdis Brox · Vigdis Brox · Eva Stensland · Merete Liset · Sigurd Lindal · Sigurd Lindal · Øivind Nilssen · Øivind Nilssen · Øivind Nilssen
Corrigendum toChallenges in pediatric chronic inflammatory demyelinating polyneuropathy[Neuromuscular Disorders 26/12 (2016) 817–824] Mari Auranen · Anders Paetau · Päivi Piirilä · A. Pohju · Tapani Salmi · Antti Lamminen · Mervi Löfberg · S. Mosegaard · Rikke K.J. Olsen · Tiina Tyni · Tiina Tyni · Tiina Tyni
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome Eugenio Mercuri · James Signorovitch · Elyse Swallow · Jinlin Song · S. Ward · S. Ward
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France Goknur Haliloglu · Deniz Yüksel · Cağri Mesut Temoçin · Haluk Topaloglu · Haluk Topaloglu
Non-uniform muscle fat replacement along the proximodistal axis in Duchenne muscular dystrophy Sushan Luo · Shuang Cai · Susan Maxwell · Dongyue Yue · Wenhua Zhu · Kai Qiao · Zhen Zhu · Lei Zhou · Jianying Xi · Jiahong Lu · David Beeson · Chongbo Zhao · Chongbo Zhao
Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China Justine Marsolier · P. Laforêt · Elena Pegoraro · John Vissing · I. Richard · I. Richard
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency M.T. Hooijmans · Erik H. Niks · J. Burakiewicz · C. Anastasopoulos · C. Anastasopoulos · S.I. van den Berg · E.W. van Zwet · Andrew G. Webb · J. Verschuuren · Hermien E. Kan · Hermien E. Kan
Pharmacological therapy for the prevention and management of cardiomyopathy in Duchenne muscular dystrophy: A systematic review Dan-Ni Wang · Zhi-Qiang Wang · Lei Yan · Min-Ting Lin · Wan-Jin Chen · Ning Wang · Ning Wang
Distal myopathy with ADSSL1 mutations in Korean patients Soledad Levano · Asensio Gonzalez · Martine Singer · Philippe Demougin · Henrik Rüffert · Albert Urwyler · Thierry Girard · Thierry Girard
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency Basmah El-Aloul · Luis A. Altamirano-Diaz · Eugenio Zapata-Aldana · Eugenio Zapata-Aldana · Rebecca Rodrigues · Monali S. Malvankar-Mehta · Cam-Tu Nguyen · Cam-Tu Nguyen · Craig Campbell · Craig Campbell · Craig Campbell
Matching pairs difficulty in children with spinal muscular atrophy type I Hyung Jun Park · Hyung Jun Park · Ha Young Shin · Sungjun Kim · Se Hoon Kim · Yunbeom Lee · Jung Hwan Lee · Ji-Man Hong · Seung Min Kim · Kee Duk Park · Byung-Ok Choi · Ji Hyun Lee · Young-Chul Choi · Young-Chul Choi
The 100-meter timed test: Normative data in healthy males and comparative pilot outcome data for use in Duchenne muscular dystrophy clinical trials Bertold Schrank · Benedikt Schoser · Thomas Klopstock · Thomas Klopstock · Peter Schneiderat · Rita Horvath · Angela Abicht · Elke Holinski-Feder · Sarunas Augustis · Sarunas Augustis
Spinal muscular atrophy type Evald Krog: Assessing a Danish diagnosis Graziela Jorge Polido · Alessandra Ferreira Barbosa · Carlos Hitoshi Morimoto · Fátima Aparecida Caromano · Francis Meire Fávero · Edmar Zanoteli · Umbertina Conti Reed · Mariana Callil Voos · Mariana Callil Voos
Corrigendum toResponse to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both[Neuromuscular Disorders 26/8 (2016) 549] L.N. Alfano · Natalie Miller · Katherine Berry · Han Yin · Kimberly E. Rolf · Kevin M. Flanigan · Kevin M. Flanigan · Jerry R. Mendell · Jerry R. Mendell · Linda P. Lowes · Linda P. Lowes · Linda P. Lowes
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation Jung Hwan Lee · Jin Hong Shin · Hyung Jun Park · Sook Za Kim · Young Mi Jeon · Hye Kyoung Kim · Dae Seong Kim · Young Chul Choi · Young Chul Choi
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy Annalisa Sechi · Desy Salvadego · Alessandro Da Ponte · Nicole Bertin · Andrea Dardis · Silvia Cattarossi · Grazia Devigili · Federico Reccardini · Bruno Bembi · Bruno Grassi · Bruno Grassi
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population G. Tasca · Mauro Monforte · Claudia Nesti · Filippo M. Santorelli · Gabriella Silvestri · Enzo Ricci · Enzo Ricci
Age-related and mutation-independent proteomic changes in dystrophic mouse muscle V. Selby · Gita Ramdharry · J.Y. Hogrel · E. Milev · M.G. Hanna · Francesco Muntoni · Francesco Muntoni
A semi-automated image processing method for quantify dystrophin coverage at the sarcolemma membrane of each individual muscle fibre James N. Sleigh · John M. Dawes · Steven West · N. Wei · Emily L. Spaulding · Adriana Gomez-Martin · Q. Zhang · Robert W. Burgess · M. Zameel Cader · Kevin Talbot · X.-L. Yang · David L. H. Bennett · Giampietro Schiavo · Giampietro Schiavo
FUNCTIONAL VALIDATION OF NON-CODING VARIANTS OF GJB1 IN PATIENTS WITH CMTX1 H.E. Steele · I. Emmerson · Boglarka Bansagi · J. Frith · Rita Horvath · Rita Horvath
Reduced Hedgehog signalling in Duchenne muscular dystrophy impairs muscle regeneration and function Valentina Sardone · A. Jones · Matthew J. Ellis · Silvia Torelli · L. Feng · D. Chambers · R. Phadke · C. Sewry · J.E. Morgan · F. Muntoni · F. Muntoni
Hereditory Sensory Neuropathy Type 1 ( SPTLC1 ): phenotypic variation in patients with the English founder mutation Andrea Cortese · A. Manole · B. Ashokkumar · R. Simone · P.J. Tomaselli · Alexander M. Rossor · M Laura · M. Skorupinska · James M. Polke · R. Poh · Henry Houlden · Mary M. Reilly · Mary M. Reilly
Development of a validated Western blot method for quantification of human dystrophin protein used in phase 2 and 3 clinical trials of eteplirsen for the treatment of Duchenne muscular dystrophy S. Devenport · C.M. Penton · N. Salgado · H. Wang · K. Flanigan · Paul M. L. Janssen · F. Montanaro · F. Montanaro
Understanding carer resilience in Duchenne muscular dystrophy U. Kugathasan · M Laura · P.J. Tomaselli · M.R.B. Evans · A. Pittmann · C.J.D. Sinclair · T. Hornemann · S. Suriyanarayanan · Rahul Phadke · Giuseppe Lauria · R. Lombardi · James M. Polke · D.L. Bennett · Henry Houlden · Julian Blake · Mary M. Reilly · Mary M. Reilly
Comparison of ambulatory capacity and disease progression of Duchenne muscular dystrophy subjects enrolled in the drisapersen DMD114673 study with a matched natural history cohort of subjects on daily corticosteroids Alexander F. Lipka · Charlotte Vrinten · Charlotte Vrinten · Erik W. van Zwet · Kirsten J.M. Schimmel · Martina C. Cornel · Marja R. Kuijpers · Y. A. Hekster · Stephanie S Weinreich · Jan J. Verschuuren · Jan J. Verschuuren
The power of genetic modifiers in spinal muscular atrophy S. Glover · J. Hendron · B. Taylor · B. Taylor
Microvascular defects secondary to SMN deficiency in spinal muscular atrophy B. Wirth · B. Wirth
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease Dagur Ingi Jonsson · Ritva Pirskanen · Ritva Pirskanen · Fredrik Piehl · Fredrik Piehl · Fredrik Piehl
Defects in mitochondrial DNA (mtDNA) replication cause mtDNA depletion, increased mtDNA turnover and increased mitophagy T.L.E. van Westering · H. Johansson · Anna M.L. Coenen-Stass · Jun Tanihata · Shin Takeda · Toshifumi Yokota · Janne Lehtiö · Matthew J.A. Wood · S. El Andaloussi · Thomas C. Roberts · Yoshitsugu Aoki · Yoshitsugu Aoki
Magnetic resonance imaging (MRI) semi-quantitative scoring in a subset of 20 myotonic dystrophy Type 1 patients and correlation with functional outcome measures Haiyan Zhou · Y. Hong · M. Scoto · F. Catapano · S. Aguti · Simon H. Parson · P. Brogan · Francesco Muntoni · Francesco Muntoni
Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials T. Lodge · Chunyan Liao · Carl Fratter · J. Carver · Alan Diot · Eszter Dombi · K. Sergeant · Neil Ashley · S. Olpin · N. Hadjichristou · Karl Morten · Joanna Poulton · Joanna Poulton
Understanding the mechanisms contributing to Alpers neuropathology N. Nikolenko · F.R. Torron · A.C. Jimenez-Moreno · Libby Wood · A. Atalaia · K.G. Hollingsworth · Chris Turner · Hanns Lochmüller · Hanns Lochmüller
The TREAT-NMD Advisory Committee for Therapeutics (TACT): facilitating drug development in neuromuscular rare diseases Jordi Díaz-Manera · Roberto Fernández-Torrón · J. Llauger · M. James · A. Mayhew · Fiona E. Smith · Laura E. Rufibach · K. Bushby · Volker Straub · Volker Straub
Mitochondrial disorders due to tRNA(Pro) mutations M.-E. Anagnostou · Robert McFarland · Robert W. Taylor · Douglass M. Turnbull · N.Z. Lax · N.Z. Lax
Beneficial effect of tocilizumab in myasthenia gravis refractory to rituximab C. Turner · Volker Straub · K. Wagner · K. Wagner
Concentric muscle involvement in POLG-related distal myopathy Josef Finsterer · Sinda Zarrouk-Mahjoub · Sinda Zarrouk-Mahjoub
Neuromuscular disease case studies from Queen Square, Hadi Manji, Chris Turner, Matthew R.B. Evans, editors. Springer. 239 pp. £42, ISBN: 978-1447123880 Jørgen Jeppesen · Jørgen Jeppesen
Functional fatigue in a sample of the UK myasthenic population F.J. Schnell · C. Donoghue · J. Dworzak · J. Charleston · D. Frank · S.D. Wilton · S. Fletcher · Sarah Lewis · L. Rodino-Klapac · Zarife Sahenk · Zarife Sahenk
Congenital myopathy withcoronafibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A Tom Button · Tom Button
Intrafamilial phenotypic variability in Andersen–Tawil syndrome: A diagnostic challenge in a potentially treatable condition A Hiscock · Isla Kuhn · Stephen Barclay · Stephen Barclay
