Neuromuscular Disorders
Journal Impact IF - Analysis · Trend · Prediction · Ranking


Journal Impact IF




Journal Impact IF Trend

Related Journals

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Neuromuscular Disorders

The 2019-2020 Journal Impact IF of Neuromuscular Disorders is 3.115, which is just updated in 2020.

Neuromuscular Disorders Impact Factor
Highest IF
Highest Journal Impact IF

The highest Journal Impact IF of Neuromuscular Disorders is 3.464.

Lowest IF
Lowest Journal Impact IF

The lowest Journal Impact IF of Neuromuscular Disorders is 2.487.

Total Growth Rate
IF Total Growth Rate

The total growth rate of Neuromuscular Disorders IF is 11.4%.

Annual Growth Rate
IF Annual Growth Rate

The annual growth rate of Neuromuscular Disorders IF is 1.3%.

Journal Impact IF Ranking

Subcategory Quartile Rank Percentile
Genetics (clinical) Q2 44/90

Genetics (clinical) 51%

Neurology (clinical) Q2 107/348

Neurology (clinical) 69%

Pediatrics, Perinatology and Child Health Q1 38/286

Pediatrics, Perinatology and Child Health 86%

Neurology Q2 61/155

Neurology 60%

Journal Impact IF Ranking

· In the Genetics (clinical) research field, the Quartile of Neuromuscular Disorders is Q2. Neuromuscular Disorders has been ranked #44 over 90 related journals in the Genetics (clinical) research category. The ranking percentile of Neuromuscular Disorders is around 51% in the field of Genetics (clinical).
· In the Neurology (clinical) research field, the Quartile of Neuromuscular Disorders is Q2. Neuromuscular Disorders has been ranked #107 over 348 related journals in the Neurology (clinical) research category. The ranking percentile of Neuromuscular Disorders is around 69% in the field of Neurology (clinical).
· In the Pediatrics, Perinatology and Child Health research field, the Quartile of Neuromuscular Disorders is Q1. Neuromuscular Disorders has been ranked #38 over 286 related journals in the Pediatrics, Perinatology and Child Health research category. The ranking percentile of Neuromuscular Disorders is around 86% in the field of Pediatrics, Perinatology and Child Health.
· In the Neurology research field, the Quartile of Neuromuscular Disorders is Q2. Neuromuscular Disorders has been ranked #61 over 155 related journals in the Neurology research category. The ranking percentile of Neuromuscular Disorders is around 60% in the field of Neurology.

Neuromuscular Disorders Impact Factor 2020-2021 Prediction

Neuromuscular Disorders Impact Factor Predition System

Neuromuscular Disorders Impact Factor Prediction System is now online. You can start share your valuable insights with the community.

Predict Check All Preditions
Total Publications
Total Citations

Annual Publication Volume

Annual Citation Record

International Collaboration Trend

Cited Documents Trend

Journal Impact IF History

Year Journal Impact IF
Year Journal Impact IF
2019-2020 3.115
2018-2019 2.612
2017-2018 2.487
2016-2017 2.969
2015-2016 3.107
2014-2015 2.638
2013-2014 3.134
2012-2013 3.464
2011-2012 2.797
Journal Impact IF History

· The 2019-2020 Journal Impact IF of Neuromuscular Disorders is 3.115
· The 2018-2019 Journal Impact IF of Neuromuscular Disorders is 2.612
· The 2017-2018 Journal Impact IF of Neuromuscular Disorders is 2.487
· The 2016-2017 Journal Impact IF of Neuromuscular Disorders is 2.969
· The 2015-2016 Journal Impact IF of Neuromuscular Disorders is 3.107
· The 2014-2015 Journal Impact IF of Neuromuscular Disorders is 2.638
· The 2013-2014 Journal Impact IF of Neuromuscular Disorders is 3.134
· The 2012-2013 Journal Impact IF of Neuromuscular Disorders is 3.464
· The 2011-2012 Journal Impact IF of Neuromuscular Disorders is 2.797

Publications Cites Dataset

Year Publications Citations
Year Publications Citations
1982 0 1
1991 88 18
1992 75 144
1993 114 279
1994 187 418
1995 86 665
1996 365 853
1997 307 965
1998 75 1342
1999 86 1662
2000 104 1809
2001 121 1893
2002 188 2410
2003 121 2753
2004 144 2803
2005 142 3455
2006 386 3696
2007 579 4051
2008 501 4751
2009 500 4703
2010 502 5593
2011 581 6134
2012 609 6801
2013 496 7240
2014 682 7202
2015 613 8343
2016 588 6667
2017 872 7014
2018 389 6455
2019 694 6361
2020 281 8349
2021 17 608
Publications Cites Dataset

· The Neuromuscular Disorders has published 0 reports and received 1 citations in 1982.
· The Neuromuscular Disorders has published 88 reports and received 18 citations in 1991.
· The Neuromuscular Disorders has published 75 reports and received 144 citations in 1992.
· The Neuromuscular Disorders has published 114 reports and received 279 citations in 1993.
· The Neuromuscular Disorders has published 187 reports and received 418 citations in 1994.
· The Neuromuscular Disorders has published 86 reports and received 665 citations in 1995.
· The Neuromuscular Disorders has published 365 reports and received 853 citations in 1996.
· The Neuromuscular Disorders has published 307 reports and received 965 citations in 1997.
· The Neuromuscular Disorders has published 75 reports and received 1342 citations in 1998.
· The Neuromuscular Disorders has published 86 reports and received 1662 citations in 1999.
· The Neuromuscular Disorders has published 104 reports and received 1809 citations in 2000.
· The Neuromuscular Disorders has published 121 reports and received 1893 citations in 2001.
· The Neuromuscular Disorders has published 188 reports and received 2410 citations in 2002.
· The Neuromuscular Disorders has published 121 reports and received 2753 citations in 2003.
· The Neuromuscular Disorders has published 144 reports and received 2803 citations in 2004.
· The Neuromuscular Disorders has published 142 reports and received 3455 citations in 2005.
· The Neuromuscular Disorders has published 386 reports and received 3696 citations in 2006.
· The Neuromuscular Disorders has published 579 reports and received 4051 citations in 2007.
· The Neuromuscular Disorders has published 501 reports and received 4751 citations in 2008.
· The Neuromuscular Disorders has published 500 reports and received 4703 citations in 2009.
· The Neuromuscular Disorders has published 502 reports and received 5593 citations in 2010.
· The Neuromuscular Disorders has published 581 reports and received 6134 citations in 2011.
· The Neuromuscular Disorders has published 609 reports and received 6801 citations in 2012.
· The Neuromuscular Disorders has published 496 reports and received 7240 citations in 2013.
· The Neuromuscular Disorders has published 682 reports and received 7202 citations in 2014.
· The Neuromuscular Disorders has published 613 reports and received 8343 citations in 2015.
· The Neuromuscular Disorders has published 588 reports and received 6667 citations in 2016.
· The Neuromuscular Disorders has published 872 reports and received 7014 citations in 2017.
· The Neuromuscular Disorders has published 389 reports and received 6455 citations in 2018.
· The Neuromuscular Disorders has published 694 reports and received 6361 citations in 2019.
· The Neuromuscular Disorders has published 281 reports and received 8349 citations in 2020.
· The Neuromuscular Disorders has published 17 reports and received 608 citations in 2021.
· The total publications of Neuromuscular Disorders is 10493.
· The total citations of Neuromuscular Disorders is 115438.

