Neuromuscular Disorders
Standard Journal Abbreviation (ISO4)

Neuromuscular Disorders
Standard Abbreviation

ISO4 Standard

Neuromuscul. Disord.


Neuromuscular Disorders
Abbreviated Title Table
Full Journal Title Journal Abbreviation
Full Journal Title Journal Abbreviation
Neuromuscular Disorders
  • Neuromuscul. Disord.
  • NEUROMUSCULAR DISORD
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    Abbreviation of Neuromuscular Disorders

    The ISO4 abbreviation of Neuromuscular Disorders is Neuromuscul. Disord. . It is the standardised abbreviation to be used for abstracting, indexing and referencing purposes and meets all criteria of the ISO 4 standard for abbreviating names of scientific journals.

    ISO4 Abbreviation of Neuromuscular Disorders

    (Information and documentation – Rules for the abbreviation of title words and titles of publications) is an international standard, defining a uniform system for the abbreviation of serial publication titles. One major use of ISO 4 is to abbreviate the names of scientific journals. The International Organization for Standardization (ISO) has appointed the ISSN International Centre as the registration authority for ISO 4. It maintains the containing standard abbreviations for words commonly found in serial titles. LTWA includes more than 56,000 words and their abbreviations in 65 languages. In conclusion, under ISO 4 standards, the Neuromuscular Disorders should be cited as Neuromuscul. Disord. for abstracting, indexing and referencing purposes.

    The ISO4 abbreviation of Neuromuscular Disorders is 
                                        Neuromuscul. Disord.
                                    .
    Neuromuscular Disorders
    Journal Profile
    Neuromuscular Disorders | Academic Accelerator - About the Journal

    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
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    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
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    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
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    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
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