Myasthenia triggered by immune checkpoint inhibitors: New case and literature review Simone Gross · Andrea Fischer · Marco Rosati · Lara Matiasek · Daniele Corlazzoli · Rodolfo Cappello · Laura Porcarelli · Tom Harcourt-Brown · Konrad Jurina · Laurent Garosi · Thomas Flegel · Pia R. Quitt · Jessica Molin · Velia-Isabel Huelsmeyer · Henning Schenk · Gualtiero Gandini · Kirsten Gnirs · Stéphane Blot · Aurélien Jeandel · Massimo Baroni · Shenja Loderstedt · Gianluca Abbiati · Carola Leithaeuser · Sabine Schulze · Marion Kornberg · Mark Lowrie · Kaspar Matiasek · Kaspar Matiasek
Coming of age of the World Muscle Society Granada 2016 Alessandro Geroldi · Patrizia Lastella · Margherita Patruno · Fabio Gotta · Nicoletta Resta · Grazia Devigili · Carlo Sabbà · Rossella Gulli · Merit Lamp · Paola Origone · Paola Mandich · Emilia Bellone · Emilia Bellone
Blunted respiratory drive response in late onset Pompe disease Jane Miller · Susan C. Brown · Susan C. Brown
Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy W. Eilers · Adam J. R. Gadd · H. Foster · Alexander J. A. Cobb · Keith Foster · Keith Foster
Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation Takako I. Jones · Charis L. Himeda · Daniel P. Perez · Peter L. Jones · Peter L. Jones
220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27-29 May 2016 Didem Ardicli · Rahsan Gocmen · Beril Talim · Rosanne Sprute · Goknur Haliloglu · Sebahattin Cirak · Haluk Topaloglu · Haluk Topaloglu
Prevalence of myotonic dystrophy type 1 in adults in western Sweden Phú Lê Thành · Peter Meinke · Peter Meinke · Nadia Korfali · Vlastimil Srsen · Michael I. Robson · Manfred Wehnert · Benedikt Schoser · C. Sewry · Eric C. Schirmer · Eric C. Schirmer
Prognostic value of nocturnal hypoventilation in neuromuscular patients Susan C. Brown · Steve J. Winder · Neil Bevan · Lyndsey Bevan · Susan C. Brown · Hans van Bokhoven · Kevin P. Campbell · Sebahattin Cirak · Bulmaro Cisneros · Holly Colognato · Erhard Hohenester · Dirk J. Lefeber · Monika Liljedahl · Yung-Yao Lin · Qi Lu · Natalie Seta · Dirk J. Lefeber · Erherd Honenester · Volker Straub · Steve Winder · Steve Winder
Advance care discussions with young people affected by life-limiting neuromuscular diseases: A systematic literature review and narrative synthesis Roxanna Bendixen · Jocelyn Butrum · Mina S. Jain · Rebecca Parks · Bonnie Hodsdon · Carmel Nichols · Michelle Hsia · Leslie Nelson · K. Keller · M. McGuire · J. Elliott · Melody M. Linton · I. Arveson · Fatou Tounkara · R. Vasavada · Elizabeth Harnett · Monal Punjabi · Sandra Donkervoort · J. Dastgir · Meganne Leach · Anne Rutkowski · M. Waite · James J. Collins · Carsten G. Bönnemann · Katherine G. Meilleur · Katherine G. Meilleur
Ephedrine treatment for autoimmune myasthenia gravis Elena Campione · Annalisa Botta · Monia Di Prete · Emanuele Rastelli · Manuela Gibellini · Antonio Petrucci · Sergio Bernardini · Giuseppe Novelli · Luca Bianchi · Augusto Orlandi · Roberto Massa · Chiara Terracciano · Chiara Terracciano
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR J.L. Thibaud · B. Matot · Inès Barthélémy · Y. Fromes · Stéphane Blot · Pierre G. Carlier · Pierre G. Carlier
The yield of diagnostic work-up of patients presenting with myalgia, exercise intolerance, or fatigue: A prospective observational study Christopher Lindberg · Fredrik Bjerkne · Fredrik Bjerkne
The role of p62/SQSTM1 in sporadic inclusion body myositis David Orlikowski · Hélène Prigent · Maria-Antonia Quera Salva · Nicholas Heming · Cendrine Chaffaut · Sylvie Chevret · Djillali Annane · Frédéric Lofaso · Adam Ogna · Adam Ogna
Resistant myasthenia gravis and rituximab: A monocentric retrospective study of 28 patients M.G.E. te Riele · Tim H. A. Schreuder · N. van Alfen · M. Bergman · Sigrid Pillen · B.W. Smits · G.J. van der Wilt · H. Groenewoud · Nicol C. Voermans · B.G.M. van Engelen · B.G.M. van Engelen
Is one trial enough for repeated testing? Same-day assessments of walking, mobility and fine hand use in people with myotonic dystrophy type 1 Satoshi Nakano · Mitsuaki Oki · Hirofumi Kusaka · Hirofumi Kusaka
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy Vadim Afanasiev · Sophie Demeret · Francis Bolgert · Bruno Eymard · P. Laforêt · O. Benveniste · O. Benveniste
Cutaneous features of myotonic dystrophy types 1 and 2: implication of premature aging and vitamin d homeostasis Marie Kierkegaard · Marie Kierkegaard · Émilie Petitclerc · Luc J. Hébert · Cynthia Gagnon · Cynthia Gagnon
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance Nicol C. Voermans · N. Preisler · K. Madsen · M. Janssen · Benno Küsters · N. Abu Bakar · F. Conte · V.M.L. Lamberti · F. Nusman · B.G.M. van Engelen · M. van Scherpenzeel · John Vissing · Dirk J. Lefeber · Dirk J. Lefeber
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology Marco Marino · Olimpia Musumeci · Giuseppe Paleologo · Maria Cucinotta · Alba Migliorato · Carmelo Rodolico · Antonio Toscano · Antonio Toscano
PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose Tania García-Sobrino · Patricia Blanco-Arias · Francesc Palau · Carmen Espinós · Laura Ramirez · Anna Estela · Beatriz San Millán · Arias M · María-Jesús Sobrido · Julio Pardo · Julio Pardo
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene Kira Philipsen Prahm · Ulla Feldt-Rasmussen · John Vissing · John Vissing
Fist sign in inclusion body myositis Dante Brasil Santos · Dante Brasil Santos · Gilbert Desmarais · Line Falaize · Adam Ogna · Sandrine Cognet · Bruno Louis · David Orlikowski · Hélène Prigent · Frédéric Lofaso · Frédéric Lofaso
Seronegative myasthenia gravis associated with malignant thymoma Françoise Rouault · Vanessa Christie-Brown · Ria Broekgaarden · Nicole Gusset · Doug Henderson · Patryk Marczuk · Inge Schwersenz · Gil Bellis · Christian Cottet · Christian Cottet
Low bone mineral density and fractures are highly prevalent in pediatric patients with spinal muscular atrophy regardless of disease severity Renata Dal-Prá Ducci · Paulo José Lorenzoni · Cláudia Suemi Kamoi Kay · Lineu Cesar Werneck · Rosana Herminia Scola · Rosana Herminia Scola
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties Peter Hackman · Bjarne Udd · Carsten G. Bönnemann · Ana Ferreiro · Carsten G. Bönnemann · Alan H. Beggs · Mathias Gautel · Mark R. Davis · Teresinha Evangelista · Marco Savarese · Jelena Nikodinovic Glumac · Jocelyn Laporte · John E. Smith · Isabelle Richard · Henk Granzier · Raphaël Schneider · Heinz Jungbluth · Sarah Foye · Alison Rockett Frase · Alison Rockett Frase
Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients Deborah L. Stabley · Jennifer Holbrook · Ashlee W. Harris · Kathryn J. Swoboda · Thomas O. Crawford · Katia Sol-Church · Katia Sol-Church · Matthew E.R. Butchbach · Matthew E.R. Butchbach
Clinical follow-up of pregnancy in myasthenia gravis patients Hernan D. Gonorazky · Christian R. Marshall · Christian R. Marshall · Maryam Al-Murshed · Lili-Naz Hazrati · Michael G. Thor · Michael G. Hanna · Roope Männikkö · Peter N. Ray · Peter N. Ray · Grace Yoon · Grace Yoon
Experiences of being parents of young adults living with recessive limb-girdle muscular dystrophy from a salutogenic perspective Jason Richards · James F. Howard · James F. Howard
Association of early onset myasthenia gravis in Newfoundland dogs with the canine major histocompatibility complex class I Kirsten Scott · Kirsten Scott
Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy Zen Kobayashi · Emi Fukatsu · Sakiko Itaya · Miho Akaza · Kiyobumi Ota · Yoshiyuki Numasawa · Satoru Ishibashi · Hiroyuki Tomimitsu · Shuzo Shintani · Shuzo Shintani
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement Zena T. Wolf · Karen M. Vernau · Noa Safra · G. Diane Shelton · Jason King · Joseph R. Owen · Kalie Weich · Danika L. Bannasch · Danika L. Bannasch
Adult-onset Satoyoshi syndrome in a young male Ebtesam M. Abdalla · Gianina Ravenscroft · Louay Hassan Zayed · Sarah J. Beecroft · Nigel G. Laing · Nigel G. Laing
Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature Sara Missaglia · Lorenzo Maggi · Marina Mora · Sara Gibertini · Flavia Blasevich · Piergiuseppe Agostoni · Laura Moro · Denise Cassandrini · Filippo M. Santorelli · Simonetta Gerevini · Daniela Tavian · Daniela Tavian
219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016 Vinícius Viana Abreu Montanaro · Thiago Falcão Hora · Christian Marques Couto · Flavio Diniz Ribas · Flavio Diniz Ribas
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease Alberto Andrea Zambon · Maria Grazia Natali Sora · Giovanna Cantarella · Federica Cerri · Angelo Quattrini · Giancarlo Comi · Stefano C. Previtali · Alessandra Bolino · Alessandra Bolino
Twitch mouth pressure for detecting respiratory muscle weakness in suspicion of neuromuscular disorder Halley Wasserman · Lindsey Hornung · Peggy Stenger · Meilan M. Rutter · Brenda Wong · I. Rybalsky · Jane Khoury · Heidi J. Kalkwarf · Heidi J. Kalkwarf
Screening for LRP4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis Isabell Cordts · Nicolas Bodart · Kathi Hartmann · Lin Mei · Jens Reimann · Michael Rivner · Alain Vigneron · Joachim Weis · Jörg B. Schulz · Socrates J. Tzartos · Kristl G. Claeys · Kristl G. Claeys