What is Impact Factor?

The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly average number of citations of articles published in the last two years in a given journal. It is frequently used as a proxy for the relative importance of a journal within its field; journals with higher impact factor values are often deemed to be more important, or carry more intrinsic prestige in their respective fields, than those with lower values.

Neuromuscular Disorders | Academic Accelerator - About the Impact Factor

Impact factor is commonly used to evaluate the relative importance of a journal within its field and to measure the frequency with which the “average article” in a journal has been cited in a particular time period. Journal which publishes more review articles will get highest IFs. Journals with higher IFs believed to be more important than those with lower ones. According to Eugene Garfield “impact simply reflects the ability of the journals and editors to attract the best paper available.” Journal which publishes more review articles will get maximum IFs. The Impact Factor of an academic journal is a scientometric Metric that reflects the yearly average number of citations that recent articles published in a given journal received. It is frequently used as a Metric for the relative importance of a journal within its field; journals with higher Impact Factor are often deemed to be more important than those with lower ones. The Neuromuscular Disorders Impact Factor IF measures the average number of citations received in a particular year (2020) by papers published in the Neuromuscular Disorders during the two preceding years (2018-2019). Note that 2020 Impact Factor are reported in 2021; they cannot be calculated until all of the 2020 publications have been processed by the indexing agency. New journals, which are indexed from their first published issue, will receive an impact factor after two years of indexing; in this case, the citations to the year prior to Volume 1, and the number of articles published in the year prior to Volume 1, are known zero values. Journals that are indexed starting with a volume other than the first volume will not get an impact factor until they have been indexed for three years. Occasionally, Journal Citation Reports assigns an impact factor to new journals with less than two years of indexing, based on partial citation data. The calculation always uses two complete and known years of item counts, but for new titles one of the known counts is zero. Annuals and other irregular publications sometimes publish no items in a particular year, affecting the count. The impact factor relates to a specific time period; it is possible to calculate it for any desired period. In addition to the 2-year Impact Factor, the 3-year Impact Factor, 4-year Impact Factor, 5-year Impact Factor, Real-Time Impact Factor can provide further insights and factors into the impact of Neuromuscular Disorders.


The impact factor was devised by Eugene Garfield, the founder of the Institute for Scientific Information (ISI). Impact factors are calculated yearly starting from 1975 for journals listed in the Journal Citation Reports (JCR). ISI was acquired by Thomson Scientific & Healthcare in 1992, and became known as Thomson ISI. In 2018, Thomson ISI was sold to Onex Corporation and Baring Private Equity Asia. They founded a new corporation, Clarivate, which is now the publisher of the JCR.


The impact factor is used to compare different journals within a certain field. The Web of Science indexes more than 11,500 science and social science journals. Journal impact factors are often used to evaluate the merit of individual articles and individual researchers. This use of impact factors was summarised by Hoeffel:

Impact Factor is not a perfect tool to measure the quality of articles but there is nothing better and it has the advantage of already being in existence and is, therefore, a good technique for scientific evaluation. Experience has shown that in each specialty the best journals are those in which it is most difficult to have an article accepted, and these are the journals that have a high impact factor. Most of these journals existed long before the impact factor was devised. The use of impact factor as a measure of quality is widespread because it fits well with the opinion we have in each field of the best journals in our specialty....In conclusion, prestigious journals publish papers of high level. Therefore, their impact factor is high, and not the contrary.

Eugene Garfield

In brief, Impact factors may be used by:
  • Authors to decide where to submit an article for publication.
  • Libraries to make collection development decisions
  • Academic departments to assess academic productivity
  • Academic departments to make decisions on promotion and tenure.
As impact factors are a journal-level metric, rather than an article- or individual-level metric, this use is controversial. Garfield agrees with Hoeffel,but warns about the "misuse in evaluating individuals" because there is "a wide variation [of citations] from article to article within a single journal". Other things to consider about Impact Factors:
  • Many journals do not have an impact factor.
  • The impact factor cannot assess the quality of individual articles. Even if citations were evenly distributed among articles, the impact factor would only measure the interests of other researchers in an article, not its importance and usefulness.
  • Only research articles, technical notes and reviews are “citable” items. Editorials, letters, news items and meeting abstracts are “non-citable items”.
  • Only a small percentage of articles are highly cited and they are found in a small subset of journals. This small proportion accounts for a large percentage of citations.
  • Controversial papers, such as those based on fraudulent data, may be highly cited, distorting the impact factor of a journal.
  • Citation bias may exist. For example, English language resources may be favoured. Authors may cite their own work.
Moreover, informed and careful use of these impact data is essential, and should be based on a thorough understanding of the methodology used to generate impact factors. There are controversial aspects of using impact factors:
  • It is not clear whether the number of times a paper is cited measures its actual quality.
  • Some databases that calculate impact factors fail to incorporate publications including textbooks, handbooks and reference books.
  • Certain disciplines have low numbers of journals and usage. Therefore, one should only compare journals or researchers within the same discipline.
  • Review articles normally are cited more often and therefore can skew results.
  • Self-citing may also skew results.
  • Some resources used to calculate impact factors have inadequate international coverage.
  • Editorial policies can artificially inflate an impact factor.
Impact factors have often been used in advancement and tenure decision-making. Many recognize that this is a coarse tool for such important decisions, and that a multitude of factors should be taken into account in these deliberations. When considering the use of the impact factor (IF), keep these aspects in mind:
  • IF analysis is limited to citations from the journals indexed by the Web of Science/Web of Knowledge. Currently, the Web of Science indexes only 8621 journals across the full breadth of the sciences, and just 3121 in the social sciences.
  • A high IF/citation rate says nothing about the quality -- or even, validity -- of the references being cited. Notorious or even retracted articles often attract a lot of attention, hence a high number of citations. The notority related to the first publication on "cold fusion" is one such example.
  • Journals that publish more "review articles" are often found near the top of the rankings. While not known for publishing new, creative findings, these individual articles tend to be heavily cited.
  • The IF measures the average number of citations to articles in the journal -- given this, a small number of highly-cited articles will skew the figure.
  • It takes several years for new journals to be added to the list of titles indexed by the Web of Science/Web of Knowledge, so these newer titles will be under-represented.
  • It's alleged that journal editors have learned to "game" the system, encouraging authors to cite their works previously published in the same journal.
Comparing Journals Across Disciplines? Not a good idea! Using Impact Factors within a given discipline should only be done with great care, as described above. Using impact factor data to compare journals across disciplines is even more problematic. Here are some of the reasons:
  • Disciplines where older literature is still referenced, such as Chemistry and Mathematics, offer challenges to the methodolgy since older citations (older than two years) are not used to calculate the impact factor for a given journal. (Five-year impact factor analysis, which can be calculated using the Journal Citation Index database, helps smooth out this problem only to some degree.)
  • Different disciplines have different practices regarding tendency to cite larger numbers of references. Higher overall citation rates will bump upward impact factor measurements.
  • Where it's common for large numbers of authors to collaborate on a single paper, such as in Physics, the tendency of authors to cite themselves (and in this case, more authors) will result in increased citation rates.