The relationship between postural alignment and physical performance in boys with Duchenne muscular dystrophy S. Bozgeyik · A. Karaduman · O. Yılmaz · Haluk Topaloglu · I. Alemdaroglu · I. Alemdaroglu
Dystroglycanopathy: Description of the first patient cohort in Spain A. Adarmes Gómez · E. Servián Morilla · E. Rivas Infante · B. Muñoz Cabello · P. Carbonell Corvillo · L. Villarreal Pérez · E. Martínez Fernández · J. Fernández Ramos · L. Arrabal Fernández · M. Ley Martos · C. Márquez Infante · M. Madruga Garrido · C. Paradas López · C. Paradas López
Cross-sectional data on the 100 meter timed test in boys with Duchenne muscular dystrophy compared to age-matched controls K. Berry · Lindsay Alfano · N. Miller · Linda Lowes · Linda Lowes
ECG abnormalities correlate with myocardial fibrosis by cardiac magnetic resonance imaging in DMD Kan N. Hor · Subha V. Raman · Sharath Subramanian · T. Moran · T. Gnyawali · K. Lao · W. Benson · Linda H. Cripe · Linda H. Cripe
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up D. Natera-de Benito · J. Domínguez-Carral · N. Muelas · A. Nascimento · C. Ortez · T. Jaijo · R. Arteaga · J. Colomer · Juan J. Vílchez · Juan J. Vílchez
A boy with dystrophinopathy, episodic rhabdomyolysis and severe, cyclic emotional and behavioural problems E. Annexstad · R. Vatn · Toril Fagerheim · E. Antal · Magnhild Rasmussen · Magnhild Rasmussen
Clinical, muscle pathology and genetic features of GNE myopathy patients in Egypt: Case report R. El Sherif · Ichizo Nishino · I. Nonaka · S. Zaitoon · S. Zaitoon
IBIC-LG: Selectivity pattern of muscular MRI images in limb-girdle muscular dystrophy (LGMD) 2A using database of skeletal muscular images E. Iwabuchi · Akihiko Ishiyama · T. Nakayama · S. Kuru · Eri Takeshita · Yuko Shimizu-Motohashi · Hirofumi Komaki · M. Mori · Yasushi Oya · Ichizo Nishino · Masayuki Sasaki · Masayuki Sasaki
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy P. Van den Bergh · Y. Sznajer · Vinciane Van Parijs · W. van Tol · R.A. Wevers · Dirk J. Lefeber · Liwen Xu · Monkol Lek · Daniel G. MacArthur · K. Johnson · L. Phillips · Ana Töpf · Volker Straub · Volker Straub
Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families R. Van Coster · Joél Smet · B. De Paepe · Arnaud Vanlander · Elise Vantroys · Charlotte L. Alston · Alison G. Compton · D. Torburn · S. Seneca · Robert W. Taylor · Robert W. Taylor
Next generation sequencing for neuromuscular disease in a diagnostic setting – The Perth custom neuromuscular gene panel 3 years on Mark R. Davis · Richard Allcock · Nigel G. Laing · Nigel G. Laing
FSHD with severe asymmetrical weakness of abdominal muscles C. Straathof · U. Badrising · U. Badrising
Pattern analysis in Korean patients with distal myopathy using lower-limb MRI Hyun-Seok Park · J. Lee · Sang-Jun Na · Kee-Duk Park · Yuri Choi · Yuri Choi
Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders S. Lehtinen · Sini Penttilä · Tiina Suominen · Anni Evilä · Meharji Arumilli · Peter Hackman · B. Udd · B. Udd
Antioxidant therapy in RYR1-related myopathies I. Arveson · J. Witherspoon · B. Drinkard · M. Waite · M. Razaqyar · F. Tounkara · J. Elliott · M. Shelton · M. Jain · Carsten G. Bönnemann · K. Meilleur · K. Meilleur
Pediatric onset of mitochondrial myopathy due to ANT1 mutation Elena Martinez-Saez · M. Olive · Angel Sanchez-Montanez · M. Gratacos · F. Gran-Piña · E. García-Arumí · F. Paredes · J. Camacho-Soriano · S. Ramón y Cajal · A. Macaya · F. Munell · F. Munell
Metformin-induced deafness in mitochondrial disease S. Brady · G. Quagbeheur · A. Diot · E. Dombi · Monika Hofer · A. Parry · R. Butterworth · Joanna Poulton · Joanna Poulton
Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene María Morán · Alberto Blázquez · C. Fiuza-Luces · J. Díez-Bermejo · Aitor Delmiro · J. Docampo · P. Serrano-Lorenzo · Adrián González-Quintana · Joaquín Arenas · A. Laín-Hernández · Alejandro Lucia · Cristina Domínguez-González · Miguel A. Martín · Miguel A. Martín
Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24 Carola Hedberg-Oldfors · Olof Danielsson · L. Hübbert · I. Nennesmo · A. Abramsson · R. Banote · M. Edling · H. Zetterberg · Anders Oldfors · Anders Oldfors
Hereditary inclusion body myopathy in Turkish sisters with a novel mutation in the GNE gene Gulden Diniz · Y. Secil · Serdar Ceylaner · Figen Tokuçoğlu · Sabiha Türe · Mehmet Çelebisoy · T. Kurt Incesu · Galip Akhan · Galip Akhan
Mitochondrial dysfunction in the pathogenesis of oculopharyngeal muscular dystrophy T. Doki · Satoshi Yamashita · Z. Zhang · X. Zhang · N. Tawara · Yasushi Maeda · H. Hino · Eiichiro Uyama · Kimi Araki · Yukio Ando · Yukio Ando
JC-virus-related progressive multifocal leukoencephalopathy in a myasthenic patient treated by rituximab Bruno Eymard · A. Rigolet · L. Nguyen · F. Rozenberg · V. Afanasief · C. Duyckaerts · O. Benveniste · O. Benveniste
A comparison of the effects of deflazacort and prednisone versus placebo on timed functional tests in boys with Duchenne muscular dystrophy James Meyer · J. Dubow · T. Cunniff · S. Wanaski · S. Wanaski
Utrophin immunohistochemical expression in neuromuscular disorders R. Avila-Polo · E. Rivas · M. Cabrera-Serrano · P. Carbonell · I. Rojas-Marcos · Y. Morgado · E. Servian · M. Madruga · C. Marquez · C. Paradas · C. Paradas
Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation H. Maras Genc · D. Ardicli · G. Haliloglu · Beril Talim · M. Alikasifoglu · Haluk Topaloglu · Haluk Topaloglu
Functional assessment of nebulin interactions with actin J. Laitila · J. Lehtonen · M. Marttila · L. Sagath · Vilma-Lotta Lehtokari · Mikaela Grönholm · Carina Wallgren-Pettersson · Katarina Pelin · Katarina Pelin
The profile and natural history of congenital muscular dystrophies D. Ardicli · H. Maras Genc · K. Seyhan · A. Kahraman · M. Akcil · Beril Talim · G. Haliloglu · Ö. Tunca Yılmaz · I. Alemdaroglu · Haluk Topaloglu · A. Karaduman · A. Karaduman
Calpainopathy in Chile, first cases reported Jorge A. Bevilacqua · Y. Mathieu · Martin Krahn · Marc Bartoli · Claudia Castiglioni · K. Kleinsteuber · Jorge Díaz · F. Puppo · M. Cerino · Sébastien Courrier · Svetlana Gorokhova · N. Miranda · A. Trangulao · Patricio Gonzalez-Hormazabal · María de los Angeles Avaria · Jon Andoni Urtizberea · P. Caviedes · Lilian Jara · Nicolas Lévy · Nicolas Lévy
Comparing clinical phenotype of patients with Duchenne muscular dystrophy with deletions amenable to skipping exons 44, 45, and 53 S. Wang · Brenda Wong · Craig M. McDonald · Y. Yang · Nathalie Goemans · Nathalie Goemans
Implementation and process evaluation of the energetic study Yvonne Veenhuizen · Edith H. C. Cup · Ton Satink · J. Groothuis · B.G.M. van Engelen · M.W.G. Nijhuis-Van der Sanden · A. Guerts · A. Guerts
Positive detection of anti-NXP2 autoantibodies correlates with muscle ischemia in juvenile dermatomyositis Jessie Aouizerate · M. De Antonio · Brigitte Bader-Meunier · C. Bodemer · Christine Barnerias · Isabelle Desguerre · Romain K. Gherardi · Jean-Luc Charuel · François-Jérôme Authier · C. Gitaux · C. Gitaux
Distinctive IFNγ signature in anti-synthetase syndrome and inclusion body myositis compared to dermatomyositis M. Rigolet · Y. Baba Amer · Romain K. Gherardi · Guillaume Bassez · Francois Authier · Francois Authier
Integrated prospective results from the deflazacort clinical program suggest less severe psychiatric adverse events with deflazacort versus prednisone in Duchenne muscular dystrophy J. Dubow · P. Sazani · T. Cunniff · S. Wanaski · James Meyer · James Meyer
Contractile dysfunction in permeabilized muscle fibers of NEM6 patients with the Dutch founder mutation in KBTBD13 J. de Winter · M. van Willigenburg · Barbara Joureau · Ger J.M. Stienen · S. Lassche · B.G.M. van Engelen · Nicol C. Voermans · C. Ottenheijm · C. Ottenheijm
ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings Edoardo Malfatti · Soledad Monges · X. Lornage · O. Abath-Neto · Johann Böhm · Barbara Joureau · J. de Winter · J. Rendu · Susana Quijano-Roy · G. Brochier · Fabiana Lubieniecki · A. Madelaine · A. Chanut · Brigitte Estournet · Bruno Eymard · C. Ottenheijm · Ana Lia Taratuto · J. Laporte · Michel Fardeau · Norma B. Romero · Norma B. Romero
Sarcomeric signalling proteins: Hubs for mechanosensation and hotspots for inherited myopathies Mathias Gautel · M. Rees · R. Nikoopour · A. Fukuzawa · F. Fraternali · A. Laddach · S. Pernigo · M. Holt · R. Steiner · R. Steiner
Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings C. Ortez · A. Nascimento · C. Jimenez-Mallebrera · C. Jou · M. Llano · A. Rodriguez · Ana Töpf · K. Johnson · Volker Straub · Montse Olivé · A. Codina · J. Corbera · J. Colomer · J. Colomer
Novel homozygosity of c.1508insC mutation in DOK7 causes congenital myasthenia with variable severity Johanna Palmio · Sini Penttilä · Tiina Suominen · J. Kirjavainen · P. Kiviranta · J. Saarela · B. Udd · B. Udd
Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings Murat Kose · Mehtap Kağnıcı · Ebru Canda · S. Kalkan Ucar · G. Diniz · Aycan Ünalp · Ü. Yılmaz · Cenk Eraslan · S. Ceylaner · Robert W. Taylor · Mahmut Çoker · Mahmut Çoker
Longitudinal changes in oral and masticatory muscles in Duchenne muscular dystrophy: A disturbed balance Marloes Lj Lagarde · S. Knuijt · J. Groothuis · I. de Groot · L. van den Engel-Hoek · L. van den Engel-Hoek