Pros and Cons of the Impact Factor


  • A vetted, established metric for measuring journal impact within a discipline.
  • Designed to eliminate bias based on journal size and frequency.
  • Individual articles makes an uneven contribution to overall Impact Factor.
  • Impact Factor does not account for certain things, things like context (postive or negative citaion) and intentionality (self-citation).
  • The metric is proprietary to and bound by the contents of the Thomson Reuters database.
  • Citations, on which the Impact Factor is based, count for less than 1% of an article's overall use.


Numerous critiques have been made regarding the use of impact factors. A 2007 study noted that the most fundamental flaw is that impact factors present the mean of data that are not normally distributed, and suggested that it would be more appropriate to present the median of these data. There is also a more general debate on the validity of the impact factor as a measure of journal importance and the effect of policies that editors may adopt to boost their impact factor (perhaps to the detriment of readers and writers). Other criticism focuses on the effect of the impact factor on behavior of scholars, editors and other stakeholders. Others have made more general criticisms, arguing that emphasis on impact factor results from negative influence of neoliberal policies on academia claiming that what is needed is not just replacement of the impact factor with more sophisticated metrics for science publications but also discussion on the social value of research assessment and the growing precariousness of scientific careers in higher education.
Experts stress that there are limitations in using impact factors to evaluate a scholar's work. There are many reasons cited for not relying on impact factor alone to evaluate the output of a particular individual. Among these are the following:

  • A single factor is not sufficient for evaluating an author's work.
  • Journal values are meaningless unless compared within the same discipline. Impact factors vary among disciplines.
  • The impact factor was originally devised to show the impact of a specific journal, not a specific scholar. The quality and impact of the author's work may extend beyond the impact of a particular journal.
According to Jim Testa, a researcher for ThomsonReuters Scientific, the most widespread misuse of the Impact Factor is to evaluate the work of an individual author (instead of a journal). "To say that because a researcher is publishing in a certain journal, he or she is more influential or deserves more credit is not necessarily true. There are many other variables to consider." (interview 6/26/2008 in Thomson Reuters blog entry)

Neuromuscular Disorders
Journal Profile


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


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)
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.

Elsevier Ltd.

Neuromuscular Disorders is published by Elsevier Ltd. .

Publication Frequency
Publication Frequency

Neuromuscular Disorders publishes reports - .

1991 - Present

The Publication History of Neuromuscular Disorders covers 1991 - Present .

Open Access
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.


The language of Neuromuscular Disorders is - .