Severe autosomal recessive congenital hypomyelinating neuropathy causing death in the first four months of life M. Cabrera · G. Ravenscroft · E. Andersen · Catriona McLean · D. Azmanov · Z. Stark · Mark R. Davis · Andrew J. Kornberg · Monique M. Ryan · Nigel G. Laing · Nigel G. Laing
Glucocorticoids deflazacort and prednisone show muscle strength effects versus placebo in boys with Duchenne muscular dystrophy ages 5–7 P. Sazani · T. Cunniff · S. Wanaski · J. Dubow · James Meyer · James Meyer
Getting the picture of facioscapulohumeral muscular dystrophy: Muscle magnetic resonance imaging and ultrasound Karlien Mul · Corinne G.C. Horlings · S. Vincenten · Nicol C. Voermans · N. van Alfen · B.G.M. van Engelen · B.G.M. van Engelen
Potential mechanisms for prolonged loss of ambulation with deflazacort in Duchenne muscular dystrophy – Tolerability profile and effects on growth James Meyer · T. Cunniff · S. Wanaski · J. Dubow · J. Dubow
Desminopathy in Chile, first cases reported Jorge A. Bevilacqua · L. Gonzalez-Quereda · C. Castiglioni · I. Zamorano · L. Acevedo · Jorge Díaz · M. Rodriguez · A. Trangulao · M. Rivera · P. Gallano · P. Gallano
Welcome to the World Muscle Society Congress in Granada Victor Dubowitz · Victor Dubowitz
Antioxidants improve muscle degeneration process Akiko Ishii · M. Yoshida · Hiroshi Ueno · Ken Kokubo · Norio Ohkoshi · Akira Tamaoka · Akira Tamaoka
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: Validation analysis of DMD mutations Mariko Okubo · Narihiro Minami · Kanako Goto · S. Noguchi · Satomi Mitsuhashi · Ichizo Nishino · Ichizo Nishino
Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation D. Ardicli · Rahsan Gocmen · Sebahattin Cirak · Beril Talim · G. Haliloglu · Haluk Topaloglu · Haluk Topaloglu
Complex processing of titin C-terminus by alternative cleavage of the is7 domain Anna Vihola · H. Luque · P.H. Jonson · J. Sarparanta · Bjarne Udd · Bjarne Udd
Clinical and mutational spectrum of congenital muscular dystrophy with defective alpha-dystroglycan glycosylation in Korea Yves Allenbach · M. Duchesne · S. Léonard-Louis · Thierry Maisonobe · Odile Dubourg · B. Hervier · O. Benveniste · O. Benveniste
Pain and fatigue in manifesting carriers of Duchenne and Becker muscular dystrophy P. Drivsholm · U. Werlauff · U. Werlauff
Clinical, muscle biopsy and image findings in reversible infantile respiratory chain deficiency R. El-Khoury · S. Traboulsi · T. Hamad · M. Ahdab-Barmada · M. Ahdab-Barmada
Neuromuscular diseases: The mitochondrial involvement I. Moshkovitz · Michal Becker-Cohen · Iris Eisenberg · Stella Mitrani-Rosenbaum · Stella Mitrani-Rosenbaum
Two recent pediatric cases of severe polio-like paralysis caused by enterovirus D68 infection in Spain P. Devic · Laure Gallay · Nathalie Streichenberger · Philippe Petiot · Philippe Petiot
MicroRNA regulation of the GNE gene Basil T. Darras · Jim S. Wu · Craig M. Zaidman · Kush Kapur · Sung Yim · Amy Pasternak · Lavanya Madabusi · Heather Szelag · Tim Harrington · Jia Li · Adam Pacheck · Seward B. Rutkove · Seward B. Rutkove
Focal myositis: A review Michael G. Hanna · Michael G. Hanna
Electrical impedance myography in Duchenne muscular dystrophy detects disease progression in boys younger than 7 years of age Emma Tabe Eko Niba · A. Nishuda · Van Khanh Tran · D. Vu · Masaaki Matsumoto · Hiroyuki Awano · Tomoko Lee · Yasuhiro Takeshima · Hisahide Nishio · Masafumi Matsuo · Masafumi Matsuo
Challenges developing therapies for inclusion body myositis Rubén Miranda · Serge Laroche · Cyrille Vaillend · Cyrille Vaillend
Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements I. Oncel · G. Haliloglu · E. Utine · C. Aksoy · K. Boduroglu · Haluk Topaloglu · Haluk Topaloglu
Reduced neuronal density in the CA1 anterodorsal hippocampus of the mdx mouse Shuko Joseph · Kate Bushby · M. Guglieri · Iain Horrocks · S. Ahmed · Sze Choong Wong · Sze Choong Wong
Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center E. Cavassa · M. Tordjman · Ana Ferreiro · Ivana Dabaj · Edoardo Malfatti · A. Bénezit · S. Monges · Gisèle Bonne · G. Vazquez · A.L. Taratuto · P. Laforêt · C. Cejas · C. Metay · Norma B. Romero · Robert-Yves Carlier · Susana Quijano-Roy · Susana Quijano-Roy
Growth patterns and fractures in boys with Duchenne muscular dystrophy: Insights from over 800 boys in the UK North Star cohort Valentina Sardone · Matthew J. Ellis · Silvia Torelli · L. Feng · D. Chambers · R. Phadke · C. Sewry · J.E. Morgan · Francesco Muntoni · Francesco Muntoni
Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis Brenda Wong · I. Rybalsky · K. Shellenbarger · C. Tian · Mary A. McMahon · Meilan M. Rutter · Hemant Sawnani · John L. Jefferies · John L. Jefferies
Optimizing dystrophin quantification in DMD and BMD patients: A new semi-automated acquisition and analysis method I. Rojas-Marcos · J. Rubí · A. Blázquez · P. Carbonell · R. De Torres · A. Domínguez-Mayoral · R. Ávilla · M. Martín-Casanueva · C. Gutiérrez · C. Márquez-Infante · E. Rivas · C. Paradas · C. Domínguez-González · C. Domínguez-González
Interdisciplinary management of Duchenne muscular dystrophy patients on daily glucocorticoid treatment: Maximizing functional outcomes and minimizing glucocorticoid side effects Natassia M. Vieira · A. Assoni · Ingegerd Elvers · Matthew S. Alexander · Alal Eran · J. Marshall · Sergio Verjovski-Almeida · Kerstin Lindblad-Toh · Louis M. Kunkel · Mayana Zatz · Mayana Zatz
Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients Matteo Garibaldi · Fabiana Fattori · B. Riva · C. Labasse · Guy Brochier · Pierfrancesco Ottaviani · Francesco Laschena · Norma B. Romero · A. Genazzani · Enrico Bertini · Giovanni Antonini · Giovanni Antonini
Jagged1 as a modifier of the DMD phenotype: What is next? Akihiko Ishiyama · I. Shibuya · Y. Motohashi · Eri Takeshita · Hirofumi Komaki · Kenji Sugai · Masayuki Sasaki · Satomi Mitsuhashi · S. Noguchi · Ikujiro Nonaka · Ichizo Nishino · Ichizo Nishino
Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1 L. Arouche-Delaperche · Y. Allenbach · D. Amelin · Werner Stenzel · Gillian Butler-Browne · O. Benveniste · O. Benveniste
Signal abnormalities of muscle and fascia in muscular MRI imaging at pretreatment stage in children with juvenile dermatomyositis N. Danièle · C. Moal · L. Julien · T. Jamet · Romain Joubert · Samia Martin · Alban Vignaud · Michael W. Lawlor · Anna Buj-Bello · Anna Buj-Bello
Muscle atrophy and regeneration impairment of anti-SRP and anti-HMGCR Abs in necrotizing autoimmune myopathies C. Tian · C. Tian · Brenda Wong · Brenda Wong · Lindsey Hornung · Jane Khoury · Jane Khoury · Lauren E. Miller · J. Bange · I. Rybalsky · Meilan M. Rutter · Meilan M. Rutter · Meilan M. Rutter
AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy T. Rosa · C. Iwabe-Marchese · Luciano de Souza Queiroz · Marcondes C. França · A. Nucci · A. Nucci
Bone health measures in glucocorticoid-treated ambulatory boys with Duchenne muscular dystrophy Nuria Carrillo · Marjan Huizing · M. Quintana · Christina Slota · May Christine V. Malicdan · H. Khatami · S. Berry · William A. Gahl · William A. Gahl
Clinimetric studies in centronuclear myopathies K. Takamura · Joline Dalton · Peter I. Karachunski · Peter I. Karachunski
Therapeutic development of ManNAc for GNE myopathy J. Powers · P. Duda · H. Eliopoulos · H. Eliopoulos
A large dominant myotonia congenita family with a V1293I mutation in SCN4A Ki-Wha Chung · Da Hye Yoo · S. Lee · Byung-Ok Choi · Byung-Ok Choi
Loss-of-function mutation of TRIP4 causes a novel form of congenital muscle disease and reveals the transcription coactivator ASC-1 as a new regulator of skeletal myogenesis M. Gomez-Garcia de la Banda · N. Julià · A. Felipe · Angel Sanchez-Montanez · J. Balcells · M. Pujol · P. Soler · C. Rodrigo · B. Floriano · J. Lopez · A. Macaya · F. Munell · F. Munell
LGMD2D intrafamilial clinical heterogeneity caused by alternative splicing of SGCA gene L. Davignon · C. Chauveau · C. Julien · C. Dill · I. Duband-Goulet · E. Cabet · B. Buendia · Alain Lilienbaum · John Rendu · M. Minot · A. Guichet · Valérie Allamand · N. Vadrot · Julien Fauré · Sylvie Odent · L. Lazaro · J. Leroy · P. Marcorelles · O. Dubourg · Ana Ferreiro · Ana Ferreiro
Research for the pathogenesis and therapy of dysferlinopathy using proteomics approach H. Ono · Naoki Suzuki · S. Kanno · Katsuya Miyake · Yasuo Kitajima · Rumiko Izumi · Toshiaki Takahashi · Hitoshi Warita · A. Yasui · Masashi Aoki · Masashi Aoki
Effect of deflazacort and prednisone on muscle enzymes in the treatment of Duchenne muscular dystrophy Julia Filardi Paim · Ana Cotta · Monica M. Navarro · Elmano Carvalho · Jaquelin Valicek · A. Cunha Junior · S. Baptista Junior · E. Silveira · M. F. Lima · E. Carellos · Reinaldo Issao Takata · Reinaldo Issao Takata
Diagnostic value of the activity of mitochondrial respiratory chain complex for mitochondrial myopathies L. Lebrato-Hernandez · E. Rivas-Infante · A. Cortes-Rodriguez · P. Carbonell-Corvillo · L. Villareal-Perez · C. Marquez-Infante · I. Rojas-Marcos · E. Martinez-Fernandez · A. Carvajal-Hernandez · M. Cascajo-Almenara · M. Martin-Casanueva · J. Rodriguez-Aguilera · C. Paradas-Lopez · C. Paradas-Lopez
Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy A. Seferian · G. Quicke · Teresa Gidaro · E. Gargaun · E. Gasnier · Y. Pereon · A. Daron · Claude Cances · Carole Vuillerot · Nathalie Goemans · Vincent Laugel · Jean-Marie Cuisset · Ulrike Schara · A. Marquet · A. Chabanon · M. Annoussamy · D. Vissiere · L. Servais · L. Servais
Clinical outcome study for dysferlinopathy: One-year follow-up Carmen Paradas · Ursula R Moore · M. James · Anna Mayhew · N. Azzabou · R. Fernandez Torron · H. Reyngoudt · Fiona E. Smith · Elizabeth Harris · K. Bettinson · H. Hilsden · M. Jacobs · J. Feng · Avital Cnaan · Laura E. Rufibach · Michelle Eagle · Andrew M. Blamire · Pierre G. Carlier · Kate Bushby · Kate Bushby
Paravertebral muscles in adolescent idiopathic scoliosis: mRNA expression of melatonin receptors 1A/1B, calmodulin, and estrogen receptor-2 G. Buyse · Oscar H. Mayer · R. Donisa-Dreghici · F. Couttet · J. Wolff · N. Coppard · N. Coppard
A phase III double-blind, randomized, placebo-controlled study (SIDEROS) assessing the efficacy of idebenone in slowing the rate of respiratory function loss in patients with Duchenne muscular dystrophy receiving glucocorticoid steroids D. Escolar · A. Britton · J. Loewy · K. Dykstra · E. Poggio · E. Bush · M. Blaustein · M. Blaustein
HT-100 increases muscle strength and is safe at low doses in DMD ambulant and non-ambulant boys: Results of HALO-DMD-01 and HALO-DMD02 clinical trials Kan N. Hor · Subha V. Raman · May Ling Mah · Linda H. Cripe · Linda H. Cripe
Cardiac evaluation in Duchenne muscular dystrophy patients presenting with acute severe chest pain M. Cramer · Paul T. Martin · Paul T. Martin
Prednisolone therapy reduces incidence of mononuclear T-cell infiltrates after AAV transduction of GALGT2 in the rhesus macaque Nicolas Wein · Tabatha R. Simmons · Felecia Gumienny · Jacqueline Yurkoski · Nianyuan Huang · Francesco Muntoni · Kevin M. Flanigan · Kevin M. Flanigan
A single neonatal delivery of an exon 2 directed AAV9.U7snRNA vector results in long-term dystrophin expression that prevents pathologic features in the Dup2 mouse Takashi Kurashige · Hiroyuki Morino · T. Kanbara · Yoshito Nagano · Mutsuko Araki · Hirofumi Maruyama · T. Torii · Masayasu Matsumoto · Masayasu Matsumoto
TBK1 exists with optineurin around rimmed vacuoles H. Kılınç · O. Yılmaz · I. Alemdaroglu · N. Bulut · Haluk Topaloglu · A. Karaduman · A. Karaduman
Awareness of caregivers about swallowing disorders in pediatric neuromuscular diseases Erika L. Finanger · Krista Vandenborne · Richard S. Finkel · H. Sweeney · Gihan Tennekoon · Sabrina W. Yum · M. Mancini · J. Danis · P. Bista · A. Nichols · J. Donovan · J. Donovan
CAT-1004, an oral agent targeting NF-kB: MoveDMD trial results in Duchenne muscular dystrophy (DMD) Andrew Stewart · Robert Krupnick · Margaret Meyer · J. Paty · Alaa Hamed · Alaa Hamed
Late-onset Pompe disease signs and impacts: A conceptual model E. Costa · A. Sousa · F. Moreno · R. Taipa · Ana Rita Gonçalves · Rosário Santos · M. Melo-Pires · M. Santos · M. Santos
Duchenne muscular dystrophy: Clinical, genetic and pathological changes in preclinical and early stages A. Cho · B. Lim · Minkyun Kim · K.-W. Kim · Jong-Hee Chae · Jong-Hee Chae
Oedematous myositis: An original subtype of autoimmune myopathy characterised by intense C5-b9 deposits L. Sagath · J. Laitila · Vilma-Lotta Lehtokari · K. Kiiski · Mikaela Grönholm · Carina Wallgren-Pettersson · Katarina Pelin · Katarina Pelin
Functional studies of YBX3 variants associated with nemaline myopathy J. Buendía · A. Paipa · R. Dominguez · E. Verges · E. García · J. López · F. Fuentes · F. Munell · M. Olivé · A. Sanchez Montañez · A. Sanchez Montañez
Radiologically confirmed fractures in a Scottish nationwide cohort of boys with Duchenne muscular dystrophy O. Landon-Cardinal · Yves Allenbach · A. Rigolet · A. Simon · N. Champtiaux · O. Benveniste · O. Benveniste
Book reviewBook reviewOxford textbook of neuromuscular disorders, David Hilton-Jones, Martin R. Turner, editors. Oxford University Press (2014). 381 pp. Price £117.50, ISBN-13: 978-0199698073 Joana Domingos · Anna E. Martinez · Francesco Muntoni · Francesco Muntoni
Rolled cake sign in calpain related myopathies Amanda F. Assoni · Giuliana Castello Coatti · M. Beccari · J. Gomes · K. Cardozo · M. Neto · V. Carvalho · Mayana Zatz · Mayana Zatz
Rituximab for the treatment of anti-HMGCR necrotizing autoimmune myopathy C. Jones · S. Cook · K. Hobby · J. Jarecki · J. Jarecki
Controversial preclinical results in neuromuscular animal models: Are they related to differences in mesenchymal stromal cells (MSCs) secretome? H. Livne · A. Daya · Michal Becker-Cohen · Stella Mitrani-Rosenbaum · Stella Mitrani-Rosenbaum
SMA subtype concordance in siblings: Findings from the cure SMA cohort J. Dubow · T. Cunniff · S. Wanaski · James Meyer · James Meyer
Development of a zebrafish model for GNE myopathy L. Gonzalez-Quereda · P. Gallano · E. Gallardo · M. Rodriguez · Cinta Lleixà · Volker Straub · Ana Töpf · J. Diaz-Manera · J. Diaz-Manera
Recurrent de novo BICD2 mutation associated with severe arthrogryposis and polymicrogyria: Expanding the phenotype Gianina Ravenscroft · N. Di Donato · Mark R. Davis · Paul Craven · G. Poke · K. Neas · Theresa Neuhann · William B. Dobyns · Nigel G. Laing · Nigel G. Laing
Sarcocystis fayeri in skeletal muscle of horses with neuromuscular disease Monica Aleman · Karen Shapiro · Sílvia Sisó · Diane C. Williams · Daniel Rejmanek · Beatriz Aguilar · Patricia A. Conrad · Patricia A. Conrad
Deoxyribonucleoside supply rescues mtDNA depletion in human POLG-deficient fibroblasts C. Blázquez-Bermejo · J. Torres-Torronteras · R. Cabrera · A. Lombès · R. Martí · Y. Cámara · Y. Cámara
Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy Massimo Russo · Gian Luca Vita · Claudia Stancanelli · Claudia Stancanelli · Anna Mazzeo · Giuseppe Vita · Sonia Messina · Sonia Messina
Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy Valeria Guglielmi · Arie Oosterhof · Nicol C. Voermans · Rosanna Cardani · J. Molenaar · T.H. van Kuppevelt · Giovanni Meola · B.G.M. van Engelen · Giuliano Tomelleri · Gaetano Vattemi · Gaetano Vattemi
Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis Maartje G. Huijbers · Erik H. Niks · Rinse Klooster · Marianne de Visser · Jan B. M. Kuks · Jan H. Veldink · Pim Klarenbeek · Philip Van Damme · Marc H. De Baets · Silvère M. van der Maarel · Leonard H. van den Berg · Jan J. Verschuuren · Jan J. Verschuuren
Elderly-onset familial myasthenia gravis in two siblings Tomoki Hirunagi · Koyo Tsujikawa · Yasuhiro Hasegawa · Kazuo Mano · Masahisa Katsuno · Masahisa Katsuno
Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: a dysregulation of the adaptive immune system ? Maria del Mar Amador · Nadia Vandenberghe · Nawel Berhoune · Jean-Philippe Camdessanché · Sophie Gronier · Emilien Delmont · Claude Desnuelle · Pascal Cintas · Sophie Pittion · Sarah Louis · Sophie Demeret · Timothée Lenglet · Vincent Meininger · François Salachas · Pierre-François Pradat · Gaelle Bruneteau · Gaelle Bruneteau
Response to: Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update Nicolas Chrestian · Jiri Vajsar · Jiri Vajsar
Myasthenia gravis and amyotrophic lateral sclerosis: A pathogenic overlap Håvard Torvik Gotaas · Håvard Torvik Gotaas · Geir Olve Skeie · Geir Olve Skeie · Nils Erik Gilhus · Nils Erik Gilhus · Nils Erik Gilhus
Anti-MuSK myasthenia gravis with prolonged remission Jean Paul Bouwyn · Patrick Magnier · Anne-Laure Bedat-Millet · Patrick Ahtoy · David Maltête · David Maltête · Romain Lefaucheur · Romain Lefaucheur
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update Carlotta Spagnoli · Alessandro Iodice · Grazia Gabriella Salerno · Daniele Frattini · Gianna Bertani · Carlo Fusco · Carlo Fusco
Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation Dimitri Renard · Florence Erny · Dominique Figarella-Branger · Martin Krahn · Martin Krahn
No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome J.A. van der Vliet · Aad Verrips · Alide A. Tieleman · H. Scheffer · H. Cats · A.A. den Broeder · B.G.M. van Engelen · B.G.M. van Engelen
Corrigendum toThe 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome): [Neuromuscular Disorders Volume 25 (2015) 991–1020] Jean-Claude Kaplan · Dalil Hamroun · Dalil Hamroun
A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD) Lisa M. Petek · Amanda M. Rickard · Christopher B. Budech · Sandra L. Poliachik · Dennis W. W. Shaw · Mark R. Ferguson · Rabi Tawil · Seth D. Friedman · Daniel G. Miller · Daniel G. Miller
The immune system continues to knock at the ALS door Nathan P. Staff · Stanley H. Appel · Stanley H. Appel
The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands Johanna C.W. Deenen · Pieter A. van Doorn · Catharina G. Faber · Anneke J. van der Kooi · Jan B. M. Kuks · Nicolette C. Notermans · L.H. Visser · Corinne G.C. Horlings · Jan J. Verschuuren · A.L.M. Verbeek · Baziel G.M. van Engelen · Baziel G.M. van Engelen
The 6-minute walk test, motor function measure and quantitative thigh muscle MRI in Becker muscular dystrophy: A cross-sectional study Dirk Fischer · Dirk Fischer · Patricia Hafner · Daniela Rubino · Maurice Schmid · Cornelia Neuhaus · Hans H. Jung · Oliver Bieri · Tanja Haas · Monika Gloor · Arne Fischmann · Ulrike Bonati · Ulrike Bonati