United Kingdom

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
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
MITOCHONDRIAL DISEASES (Posters) Vivienne Travlos · Jenny Downs · Andrew C. Wilson · Dana Hince · Shane Patman · Shane Patman
GsMTx4-D provides protection to the D2.mdx mouse J. García-García · M.A. Fernández-García · P. Blanco-Arias · M.I. Díaz-Maroto-Cicuendez · F. Salmerón-Martínez · V.M. Hidalgo-Olivares · M. Olivé · M. Olivé
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report Miguel Oliveira Santos · Teresinha Evangelista · Isabel Conceição · Isabel Conceição
Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats Maria Carmela Pera · Marco Luigetti · Serena Sivo · Leonardo Lapenta · Giuseppe Granata · Laura Antonaci · Giorgia Coratti · Nicola Forcina · Marika Pane · Eugenio Mercuri · Eugenio Mercuri
Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation B. Schoser · B. Schoser
Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy K. Ishiguro · T. Nakayama · Masaru Yoshioka · T. Murakami · S. Kajino · M. Shichiji · T. Sato · Naomi Hino-Fukuyo · Satoshi Kuru · Makiko Osawa · Satoru Nagata · Mariko Okubo · Nobuyuki Murakami · Yukiko K. Hayashi · Ichizo Nishino · K. Ishigaki · K. Ishigaki
Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy K. Ishigaki · Chikoto Ihara · Harumasa Nakamura · Madoka Mori-Yoshimura · Kazushi Maruo · Mariko Taniguchi-Ikeda · En Kimura · T. Murakami · T. Sato · Tatsushi Toda · Hisanobu Kaiya · M. Osawa · M. Osawa
Self-diagnosis of a triple trouble Libby Wood · Guillaume Bassez · B.G.M. van Engelen · Arend Heerschap · Hanns Lochmüller · Benedikt Schoser · Benedikt Schoser
Characteristic findings of skeletal muscle MRI in caveolinopathies Giuseppe Fiorentino · Antonio M. Esquinas · Antonio M. Esquinas
DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS Leonela N. Luce · Micaela Carcione · Chiara Mazzanti · Marcela Ferrer · Irene Szijan · Florencia Giliberto · Florencia Giliberto
Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis Corrado Angelini · R. Marozzo · V. Pegoraro · V. Pegoraro
Role of neuronal nitric oxide synthase (nNOS) in Duchenne and Becker muscular dystrophies – Still a possible treatment modality? C. Iwabe-Marchese · N. Morini · c. Sanches · T. Rosa · T. Rosa
Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne/Becker muscular dystrophies cohort Susan D. Apkon · J. Weaver · N. Natarajan · Dennis W. W. Shaw · K. Koo · G. Shivaram · E. Monroe · E. Monroe
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES M. Goddard · B. Drayton · F. Piétri-Rouxel · F. Relaix · F. Relaix
MITOCHONDRIAL DISEASES (Posters) M. Garcia Erro · E. Cavassa · J. Muntadas · M. Pauni · G. Vazquez · G. Vazquez
LIMB-GIRDLE MUSCULAR DYSTROPHY I M. Martínez-Jalile · A. Lozano-Arango · C. Diemer · B. Suárez · K. Alvarez · C. Castiglioni · C. Castiglioni
DMD TREATMENT: ANIMAL MODELS T. Johnston · K. Hor · May Ling Mah · L. Cripe · L. Cripe
CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA H. Gonorazky · S. Naumenko · D. Kao · P. Mashouri · A. Ramani · Katherine D. Mathews · M. Tarnopolsky · S. Moore · M. Brudno · James J. Dowling · James J. Dowling
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
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
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
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
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: 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
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 Leonela N. Luce · M. Carcione · C. Mazzanti · L. Mesa · A. Dubrovsky · Florencia Giliberto · Florencia Giliberto
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
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
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
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
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
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
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
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
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
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
SMA THERAPIES II AND BIOMARKERS R. de Meel · K. Keene · Martijn R. Tannemaat · Jan J. Verschuuren · Jan J. Verschuuren
Mental wellbeing in non-ambulant youth with neuromuscular disorders: what makes the difference? D. Natera de Benito · A. Frongia · M. Alarcon · A. Borrás · J. Armas · J. Exposito · L. Carrera · L. Martorell · D. Moya · N. Padros · S. Roca · M. Vigo · J. Medina · J. Colomer · C. Ortez · A. Nascimento · A. Nascimento
CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA A. Filipe · E. Varone · S. Arbogast · A. Chernorudskiy · D. Pozzer · R. Villar · C. Dill · S. Dudhal · S. Fumagalli · M. De Simoni · Matteo Giovarelli · C. De Palma · P. Pinton · C. Giorgi · Emilio Clementi · S. Missiroli · S. Boncompagni · E. Zito · A. Ferreiro · A. Ferreiro
MITOCHONDRIAL DISEASES I (Oral) H.A. van Duyvenvoorde · D. van Heusden · Mariëtte J.V. Hoffer · H.B. Ginjaar · H.B. Ginjaar
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES J. Karafilidis · O. Mayer · B. Griffin · K. Higgins · K. Higgins
NEW INSIGHTS INTO CELLULAR FUNCTIONS D. Bachasson · J. Mosso · B. Marty · P. Carlier · J.Y. Hogrel · J.Y. Hogrel
DUCHENNE MUSCULAR DYSTROPHY - GENETICS Julia R. Dahlqvist · N. Poulsen · S. Oestergaard · Freja Fornander · A. Eisum · C. Thomsen · J. Vissing · J. Vissing
DUCHENNE MUSCULAR DYSTROPHY – CLINICAL E. O’Connor · I. Cordts · Andreas Roos · Hanns Lochmüller · Hanns Lochmüller
FSHD / OPMD / EDMD / DMI Sean C. Forbes · Rebecca J. Willcocks · William Triplett · H. Arora · William D. Rooney · Dah Jyuu Wang · Michael J. Daniels · Erika L. Finanger · R. Finkel · Gihan Tennekoon · H.L. Sweeney · Glenn A. Walter · Krista Vandenborne · Krista Vandenborne
FSHD / OPMD / EDMD / DMI Matthias Baumann · Christiane Gumpold · Wolfgang Mueller-Felber · Benedikt Schoser · Christine Haberler · Wolfgang Loescher · Kevin Rostasy · Michael B. Fischer · Julia Wanschitz · Julia Wanschitz
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study Jr. Hogrel · C. Chéraud · I. Ledoux · G. Ollivier · R. Ben Yaou · F. Leturcq · Anthony Behin · Tanya Stojkovic · Bruno Eymard · P. Laforêt · P. Laforêt
Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation Pedro J. Tomaselli · Pedro J. Tomaselli · Alejandro Horga · Alexander M. Rossor · Zane Jaunmuktane · Andrea Cortese · Julian Blake · Natalia Zárate-Lopez · Henry Houlden · Mary M. Reilly · Mary M. Reilly
222nd ENMC International Workshop: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016 Markus Schuelke · Michael Schwarz · Werner Stenzel · Hans H. Goebel · Hans H. Goebel
Mitophagy in three cases of immune-mediated necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies: ultrastructural and immunohistochemical studies Giulia Ricci · Sigrid Baldanzi · Fabrizio Seidita · Chiara Proietti · Francesca Carlini · Silvia Peviani · Giovanni Antonini · Andrea Vianello · Gabriele Siciliano · Olimpia Musumeci · Antonio Toscano · Sabrina Ravaglia · M. Moggio · Giacomo P. Comi · Elena Pegoraro · Massimiliano Filosto · Giovanni Marrosu · Lorenzo Maggi · Rocco Liguori · Roberto Massa · G. Di Iorio · Serenella Servidei · C. Angelini · T. Mongini · T. Mongini
National registry of patients with Fukuyama congenital muscular dystrophy in Japan Annegret Quade · Joachim Weis · Ingo Kurth · Roman Rolke · Marion Bienert · Simone Schrading · Dorothea Rohrmann · Zafer Yüksel · Martin Häusler · Martin Häusler
Breathe Duchenne: what natural history studies tell us about the progression of pulmonary morbidity in DMD Shuko Joseph · Cunyi Wang · Marina DiMarco · Iain Horrocks · Ishaq Abu-Arafeh · Alex Baxter · Nuno Cordeiro · Linda McLellan · Kenneth McWilliam · Karen Naismith · Elma Stephen · S Faisal Ahmed · Sze Choong Wong · Sze Choong Wong
METABOLIC MYOPATHIES II Katsuhisa Ogata · M. Kosuga · E. Takeshita · Tsuyoshi Matsumura · K. Ishigaki · S. Ozasa · H. Arahata · K. Sugie · Toshiaki Takahashi · Satoshi Kuru · M. Kobayashi · H. Takada · A. Hattori · M. Takahashi · N. Tanaka · T. Kimura · M. Funato · T. Okuyama · Hirofumi Komaki · Hirofumi Komaki
A mobile app for patients with Pompe disease and its possible clinical applications Gerta Vrbová · Urszula Sławińska · Urszula Sławińska
Normalization of connexin 43 protein levels prevents cellular and functional signs of dystrophic cardiomyopathy in mice Libby Wood · Guillaume Bassez · Baziel G.M. van Engelen · Hanns Lochmüller · Benedikt Schoser · Benedikt Schoser
Giovanni Nigro 1931–2017 Elizabeth M. van der Pijl · Maaike van Putten · Erik H. Niks · Jan J. Verschuuren · Annemieke Aartsma-Rus · Jaap J. Plomp · Jaap J. Plomp
Critical period of neuromuscular development: Importance for a new treatment of SMA Antonio Gallo · Alon Abraham · Hans D. Katzberg · Suganthini Ilaalagan · Vera Bril · Ari Breiner · Ari Breiner
222 Nd ENMC international workshop: myotonic dystrophy, developing a european consortium for care and therapy, 1-2 july 2016, naarden, The Netherlands Kevin J. Felice · Charles H. Whitaker · Qian Wu · Qian Wu
Low dystrophin levels are insufficient to normalize the neuromuscular synaptic abnormalities of mdx mice Yang Xu · Qinglin Kang · Zhen-Lin Zhang · Zhen-Lin Zhang
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers Mauro Scarpelli · Lidia Carreño-Gago · Anna Russignan · Noemi de Luna · Clara Carnicer-Cáceres · Alessandra Ariatti Lorenzo · Verriello Grazia Devigili · Paola Tonin · Elena García-Arumí · Tomàs Pinós · Tomàs Pinós
A MYH3 mutation was identified for the first time in a chinese family with sheldon-hall syndrome (DA2B) F.G.I. Jennekens · Marianne de Visser · Marianne de Visser
Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants M. Keßler · A. Kieltsch · E. Kayvanpour · H.A. Katus · Benedikt Schoser · Joachim Schessl · S. Just · Wolfgang Rottbauer · Wolfgang Rottbauer
Novel mt-tRNA mutations in mitochondrial myopathies Annarita Ghosh Andersen · Freja Fornander · Henrik Daa Schrøder · Thomas Krag · Volker Straub · Morten Duno · John Vissing · John Vissing
Obituary – Professor Jaap Bethlem (1924–2017) K. Hor · May Ling Mah · Pace Johnston · Timothy P. Cripe · L. Cripe · L. Cripe
A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations P. Carbonell-Corvillo · E. Tristán-Clavijo · Macarena Cabrera-Serrano · Macarena Cabrera-Serrano · E. Servián-Morilla · G. García-Martín · L. Villarreal-Pérez · E. Rivas-Infante · E. Area-Gómez · M.I. Chamorro-Muñoz · A. Gil-Gálvez · A. Miranda-Vizuete · A. Martinez-Mir · Nigel G. Laing · Carmen Paradas · Carmen Paradas
BAG3 myopathy is not always associated with cardiomyopathy M.J. Damen · A. F. G. van der Meer · Nicol C. Voermans · Alide A. Tieleman · Alide A. Tieleman
Advances in the diagnosis and management of cardiomyopathy in Duchenne muscular dystrophy Florian Barthelemy · Nicolas Wein · Nicolas Wein · Nicolas Wein
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain Sophelia Chan · Nens van Alfen · Inger Johanne Thuestad · Janice Ip · Angel On-Kei Chan · Christopher Chun Yu Mak · Brian Hon-Yin Chung · Aad Verrips · Erik-Jan Kamsteeg · Erik-Jan Kamsteeg
Graves disease and celiac disease in a patient with myotonic dystrophy type 2 L. Gonzalez-Quereda · Eduard Gallardo · Ana Töpf · Alicia Alonso-Jimenez · Volker Straub · M. Rodriguez · Cinta Lleixà · Isabel Illa · P. Gallano · Jordi Díaz-Manera · Jordi Díaz-Manera
Personalized gene and cell therapy for Duchenne Muscular Dystrophy Christopher W. Ward · Frederick Sachs · Ernest D. Bush · Thomas M. Suchyna · Thomas M. Suchyna
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality Simona Fecarotta · V. Gragnaniello · R. Della Casa · Alfonso Romano · E. Raiano · A. Torella · M. Savarese · V. Nigro · Pietro Strisciuglio · Generoso Andria · Giancarlo Parenti · Giancarlo Parenti
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement Frédéric Lofaso · Hélène Prigent · Djillali Annane · David Orlikowski · Karim Wahbi · P. Laforêt · Bruno Eymard · Tanya Stojkovic · Anthony Behin · Ghilas Boussaïd · Ghilas Boussaïd
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
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
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
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
MITOCHONDRIAL DISEASES I (Oral) M. De Antonio · Céline Dogan · D. Hamroun · A. Geille · Bruno Eymard · Guillaume Bassez · Guillaume Bassez
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
P.148 - A case of caveolinopathy presenting as the mounding muscle disease Niklas Darin · Carola Hedberg-Oldfors · Anna-Karin Kroksmark · Ali-Reza Moslemi · Gittan Kollberg · Anders Oldfors · Anders Oldfors
Application of a CRISPR/Cas9 gene editing therapy in a novel humanized dystrophic mouse model of Duchenne muscular dystrophy L. Nastase · M. Desikan · S. Price · F. Crummy · J. Kahn · R. Quinlivan · R. Quinlivan
P.71 - Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1 J. Mecca · S. Astord · T. Marais · F. Relaix · N. Didier · Martine Barkats · Martine Barkats
P.10 - Analysis of mortality in a cohort of adult Duchenne muscular dystrophy Kate Carroll · Jennifer L. McGinley · Kade L. Paterson · Monique M. Ryan · R. Kennedy · R. Kennedy
P.131 - Role of muscle satellite cells in Spinal muscular atrophy physiopathology S. Monges · F. Lubieniecki · C. Paz Vargas Leal · F. de Castro · V. Aguerre · J. Mozzoni · E. Foncuberta · N. Monnier · J. Böhm · J. Laporte · E. Malfatti · M. Sacolitti · A. Taratuto · Norma Alicia Ruvalcaba Romero · Norma Alicia Ruvalcaba Romero
Imaging of respiratory muscles in neuromuscular disease: A review Sucharita Ray · Deepti Vibha · Gauri Gupta · Kameshwar Prasad · Achal Ku Srivastava · Garima Shukla · Garima Shukla
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant Ernestina Santos · António Braga · Denis Gabriel · Sara Duarte · Ana Martins da Silva · Ilda Matos · Marta Freijo · João Martins · Fernando Ricardo Xavier da Silveira · Goreti Nadais · Filipa Sousa · Carla Fraga · Rosa Santos Silva · Carlos Lopes · Guilherme Gonçalves · Clara Pinto · Jorge Braga · M I Leite · M I Leite