1st Workshop on Upper-Extremity Assistive Technology for People with Duchenne: State of the art, emerging avenues, and challenges: April 27th 2015, London, United Kingdom Arjen Bergsma · J. Lobo Prat · E. Vroom · P. Furlong · Justus Laurens Herder · Justus Laurens Herder · M. Corrigan · I. de Groot · A. Aldo Faisal · Nathalie Goemans · J. Han · M. Iodice · A. Kennedy · Hubertus F.J.M. Koopman · Jl Prat · M. Main · B. Mathie · Francesco Muntoni · Mn Castro · Micha I. Paalman · J. Porter · T. Rahman · J. Schneider · Arno H. A. Stienen · Paul P. Verstegen · C. Walsh · C. Walsh
Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey Hacer Durmuş-Tekçe · Zeliha Matur · Murat Mert Atmaca · M. Poda · Arman Çakar · Ümit Hıdır Ulaş · P. Oflazer-Serdaroglu · Feza Deymeer · Yesim Parman · Yesim Parman
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles Mitsuru Furuta · Hisae Sumi-Akamaru · Masanori P. Takahashi · Yukiko K. Hayashi · Ichizo Nishino · Hideki Mochizuki · Hideki Mochizuki
Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene Shiro Matsubara · Toshio Shimizu · Takashi Komori · Madoka Mori-Yoshimura · Narihiro Minami · Yukiko K. Hayashi · Yukiko K. Hayashi
Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1 Damien Bachasson · A. Moraux · Gwenn Ollivier · Valérie Decostre · Isabelle Ledoux · Teresa Gidaro · Laurent Servais · Anthony Behin · Tanya Stojkovic · Luc J. Hébert · Jack Puymirat · Bruno Eymard · Guillaume Bassez · Jean-Yves Hogrel · Jean-Yves Hogrel
Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015 Rabi Tawil · Jean K. Mah · Scott Baker · Kathryn R. Wagner · Monique M. Ryan · Monique M. Ryan · A. Corbett · Baziel G.M. van Engelen · Stephen McNamara · John E.J. Rasko · Veena Raykar · Sabrina Sacconi · Stephen J. Tapscott · Alan Watts · Alan Watts
Describing nutrition in spinal muscular atrophy: A systematic review Georgia E. Moore · Amara W. Lindenmayer · Grace A. McConchie · Monique M. Ryan · Monique M. Ryan · Zoe E. Davidson · Zoe E. Davidson · Zoe E. Davidson
Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome Karim Wahbi · Karim Wahbi · Frederic A. Sebag · Nicolas Lellouche · Arnaud Lazarus · Henri-Marc Bécane · Guillaume Bassez · Tanya Stojkovic · Abdallah Fayssoil · P. Laforêt · Anthony Behin · Christophe Meune · Bruno Eymard · Denis Duboc · Denis Duboc
Dystrophic changes in masticatory muscles related chewing problems and malocclusions in Duchenne muscular dystrophy L. van den Engel-Hoek · I. de Groot · L.T. Sie · H.W. van Bruggen · S.A.F. de Groot · Corrie E. Erasmus · N. van Alfen · N. van Alfen
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results Teresa Giugliano · Marina Fanin · Marco Savarese · Giulio Piluso · Corrado Angelini · Vincenzo Nigro · Vincenzo Nigro
Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion Maxime Jouaud · Pierre-Marie Gonnaud · Laurence Richard · Philippe Latour · Elisabeth Ollagnon-Roman · Franck Sturtz · Stéphane Mathis · Laurent Magy · Jean-Michel Vallat · Jean-Michel Vallat
Bilateral congenital lumbar hernias in a patient with central core disease--A case report Joanna Lazier · Jean K. Mah · Ana Nikolic · Xing-Chang Wei · Veronica Mugarab Samedi · Carlos Fajardo · Mary Brindle · Renee Perrier · Renee Perrier · Mary Ann Thomas · Mary Ann Thomas · Mary Ann Thomas
Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1 Fabio Esposito · Emiliano Cè · Susanna Rampichini · Eloisa Limonta · Massimo Venturelli · E. Monti · L. Bet · Barbara Fossati · Giovanni Meola · Giovanni Meola
GDAP1 mutations in Italian axonal Charcot–Marie–Tooth patients: Phenotypic features and clinical course I. Pezzini · Alessandro Geroldi · S. Capponi · Rossella Gulli · Angelo Schenone · Marina Grandis · L. Doria-Lamba · C. La Piana · M. Cremonte · C. Pisciotta · M. Nolano · F. Manganelli · L. Santoro · Paola Mandich · Emilia Bellone · Emilia Bellone
The Performance of the Upper Limb scores correlate with pulmonary function test measures and Egen Klassifikation scores in Duchenne muscular dystrophy Ha Neul Lee · Hemant Sawnani · Paul S. Horn · I. Rybalsky · Lani Relucio · Brenda Wong · Brenda Wong
Positive effects of bisphosphonates on bone and muscle in a mouse model of Duchenne muscular dystrophy Sung-Hee Yoon · Sung-Hee Yoon · Kim S. Sugamori · Marc D. Grynpas · Jane Mitchell · Jane Mitchell
Combination of mitochondrial myopathy and biventricular hypertrabeculation/noncompaction Jing Wang · Xiangquan Kong · Ping Han · Bo Hu · Fei Cao · Yuanyuan Liu · Qing Zhu · Qing Zhu
Targeted next-generation sequencing assay for detection of mutations in primary myopathies Anni Evilä · Meharji Arumilli · Bjarne Udd · Bjarne Udd · Peter Hackman · Peter Hackman
Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse Miguel Chuquilin · Upinder K. Dhand · Upinder K. Dhand
3D analysis of the chest wall motion for monitoring late-onset Pompe disease patients Henri Meric · Line Falaize · Didier Pradon · David Orlikowski · Hélène Prigent · Frédéric Lofaso · Frédéric Lofaso
Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia Stephan Johannsen · Susan Treves · Clemens R. Müller · Susanne Mögele · Daniel Schneiderbanger · Norbert Roewer · Frank Schuster · Frank Schuster
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations D. Natera-de Benito · M. Bestué · Juan J. Vílchez · Teresinha Evangelista · Ana Töpf · A. García-Ribes · M.J. Trujillo-Tiebas · M. García-Hoyos · C. Ortez · Ana I. Camacho · Esther Jiménez · Marina Dusl · Angela Abicht · Hanns Lochmüller · J. Colomer · A. Nascimento · A. Nascimento
Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency S. Coppens · Pavla Koralkova · Alec Aeby · Renata Mojzikova · Nicolas Deconinck · Hazim Kadhim · Richard van Wijk · Richard van Wijk
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB L. Brady · Mamta Giri · John Provias · Eric P. Hoffman · Mark A. Tarnopolsky · Mark A. Tarnopolsky
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion Sander Pajusalu · Sander Pajusalu · Inga Talvik · Inga Talvik · Klari Noormets · Tiina Talvik · Tiina Talvik · Haide Põder · Kairit Joost · Sanna Puusepp · Andres Piirsoo · Werner Stenzel · Hans H. Goebel · Tiit Nikopensius · Tarmo Annilo · Margit Nõukas · Andres Metspalu · Katrin Õunap · Katrin Õunap · Tiia Reimand · Tiia Reimand · Tiia Reimand
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency Zhaoxia Wang · Daojun Hong · Wei Zhang · Wurong Li · Xin Shi · Danhua Zhao · Xu Yang · He Lv · Yun Yuan · Yun Yuan
Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1 Sabine Rudnik-Schöneborn · Nina Barišić · Katja Eggermann · Nadina Ortiz Brüchle · Petra Grđan · Klaus Zerres · Klaus Zerres
Muscle from a 20-week-old myotubular myopathy fetus is not myotubular Kohei Hamanaka · Ikuhiro Inami · Takahito Wada · Satomi Mitsuhashi · S. Noguchi · Yukiko K. Hayashi · Ichizo Nishino · Ichizo Nishino
Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies Volker Straub · M. Bertoli · M. Bertoli
How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases? Charles Sèbiyo Batcho · Charles Sèbiyo Batcho · Peter Van den Bergh · Philip Van Damme · Anna J. Roy · Jean-Louis Thonnard · Jean-Louis Thonnard · Massimo Penta · Massimo Penta
The Meryon Lecture at the 18th Annual Meeting of the Meryon Society Wolfson College, Oxford, UK, 12th September 2014: Neuromuscular disorders in Roma (Gypsies)--collaborative studies, epidemiology, community-based carrier testing program and social activities Ivailo Tournev · Ivailo Tournev · Ivailo Tournev
Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York Rabi Tawil · George W. Padberg · Dennis W. W. Shaw · Silvère M. van der Maarel · Stephen J. Tapscott · Stephen J. Tapscott
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 H. Orhan Akman · Yavuz Aykit · Ozge Ceren Amuk · Edoardo Malfatti · Norma B. Romero · Maria Antonietta Maioli · Rachele Piras · Salvatore DiMauro · Gianni Marrosu · Gianni Marrosu
Evaluation of muscle oxygenation by near infrared spectroscopy in patients with facioscapulohumeral muscular dystrophy N. Olivier · J. Boissiere · E. Allart · Patrick Mucci · A. Thevenon · F. Daussin · V. Tiffreau · V. Tiffreau
Clinical safety of eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), in Duchenne muscular dystrophy (DMD) patients amenable to skipping exon 51 of the DMD gene D. Kemaladewi · E. Hyatt · Z. Ivakine · Ronald D. Cohn · Ronald D. Cohn
Neuromuscular disorders (2nd edition), Anthony A. Amato, James A. Russell. McGraw Hill Publishers (2015). 948 pp. Hardcover, $208.00, ISBN 978-0-07-175250-3 Gautam Ambegaonkar · Gautam Ambegaonkar
Worsening of myasthenia gravis after administration of injectable long-acting risperidone for treatment of schizophrenia; first case report and a call for caution Jasem Al-Hashel · Ismail Ibrahim Ismail · John K. John · Mohammed Ibrahim · Mahmoud Ali · Mahmoud Ali
Myopathy associated with anti-signal recognition particle antibodies; diagnosis and management in Egyptian patients: Case report R. El Sherif · Ichizo Nishino · A. Uruha · Shigeaki Suzuki · Shigeaki Suzuki
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease Laure Gallay · Philippe Petiot · Isabelle Durieu · Nathalie Streichenberger · Frederic Berard · Frederic Berard
Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy Ami Mankodi · Courtney A. Bishop · Sungyoung Auh · Rexford D. Newbould · Kenneth H. Fischbeck · Robert L. Janiczek · Robert L. Janiczek
Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients György Máté Milley · Edina Timea Varga · Edina Timea Varga · Zoltan Grosz · Benjamin Bereznai · Zsuzsanna Arányi · Judit Boczán · P. Diószeghy · Bernadette Kalman · Anikó Gál · Mária Judit Molnár · Mária Judit Molnár
Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: A case report Jos G.M. Hendriksen · Sylvia Klinkenberg · Phillipe Collin · Brenda Wong · Erik H. Niks · Johan S.H. Vles · Johan S.H. Vles
Identifying evidence of cardio-renal syndrome in patients with Duchenne muscular dystrophy using cystatin C Chet R. Villa · Ahmad Kaddourah · Jacob Mathew · Thomas D. Ryan · Brenda Wong · Stuart L. Goldstein · John L. Jefferies · John L. Jefferies
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle Edoardo Malfatti · Christine Barnerias · Carola Hedberg-Oldfors · Cyril Gitiaux · Audrey Benezit · Anders Oldfors · Robert-Yves Carlier · Susana Quijano-Roy · Norma B. Romero · Norma B. Romero
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing Aneek Das Bhowmik · Ashwin Dalal · Ashwin Dalal · Divya Matta · Rukmini Mridula Kandadai · Meena Angamuthu Kanikannan · Shagun Aggarwal · Shagun Aggarwal · Shagun Aggarwal
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) A. Seferian · Edoardo Malfatti · Caroline Bosson · Laurent Pelletier · Jessica Taytard · Véronique Forin · Teresa Gidaro · Elena Gargaun · Pierre G. Carlier · Julien Fauré · Norma B. Romero · John Rendu · Laurent Servais · Laurent Servais
Duchenne muscular dystrophy (4th edition), Alan Emery, Francesco Muntoni and Rosaline Quinlivan. Oxford University Press (2015). 320 pp., £60.00, ISBN 978-0-19-968148-8 Gautam Ambegaonkar · Gautam Ambegaonkar
Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both Michelangelo Mancuso · Daniele Orsucci · Corrado Angelini · Enrico Bertini · Claudio Bruno · Valerio Carelli · Comi P Giacomo · Massimiliano Filosto · Costanza Lamperti · M. Moggio · T. Mongini · Isabella Moroni · Paola Tonin · Antonio Toscano · Gabriele Siciliano · Gabriele Siciliano
Clinical and pathological heterogeneity in a family with ACTA1 mutation and TTN variants P. Dhawan · Eric J. Sorenson · Teerin Liewluck · Magdalena Walkiewicz · Kandelaria M. Rumilla · Margherita Milone · Margherita Milone
Adiponectin hinders the NLRP3 inflammasome in a murine model of Duchenne muscular dystrophy R. Boursereau · M. Abou-Samra · S. Lecompte · Laura A. Noël · Sonia Brichard · Sonia Brichard
LMNA-associated congenital muscular dystrophy: 3 cases presenting dropped head syndrome J. Ferreira · M. Ribeiro · T. Moreno · T. Moreno
Prolonged benefit from systemic rAAV8 in a canine model of myotubular myopathy Matthew Elverman · David L. Mack · Karine Poulard · Melissa A. Goddard · Jessica M. Snyder · Robert W. Grange · Virginie Latournerie · Philippe Veron · Hui Meng · Federico Mingozzi · Michael W. Lawlor · Alan H. Beggs · Martin K. Childers · Anna Buj-Bello · Anna Buj-Bello
Titin-related myopathies: An emerging and growing group of striated muscle diseases Ana Ferreiro · Ana Ferreiro
Muscle microdialysis in facioscapulohumeral muscular dystrophy G. Tasca · Mauro Monforte · Maddalena Corbi · Giuseppe Granata · Alessandro Sgambato · Enzo Ricci · Enzo Ricci
Serum IGF1 and IGFBP3 levels in SMA patients A. Yesbek Kaymaz · A. Bal · Gamze Bora-Tatar · A. Ozon · A. Alikasifoglu · Haluk Topaloglu · Hayat Erdem-Yurter · Hayat Erdem-Yurter
A novel homozygous desmin nonsense mutation causes pediatric onset autosomal recessive desminopathy with severe cardiomyopathy C. Tian · C. Fuller · Lili Miles · John L. Jefferies · Thomas D. Ryan · Hemant Sawnani · A. Bolger · Brenda Wong · Brenda Wong
Dutch founder mutation in MICU1 found in seven patients with a LGMD-like phenotype and cognitive impairment Ieke B. Ginjaar · Erik H. Niks · L. van der Pol · A.J. van der Kooi · C.S.M. Straathof · H.A. van Duyvenvoorde · Marjolein Kriek · Marjolein Kriek
Osteoprotegerin full length protein mitigates muscular dystrophy in fast-twitch skeletal muscles Sébastien S. Dufresne · Antoine Boulanger-Piette · Hideo Yagita · Josef M. Penninger · Jérôme Frenette · Jérôme Frenette
A juvenile case of eosinophilic fasciitis outcome S.J. Kim · S. Huh · Hyunsu Kim · D. Kim · D. Kim
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript Alice Todeschini · Francesca Gualandi · Cecilia Trabanelli · A. Armaroli · Anna Ravani · Marina Fanin · Silvia Rota · Luca Bello · Alessandra Ferlini · Elena Pegoraro · Alessandro Padovani · Massimiliano Filosto · Massimiliano Filosto
GNE myopathy biomarkers: Essential for diagnosis and response to therapy May Christine V. Malicdan · Petcharat Leoyklang · Carla Ciccone · Nuria Carrillo · Marjan Huizing · William A. Gahl · William A. Gahl
DMD genotypes and loss of ambulation in the CINRG Duchenne natural history study Luca Bello · Lauren P. Morgenroth · Heather Gordish-Dressman · Eric P. Hoffman · Craig M. McDonald · Sebahattin Cirak · Sebahattin Cirak
Anna Fidzianska (1930–2015) Anna Kamińska · Hans H. Goebel · Hans H. Goebel
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions Carlos Pablo de Fuenmayor-Fernández de la Hoz · Aurelio Hernández-Laín · Montse Olivé · Ana Fernández-Marmiesse · Cristina Domínguez-González · Cristina Domínguez-González
Duchenne muscular dystrophy: Ringo to the rescue? Ronald D. Cohn · Victor Dubowitz · Victor Dubowitz
Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort Ghilas Boussaïd · Frédéric Lofaso · Dante Brasil Santos · Isabelle Vaugier · Sandra Pottier · Hélène Prigent · David Orlikowski · Stéphane Bahrami · Stéphane Bahrami
Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers Mariz Vainzof · Leticia Feitosa · M. Canovas · D. Ayub-Guerrieri · Rita C.M. Pavanello · Mayana Zatz · Mayana Zatz
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature F. Biasini · S. Portaro · Anna Mazzeo · Giuseppe Vita · Gian Maria Fabrizi · Federica Taioli · Antonio Toscano · Carmelo Rodolico · Carmelo Rodolico
Mitochondrial neuropathies: A survey from the large cohort of the Italian Network Michelangelo Mancuso · Daniele Orsucci · Corrado Angelini · Enrico Bertini · Valerio Carelli · Giacomo P. Comi · Antonio Federico · Carlo Minetti · Maurizio Moggio · Maurizio Moggio · Tiziana Mongini · Paola Tonin · Antonio Toscano · Claudio Bruno · Elena Caldarazzo Ienco · Massimiliano Filosto · Costanza Lamperti · Daria Diodato · Isabella Moroni · Olimpia Musumeci · Elena Pegoraro · Marco Spinazzi · Naghia Ahmed · Monica Sciacco · Monica Sciacco · Liliana Vercelli · Anna Ardissone · Massimo Zeviani · Gabriele Siciliano · Gabriele Siciliano
Thrombospondin-1 levels correlate with macrophage activity and disease progression in dysferlin deficient mice Norifumi Urao · Rita E. Mirza · Ahlke Heydemann · Jesús García · Jesús García
20th Anniversary Congress of the World Muscle Society, Brighton 2015 Jane Miller · Jane Miller
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene Mahsa Fadaee · Ariana Kariminejad · Zohreh Fattahi · Shahriar Nafissi · Hamed Reza Godarzi · Maryam Beheshtian · Raheleh Vazehan · Mohammad Akbari · Mohammad Akbari · Kimia Kahrizi · Hossein Najmabadi · Hossein Najmabadi
Noncompaction and the neuromuscular connection Josef Finsterer · Claudia Stöllberger · Claudia Stöllberger
Proximal muscular atrophy and weakness: An unusual adverse effect of deferasirox iron chelation therapy Katharina Vill · Wolfgang Müller-Felber · Veronika Teusch · Astrid Blaschek · Lucia Gerstl · S. Huetker · M.H. Albert · M.H. Albert
C5b-9 deposits on endomysial capillaries in non-dermatomyositis cases Anne K. Braczynski · Patrick N. Harter · Pia Zeiner · Ulrich Drott · Dominique-Suzanne Tews · C. Preusse · Cornelia Penski · Maika Dunst · Joachim Weis · Werner Stenzel · Michel Mittelbronn · Michel Mittelbronn
Myasthenia gravis and congenital myasthenic syndromes in dogs and cats: A history and mini-review G. Diane Shelton · G. Diane Shelton
212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015 M. Saunier · Carsten G. Bönnemann · Madeleine Durbeej · V. Allamand · V. Allamand
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations Kohei Hamanaka · Kanako Goto · Mami Arai · Koji Nagao · Chikashi Obuse · S. Noguchi · Yukiko K. Hayashi · Satomi Mitsuhashi · Ichizo Nishino · Ichizo Nishino
Suspected acute myocardial infarction in a dystrophin-deficient dog Sarah Morar Schneider · Amanda Erickson Coleman · Lee-Jae Guo · Sandra P. Tou · Bruce W. Keene · Joe N. Kornegay · Joe N. Kornegay
Corrigendum toDevelopment and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)[Neuromuscular Disorders 25 (2015) 937–944] Erik Landfeldt · Anna Mayhew · Michelle Eagle · Peter Lindgren · Christopher F. Bell · M. Guglieri · Volker Straub · Hanns Lochmüller · K. Bushby · K. Bushby
Normalization of sonographical multifocal nerve enlargements in a MADSAM patient following a good clinical response to intravenous immunoglobulin Kanta Tanaka · Natsuko Ota · Yuzuru Harada · Ikko Wada · Toshihiko Suenaga · Toshihiko Suenaga