Severe persistent injection site reactions after subcutaneous 2′-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy Oksana Pogoryelova · Phillip Cammish · Hank Mansbach · Zohar Argov · Ichizo Nishino · Alison Skrinar · Yiumo Chan · Shahriar Nafissi · Hosein Shamshiri · Emil Kakkis · Hanns Lochmüller · Hanns Lochmüller
Concurrent ophthalmoplegia due to thyrotoxicosis and myasthenia: catching two birds in the bush Stephanie Carr · M. Ritso · T. Brand · Andreas Roos · K. Lorenz · Hanns Lochmüller · Hanns Lochmüller
MuSK myasthenia gravis and pregnancy Richard S. Finkel · Eugenio Mercuri · Oscar H. Meyer · Mary K. Schroth · Robert J. Graham · Janbernd Kirschner · Susan T. Iannaccone · Susan T. Iannaccone · Thomas O. Crawford · Simon Woods · Francesco Muntoni · Brunhilde Wirth · Jacqueline Montes · M. Main · E. Mazzone · Michael G. Vitale · Brian D. Snyder · Susana Quijano-Roy · Enrico Bertini · Rebecca Hurst Davis · Ying Qian · Thomas Sejersen · Thomas Sejersen
Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion Paulo Victor Sgobbi de Souza · Thiago Bortholin · Fernando George Monteiro Naylor · Wladimir Bocca Vieira de Rezende Pinto · Acary Souza Bulle Oliveira · Acary Souza Bulle Oliveira
Studying mdx cardiomyocyte hypertrophy in vitro N. Nikolenko · A.C. Jimenez-Moreno · T. Gomes · Libby Wood · D. Moat · J. Newman · R. Fernandez-Torrón · A. Roos · A. Atalaia · Darren G. Monckton · Chris Turner · Hanns Lochmüller · Hanns Lochmüller
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics M. James · A. Mayhew · M. Eagle · U. Moore · R. Muni Lofra · H. Hilsden · K. Bettinson · Elizabeth Harris · Volker Straub · K. Bushby · K. Bushby
Myotonic dystrophy trial readiness Laura Ludovica Gramegna · Maria Pia Giannoccaro · David Neil Manners · Claudia Testa · Stefano Zanigni · Stefania Evangelisti · Claudio Bianchini · Federico Oppi · Roberto Poda · Patrizia Avoni · Raffaele Lodi · Rocco Liguori · Caterina Tonon · Caterina Tonon
Posters and Platform Presentations: DystrophyD20 - Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy Megan A. Waldrop · Megan A. Waldrop · Felecia Gumienny · Saleh El Husayni · Diane E. Frank · Robert B. Weiss · Kevin M. Flanigan · Kevin M. Flanigan · Kevin M. Flanigan
226th ENMC International Workshop: . Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands E. O’Connor · I. Cordts · Andreas Roos · Hanns Lochmüller · Hanns Lochmüller
Corrigendum to22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd–7th October 2017[Neuromuscular Disorders 27S2 (2017) S51–S270] M. Toussaint · M. Chatwin · J. Gonzalez · D.J. Berlowitz · D.J. Berlowitz
NG.I.4 - AAV-mediated gene therapy in central nervous system of dystrophin-Dp71 deficient mouse Carmen Palma · Carmen Prior · Clara Gómez-González · Carlos Rodríguez-Antolin · Paloma Martínez-Montero · Lucía Pérez de Ayala · Samuel I. Pascual · Jesús Molano Mateos · Jesús Molano Mateos
P.292 - Novel homozygous recessive MYH2 variant associated with an autosomal dominant clinical pathological phenotype Florian Brackmann · Matthias Türk · Nils Gratzki · Oliver Rompel · Heinz Jungbluth · Heinz Jungbluth · Heinz Jungbluth · Rolf Schröder · Regina Trollmann · Regina Trollmann
P.327 - Integrated analysis of the large-scale sequencing projectMyocaptureto identify novel genes for myopathies B.M. van der Sluijs · S. Lassche · G.J. Knuiman · Benno Küsters · Arend Heerschap · Maria T. E. Hopman · Tim H. A. Schreuder · B.G.M. van Engelen · Nicol C. Voermans · Nicol C. Voermans
Non Invasive mechanical ventilation in Myotonic dystrophy type 1?: hypoventilation versus quality of life prespective Uluç Yiş · Kerstin Becker · Sebahattin Cirak · Sebahattin Cirak
Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy Andrea Vianello · Giovanna Arcaro · Piera Peditto · Silvia Iovino · Rosario Marchese-Ragona · Rosario Marchese-Ragona
Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution Tommaso Tartaglione · Claudia Brogna · Lara Cristiano · Tommaso Verdolotti · Marika Pane · Luana Ficociello · Lavinia Fanelli · Cesare Colosimo · Eugenio Mercuri · Eugenio Mercuri
227th ENMC International Workshop: . Finalizing a plan to guarantee quality in translational research for neuromuscular diseases Heemskerk, Netherlands, 10-11 February 2017 Ghilas Boussaïd · Frédéric Lofaso · David Orlikowski · Dante Santos Brasil · Stéphane Bahrami · Hélène Prigent · Hélène Prigent
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy Raffaella Willmann · Filippo Buccella · Annamaria De Luca · Miranda D. Grounds · Miranda D. Grounds
Low-level dystrophin expression attenuating the dystrophinopathy phenotype György Máté Milley · Edina Timea Varga · Edina Timea Varga · Zoltan Grosz · Csilla Nemes · Zsuzsanna Arányi · Judit Boczán · P. Diószeghy · Mária Judit Molnár · Anikó Gál · Anikó Gál
CorrigendumCorrigendum to Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient [Neuromuscular Disorders 27 (2017) 856–860] John Rendu · C. Bosson · N. Roux-Buisson · A. Chatagnon · B. Bankole · F. Rivier · J. Durigneux · Soledad Monges · T. Stojkovic · Norma B. Romero · I. Marty · Julien Fauré · Julien Fauré
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies O. Veldhuizen · C. Turner · M. Hails · R. Bendixen · Volker Straub · Volker Straub
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough R. Battini · D. Chieffo · S. Bulgheroni · Giorgia Piccini · C. Pecini · S. Lucibello · S. Lenzi · F. Moriconi · M. Pane · Guja Astrea · Giovanni Baranello · Paolo Alfieri · Stefano Vicari · D. Riva · Giovanni Cioni · E. Mercuri · E. Mercuri
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy Vilma-Lotta Lehtokari · Maria Gardberg · Katarina Pelin · Carina Wallgren-Pettersson · Carina Wallgren-Pettersson
Effects of botulinum toxin injections in the cricopharyngeal muscle of OPMD and IBM myopathies with dysphagia E. Mercuri · Nathalie Goemans · G. Sajeev · Z. Yao · E. McDonnell · S. Ward · James Signorovitch · James Signorovitch
TH.I.10 - Neuromuscular disorders genetics: what is the best that we can do? M. Guilbaud · C. Gentil · I. Holtzmann · C. Gruszczynski · S. Falcone · Cécile Peccate · S. Benkhelifa-Ziyyat · Stéphanie Lorain · F. Aurade · L. Jeanson-Leh · F. Piétri-Rouxel · F. Piétri-Rouxel
Global FKRP registry D. Saade · Diana Bharucha-Goebel · G. Norato · A.R. Foley · M. Waite · M. Jain · S. Debs · R. Vasavada · C. Nichols · R. Kaur · Sandra Donkervoort · S. Neuhaus · Y. Hu · T. Lehky · S. Gray · M. Fink · M. Fink
NMJ+C03 – Characterisation of MYO9A as a pre-synaptic CMS gene Nanna W. Dombernowsky · Joakim N.E. Ölmestig · Nanna Witting · Christina Kruuse · Christina Kruuse
Workshop report. 221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands Luisa Politano · Vincenzo Nigro · Vincenzo Nigro
Natural history of the heart in myotonic dystrophy type 1: a cardiac magnetic resonance imaging follow-up of 11 patients E. Bugiardini · O.V. Poole · A. Pittman · C.E. Woodward · Mary G. Sweeney · Simon Heales · Henry Houlden · M.G. Hanna · R.D.S. Pitceathly · R.D.S. Pitceathly
Clinical heterogeneity in andersen-tawil syndrome P. Marti · N. Muelas · Jordi Díaz-Manera · Juan J. Vílchez · Juan J. Vílchez
P.460 - Unraveling upper extremity performance in DMD: a biophysical model E. Gargaun · K. Aragon-Gawinska · A. Seferian · T. Gidaro · S. Gilabert · C. Lilien · A. Colcer · K. Boukouti · C. Vuillerot · C. Cances · A. Daron · M. Annousamy · A. De · L. Flet Berliac · H. Armier · L. Fiedler · L. Servais · L. Servais
P.85 - Usefulness of MRI in cases of hyperCKemia M. Johari · Meharji Arumilli · Marco Savarese · Johanna Palmio · G. Tasca · Massimiliano Mirabella · Lorenzo Maggi · Peter Hackman · B. Udd · B. Udd
P.196 - Sporadic inclusion body myositis: A polygenic disorder? K. Johnson · A. Martinez Arroyo · Miren Zulaica · Roberto Fernández-Torrón · A. Lopez de Munain · Ana Töpf · M. Bertoli · L. Phillips · A. Blain · M. Ensini · Monkol Lek · T. Mullen · E. Valkanas · L. Xu · Daniel G. MacArthur · Volker Straub · Volker Straub
P.443 - Identification and characterisation of ATP2A1 variants through whole exome sequencing P. Laforêt · Edoardo Malfatti · C. Metay · V. Jobic · Robert-Yves Carlier · Robert-Yves Carlier
NG.O.11 - Recessive mutations in novel gene MST01 cause early onset neuromuscular condition J. Witherspoon · R. Vasavada · M. Waite · I. Chrismer · M. Jain · K. Meilleur · K. Meilleur
P.185 - First case report of Nivolumab-induced dermatomyositis Gita Ramdharry · F. Jones · S. Holmes · N. James · S. Booth · M.M. Reilly · M.G. Hanna · M.G. Hanna
P.56 - Predominant posterior cerebral cortical atrophy in patients with DMD mutations J. Bourgeois Vionnet · B. Joubert · E. Bernard · N. Fabien · M. Sia · V. Pante · J. Honnorat · N. Streichenberger · N. Streichenberger
P.477 - 6-Minute walk test as a fatigability measure in RYR1-related myopathies J. Forbes · T. Genesini · A. Mouzat · A. Bogochvol · D. Castro · D. Rüdiger · E. Padovan · E. Macedo · F. Fonseca · H. Andrade · H. Silva · L. Lise · L. Dantas · M. Naccache · T. Valladares · R. Pavanello · Mayana Zatz · Mayana Zatz
Genetic and histological characterisation of excitation-contraction coupling related structural myopathy cohort N. Laing · N. Laing
P.260 - Pseudo-dominant inheritance of a novel homozygous HACD1 mutation associated with congenital myopathy: The first caucasian family Eugenio Mercuri · Richard S. Finkel · Janbernd Kirschner · Claudia A. Chiriboga · Nancy L. Kuntz · P. Sun · S. Gheuens · C. Bennett · E. Schneider · Wildon Farwell · Wildon Farwell
P.378 - Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): end of study results from the phase 3 CHERISH study Craig M. McDonald · Erik Henricson · Richard T. Abresch · T. Duong · Nanette C. Joyce · F. Hu · Paula R. Clemens · Eric P. Hoffman · Avital Cnaan · Heather Gordish-Dressman · Heather Gordish-Dressman
P.179 - PLEC gene mutations cause familial disto-proximal myopathy and long QT syndrome mimicking mitochondrial disease Hanns Lochmüller · A. Behin · Y. Caraco · H. Lau · M. Mirabella · I. Tournev · M. Tarnopolsky · Oksana Pogoryelova · J. Shah · T. Koutsoubos · A. Skrinar · H. Mansbach · E. Kakkis · T. Mozaffar · T. Mozaffar
P.59 - Long-term benefits of glucocorticoids in Duchenne muscular dystrophy: is it worth it? Ariana Kariminejad · M. Dahl-Halvarsson · Gianina Ravenscroft · F. Afroozan · E. Keshavarz · H. Goullée · Mark R. Davis · Nigel G. Laing · Homa Tajsharghi · Homa Tajsharghi
P.493 - TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor L. Gonzalez-Quereda · M. Rodriguez · A. Nascimento · C. Ortez · C. Jou · J. Milisenda · Jordi Díaz-Manera · I. Jerico · I. Tejada · P. Gallano · P. Gallano
Longitudinal proteomic analysis of sera allows to non-invasively monitor disease progression in Duchenne muscular dystrophy N. Chrestian · M. Sylvain · J. Karamchandani · J. Karamchandani
P.290 - A new TNNT1 mutation in a non Amish patient with original muscle pathology findings Sigrid Baldanzi · Costanza Simoncini · Giulia Ricci · C. Angelini · Gabriele Siciliano · Gabriele Siciliano
P.267 - Clinical variability in myotonic dystrophy type 1: a five-categories disease classification fits clinical but not brain complexity Miranda D. Grounds · Robert B. White · E. Lloyd · Gavin J. Pinniger · Gavin J. Pinniger
New insights into lipid accumulation in dysferlin deficient muscular dystrophies Roberta Brusa · Francesca Magri · Dimitra Papadimitriou · Alessandra Govoni · Roberto Del Bo · Patrizia Ciscato · Marco Savarese · Claudia Cinnante · Maggie C. Walter · Angela Abicht · Stefanie Bulst · Stefania Corti · Maurizio Moggio · Nereo Bresolin · Vincenzo Nigro · Giacomo P. Comi · Giacomo P. Comi
NG.O.9 - Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy J. Domingues · P. Tavares · L. Souza · T. Rezende · R. Casseb · A. Martinez · L. Rittner · S. Appenzeller · A. Nucci · Marcondes C. França · Marcondes C. França
P.140 - Clinical and histopathological characterization of the first French case of MATR3-related distal myopathy M. James · A. Mayhew · D. Moat · M. Eagle · E. Maron · R. Gee · K. Rose · B. Drogo · B. Vandevelde · K. Foy · S. Thiele · M. Sanchez-Aguilera Praxedes · A. Canal · H. Yajima · M. Sanjak · E. Montiel-Morillo · L. Bello · L. Alfano · K. Bushby · V. Straub · V. Straub
Does the performance of upper limb capture functional variations in dysferlinopathy Kuberaka Mariampillai · B. Granger · Marguerite Guiguet · D. Amelin · Jean-Luc Charuel · Lucile Musset · Y. Allenbach · O. Benveniste · O. Benveniste
P.422 - Development of a specific home based assessment tool for monitoring fluctuations in physical function and muscle performance in adult and paediatric myasthenia patients Kevin J. Felice · Charles H. Whitaker · Qian Wu · Daniel T. Larose · Guo Shen · Allan L. Metzger · Randall W. Barton · Randall W. Barton
P.375 - Clinical studies of RG7916 in patients with spinal muscular atrophy: SUNFISH part 1 study update T. Murakami · K. Ishigai · K. Ishiguro · T. Sato · M. Shichiji · M. Ikeda · Satoru Nagata · T. Uchida · Satoshi Kuru · T. Nakayama · T. Nakayama
P.312 - The contractile phenotype of a novel dystrophin-negative mouse strain with enhanced voluntary exercise capability Sonja Strang-Karlsson · K. Johnson · Ana Töpf · Liwen Xu · Liwen Xu · Monkol Lek · Monkol Lek · Daniel G. MacArthur · Daniel G. MacArthur · Olivera Casar-Borota · Olivera Casar-Borota · Maria Williams · Volker Straub · Carina Wallgren-Pettersson · Carina Wallgren-Pettersson
C9ORF72 and RAB7L1 regulate vesicle traffi cking in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Priscille Couture · Edoardo Malfatti · Geneviève Morau · Alexis Mathian · Fleur Cohen-Aubart · Hubert Nielly · Zahir Amoura · Patrick Cherin · Patrick Cherin
Genotype and other determinants of respiratory function in myotonic dystrophy type 1 Afagh Alavi · Sara Esmaeili · Shahriar Nafissi · Kimia Kahrizi · Hossein Najmabadi · Hossein Najmabadi