215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands Teresinha Evangelista · Conrad C. Weihl · Virginia E. Kimonis · Hanns Lochmüller · Christoph S. Clemen · Ray Deshaies · Bruno Eymard · Linda Greensmith · David Hilton-Jones · Rudy Kley · Hemmo Meyer · Tahseen Mozaffar · S. Noguchi · Stuart H. Ralston · Basil Ridha · Bjarne Udd · Conrad C. Weihl · Matthias Brumhard · Sarah Brumhard · Sarah Brumhard
Corrigendum toClinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations: [Neuromuscular Disorders 26/4–5 (2016) 300–308] Kohei Hamanaka · Kanako Goto · Mami Arai · Koji Nagao · Chikashi Obuse · S. Noguchi · Yukiko K. Hayashi · Satomi Mitsuhashi · Ichizo Nishino · Ichizo Nishino
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies R. Scalco · R. Scalco · A Gardiner · R.D.S. Pitceathly · R.D.S. Pitceathly · David Hilton-Jones · A. H. V. Schapira · Chris Turner · Matt Parton · M. Desikan · Rita Barresi · Rita Barresi · Julie Marsh · Adnan Y. Manzur · Anne-Marie Childs · L. Feng · Elaine Murphy · Phillipa Lamont · Gianina Ravenscroft · William Wallefeld · Mark R. Davis · Nigel G. Laing · Janice L. Holton · D. Fialho · Kate Bushby · Michael G. Hanna · Rahul Phadke · Rahul Phadke · Heinz Jungbluth · Heinz Jungbluth · Henry Houlden · R. Quinlivan · R. Quinlivan · R. Quinlivan
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III Valérie Decostre · P. Laforêt · Aleksandra Nadaj-Pakleza · Marie De Antonio · Sylvain Leveugle · Gwenn Ollivier · Aurélie Canal · Kahina Kachetel · François Petit · Bruno Eymard · Anthony Behin · Karim Wahbi · Philippe Labrune · Jean-Yves Hogrel · Jean-Yves Hogrel
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene Andreas Ferbert · A. Zibat · B. Rautenstrauß · Wolfram Kress · M. Hügens-Penzel · Joachim Weis · Y. Shah · C. Roth · C. Roth
Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease Barbara Perniconi · Daniele Vauthier-Brouzes · Capucine Morélot-Panzini · Marc Dommergues · Jacky Nizard · Nadjib Taouagh · Jean-Yves Hogrel · Aurélie Canal · Laurent Servais · P. Laforêt · P. Laforêt
Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy Joseph K. Burns · Joseph K. Burns · Rashmi Kothary · Robin J. Parks · Robin J. Parks
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2 Christeen Ramane J. Pedurupillay · Christeen Ramane J. Pedurupillay · Silja S. Amundsen · Tuva Barøy · Tuva Barøy · Magnhild Rasmussen · Anne Blomhoff · Barbro Stadheim · Kristin Ørstavik · Asbjørn Holmgren · Tahir Iqbal · Eirik Frengen · Eirik Frengen · Doriana Misceo · Doriana Misceo · Petter Strømme · Petter Strømme · Petter Strømme
Congenital fiber type disproportion myopathy and novel compound heterozygous mutations in the RYR1 gene. Next generation sequencing – A first line diagnostic tool for congenital myopathy Damien Bachasson · G. Dubois · Olivier Benveniste · Jean-Yves Hogrel · Jean-Yves Hogrel
Awareness and utilization of the Hammersmith Functional Motor Scale – Expanded (HFMSE): A survey Julien Ochala · Paul Gregorevic · Paul Gregorevic
Lower muscle stiffness assessed with supersonic shear imaging is associated with more severe muscle impairments in patients with sporadic inclusion body myositis M. Carneiro · C. Iwabe-Marchese · M. Martins · C. Martins · I. Faber · A. Martinez · Luciano de Souza Queiroz · A. Nucci · Marcondes C. França · Marcondes C. França
Serum biomarker discovery for congenital muscular dystrophies C. Ortez · C. Jou · J. Campistol · A. Nascimento · C. Jimenez-Mallebrera · Ana Töpf · K. Johnson · Volker Straub · A. Codina · J. Corbera · J. Colomer · J. Colomer
Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy N. Tawara · Satoshi Yamashita · M. Korogi · X. Zhang · T. Doki · Shunya Nakane · Yasushi Maeda · Yukio Ando · Yukio Ando
A novel MYH7 mutation causing the Laing distal myopathy in Andalucia D. Vlodavets · D. Reshetov · S. Artemieva · E. Litvinova · I. Shulyakova · O. Shidlovskaya · D. Kazakov · Elena Belousova · Elena Belousova
Effect of anti-cytosolic 5′-nucleotidase 1A (NT5C1A) antibody on cultured muscle cells and muscle fibers of mice Savina Tincheva · Bilyana Georgieva · Tihomir Todorov · Alexey Savov · Slavena Tsaneva · Ivan Litvinenko · Vanyo Mitev · Albena Todorova · Albena Todorova
Russian experience of DMD genetic database L. Phillips · Ana Töpf · K. Johnson · M. Bertoli · L. Xu · Monkol Lek · Kristl G. Claeys · P. Van den Bergh · John Vissing · J. Colomer · C. Wallgren-Patterson · A. Lopez de Munain · Juan J. Vílchez · Anna Kostera-Pruszczyk · Daniel G. MacArthur · Volker Straub · Volker Straub
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions S. Dunaway Young · Jacqueline Montes · Rachel Salazar · Allan M. Glanzman · Amy Pasternak · Janet Quigley · E. Ciurylo · Susan Riley · William B. Martens · Richard Gee · Tina Duong · Matthew Civitello · Claudia A. Chiriboga · Gihan Tennekoon · John W. Day · Richard S. Finkel · Basil T. Darras · D. C. De Vivo · D. C. De Vivo
Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing S. Bozgeyik · O. Yılmaz · I. Alemdaroglu · Haluk Topaloglu · A. Karaduman · A. Karaduman
Should motor function determine the timing of scoliosis surgery in spinal muscular atrophy Lotte Heutinck · Merel Jansen · Y. van den Elzen · D. van der Pijl · I. de Groot · I. de Groot
Does neck flexion muscle strength affect function status and performance in children with Duchenne muscular dystrophy Russell J. Butterfield · Diane M. Dunn · Ying Hu · Carsten G. Bönnemann · Robert B. Weiss · Robert B. Weiss

Corrigendum toCongenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up[Neuromuscular Disorders 28/4 (2018) 315–322]
Neuromuscular Disorders | 2018
José Manuel Pardal-Fernández · María Carmen Carrascosa-Romero · S. Álvarez · M.C. Medina-Monzón · M. Bengoa Caamaño · C. de Cabo · C. de Cabo
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant
Neuromuscular Disorders | 2018
A.M. Khan · T. Sultan · Y. Kriouile · M. Pipis · J. Vandrovcova · H. Tariq · S. Efthymiou · V. Salpietro · M.M. Reilly · Henry Houlden · Henry Houlden
Novel valosin-containing protein mutations associated with multisystem proteinopathy
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B. O’Callaghan · Michael G. Hanna · J.E. Morgan · H. Houlden · M. Madej · M. Madej
Correlation between flow cytometry, histology and genetic findings for the diagnosis of collagen VI-related myopathies
Neuromuscular Disorders | 2018
Richard Webster · A. Vanhaesebrouck · Susan Maxwell · Judy Cossins · D.M.W. Beeson · D.M.W. Beeson
In vitro modelling of mitochondrial disease using human induced pluripotent stem cell (hIPSC) derived myotubes harbouring mtDNA mutations
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Giulia Ferrari · H. Hoshiya · Martina Ragazzi · T. Casteels · S.M. Maffioletti · Narumi Uno · Yasuhiro Kazuki · Francesco Muntoni · Mitsuo Oshimura · Francesco Saverio Tedesco · Francesco Saverio Tedesco
Evaluating the 12-minute walk test in McArdle disease
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Caitlin S. Latimer · Jennifer Schleit · Adam Reynolds · Desiree A. Marshall · Benjamin Podemski · Leo H. Wang · Luis F. Gonzalez-Cuyar · Luis F. Gonzalez-Cuyar
Determination of the minimal clinically important difference (MCID) for clinical trial outcome measures in Duchenne Muscular Dystrophy (DMD)
Neuromuscular Disorders | 2018
K. Thompson · N. Mai · M. Oláhová · F. Scialo · L.E. Formosa · D.A. Stroud · M. Garett · N.Z. Lax · C. Jou · A. Nascimento · C. Ortez · C. Jimenez-Mallabrera · Steven A. Hardy · Langping He · Garry K. Brown · P. Marttinen · Robert McFarland · A. Sanz · B.J. Battersby · P.E. Bonnen · M.T. Ryan · Zofia M.A. Chrzanowska-Lightowlers · Robert N. Lightowlers · Robert W. Taylor · Robert W. Taylor
Profile of circadianly regulated metabolic genes in dystrophic heart
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Claire Delbridge · Matthias Türk · Abbas Agaimy · Martin Winterholler · Rolf Schröder · Rolf Schröder
Genetic investigation of inherited neuropathy in families from Middle East using next generation sequencing
Neuromuscular Disorders | 2018
T.L.E. van Westering · Anna M.L. Coenen-Stass · Margriet Hulsker · Annemieke Aartsma-Rus · Matthew J.A. Wood · M. van Putten · Thomas C. Roberts · Thomas C. Roberts
RNA toxicity versus GSK3B dysfunction in myotonic dystrophy type 1: an exploratory review of the literature
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Extracellular myomiR abundance is not clearly correlated with skeletal muscle dystrophin expression in mdx mice with skewed X-chromosome inactivation
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Do diverse Charcot-Marie-Tooth disease-causing mutations show convergent disease pathomechanisms? Investigation of mitochondrial dysfunction in CMT
Neuromuscular Disorders | 2018
M. Oláhová · J. Collier · J. Heidler · K. Thompson · Robert N. Lightowlers · Zofia M.A. Chrzanowska-Lightowlers · I. Wittig · Robert W. Taylor · Robert W. Taylor
CRISPR/Cas9-mediated knockout of RTN4IP1 leads to a severe Complex I assembly defect
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Myostatin is a reliable biomarker for monitoring drug response in DMD
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