A database for screening and registering late onset Pompe disease in Turkey A.C. Jimenez-Moreno · J. Raaphorst · H. Babacic · Libby Wood · B.G.M. van Engelen · Hanns Lochmueller · Benedikt Schoser · Stephan Wenninger · Stephan Wenninger
Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions Ghilas Boussaïd · Karim Wahbi · P. Laforêt · Bruno Eymard · Tanya Stojkovic · Anthony Behin · Annane Djillali · David Orlikowski · Hélène Prigent · Frédéric Lofaso · Frédéric Lofaso
P.126 - Spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations in children S. Serel Arslan · G. Aydın · I. Alemdaroglu · O. Yılmaz · A. Karaduman · A. Karaduman
MoveDMD: phase 2 trial of edasalonexent, an NF-κB inhibitor, in 4 to 7-year old patients with Duchenne muscular dystrophy P. Marti · N. Muelas · T. Jaijo · José M. Millán · I. Azorin · Juan J. Vílchez · Juan J. Vílchez
P.489 - Assessment of chewing function and investigation reliability of Karaduman chewing performance scale in pediatric neuromuscular diseases Marco Savarese · P.H. Jonson · Sanna Huovinen · Petri Auvinen · Peter Hackman · B. Udd · B. Udd
P.332 - Contribution of the NGS analysis to the hyperCKemia N. Danièle · C. Bogni · L. Julien · A. Piet · Alban Vignaud · Anna Buj-Bello · Anna Buj-Bello
P.352 - Deregulation of IGF2BP1-mRNP components during the differentiation of FSHD muscle cells Pia R. Quitt · Marjo K. Hytönen · Kaspar Matiasek · Marco Rosati · Andrea Fischer · Hannes Lohi · Hannes Lohi
P.263 - Vacuolar necklace muscle fibers – a new variant? B. Fauroux · B. Fauroux
Brain involvement in Charcot–Marie–Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation Vincent Mayousse · Vincent Mayousse · Aurélien Jeandel · Nicolas Blanchard-Gutton · Catherine Escriou · Kirsten Gnirs · G. Diane Shelton · Stéphane Blot · Stéphane Blot · Stéphane Blot
Associations between timing of corticosteroid treatment initiation and clinical outcomes in Duchenne muscular dystrophy S. Hanche-Olsen · Kaspar Matiasek · Jessica Molin · Marco Rosati · K. Hultin Jäderlund · G. Gröndahl · G. Gröndahl
Long-term follow-up of motor function and muscle strength in the congenital and childhood forms of myotonic dystrophy type 1 Fouad Al-Ghamdi · Irina Anselm · Edward Yang · Partha S. Ghosh · Partha S. Ghosh
Double-seropositive myasthenia gravis with acetylcholine receptor and low-density lipoprotein receptor-related protein 4 antibodies associated with invasive thymoma Sunkyung Kim · Yong Zhu · Paul A. Romitti · Deborah J. Fox · Daniel W. Sheehan · Rodolfo Valdez · Dennis J. Matthews · Brent J. Barber · Brent J. Barber
Treatment with enzyme replacement therapy during pregnancy in a patient with Pompe disease Jacqueline Montes · Sally Dunaway Young · E. Mazzone · M. Main · Bart Bartels · Matthew Civitello · Giorgia Coratti · Tina Duong · T Estilow · Richard Gee · Allan M. Glanzman · Janis Kitsuwa-Lowe · Anna Mayhew · Elizabeth Mirek · Robert Muni Lofra · Shree Pandya · Amy Pasternak · Danielle Ramsey · Rachel Salazar · Jenna Turner · Julie Wells · Julie Wells
Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy Maria Carmela Pera · Marco Luigetti · Marika Pane · Giorgia Coratti · Nicola Forcina · Lavinia Fanelli · E. Mazzone · Laura Antonaci · Leonardo Lapenta · Concetta Palermo · Domiziana Ranalli · Giuseppe Granata · Mauro LoMonaco · Serenella Servidei · Eugenio Mercuri · Eugenio Mercuri
First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy T. Lencioni · Giuseppe Piscosquito · M. Rabuffetti · G. Bovi · Enrica Di Sipio · Manuela Diverio · Isabella Moroni · Luca Padua · E Pagliano · Angelo Schenone · Davide Pareyson · M. Ferrarin · M. Ferrarin
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement Bülent Kara · Hülya Maraş Genç · Emek Uyur-Yalçın · Ayfer Sakarya-Güneş · Uğur Topçu · Serap Mulayim · Serdar Ceylaner · Serdar Ceylaner
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy Eri Takeshita · Narihiro Minami · Kumiko Minami · Mikiya Suzuki · Takeya Awashima · Akihiko Ishiyama · Hirofumi Komaki · Ichizo Nishino · Masayuki Sasaki · Masayuki Sasaki
Novel truncating variant in DNA2-related congenital onset myopathy and ptosis suggests genotype-phenotype correlation Ernestina Santos · Andreia Bettencourt · Ana Martins da Silva · Daniela Boleixa · Dina Lopes · Sandra Brás · Paulo Pinho e Costa · Paulo Pinho e Costa · Carlos Lopes · Guilherme Gonçalves · M I Leite · Berta Martins da Silva · Berta Martins da Silva
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy P. Phowthongkum · A. Sun · A. Sun
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype Erik Landfeldt · Peter Lindgren · M. Guglieri · Volker Straub · Hanns Lochmüller · K. Bushby · K. Bushby
Reliability and validity analyses of the North Star Ambulatory Assessment in Brazilian Portuguese Osorio Abath Neto · Osorio Abath Neto · Osorio Abath Neto · Cristiane de Araújo Martins Moreno · Edoardo Malfatti · Sandra Donkervoort · Johann Böhm · júlio Brandão Guimarães · A. Reghan Foley · Payam Mohassel · J. Dastgir · Diana Bharucha-Goebel · Soledad Monges · Fabiana Lubieniecki · James J. Collins · L. Medne · Mariarita Santi · Sabrina W. Yum · Brenda Banwell · Emmanuelle Salort-Campana · John Rendu · Julien Fauré · Uluç Yiş · Bruno Eymard · Chrystel Cheraud · Raphaël Schneider · Raphaël Schneider · Julie D. Thompson · Xavière Lornage · Lilia Mesrob · Doris Lechner · Anne Boland · Jean-François Deleuze · Umbertina Conti Reed · Acary Souza Bulle Oliveira · Valérie Biancalana · Norma B. Romero · Carsten G. Bönnemann · Jocelyn Laporte · Edmar Zanoteli · Edmar Zanoteli
Spinal muscular atrophy: a changing phenotype beyond the clinical trials Byron Kakulas · R. Quinlivan · R. Quinlivan
Morbidity due to Osteoporosis in DMD: The Path Forward Proceedings of a Parent Project Muscular Dystrophy Bone Health Workshop May 12-13, 2016, Bethesda, Maryland, USA Eduardo F. Tizzano · Richard S. Finkel · Richard S. Finkel
Dramatic elevation in urinary amino terminal titin fragment excretion quantified by immunoassay in Duchenne muscular dystrophy patients and in dystrophin deficient rodents Macarena Cabrera-Serrano · Macarena Cabrera-Serrano · Reimar Junckerstorff · Reimar Junckerstorff · Ali Alisheri · Alan Pestronk · Nigel G. Laing · Conrad C. Weihl · Phillipa Lamont · Phillipa Lamont · Phillipa Lamont
Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy Leanne Ward · Kathi Kinnett · Lynda F. Bonewald · Lynda F. Bonewald
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male Alan S. Robertson · Mark J. Majchrzak · Courtney M. Smith · Robert Gagnon · Nino Devidze · Glen B. Banks · Sean C. Little · Fizal Nabbie · Denise I. Bounous · Janet DiPiero · Leslie K. Jacobsen · Linda J. Bristow · Michael K. Ahlijanian · Stephen A. Stimpson · Stephen A. Stimpson
Muscle pathology in Vici syndrome–A case study with a novel mutation in EPG5 and a summary of the literature André Macedo Serafim da Silva · Rodrigo Mendonça · Cristiane de Araújo Martins Moreno · Eduardo de Paula Estephan · Paulo Victor Partezani Helito · Mary S. Carvalho · Edmar Zanoteli · Edmar Zanoteli
Monoclonal gammopathy with both nemaline myopathy and amyloid myopathy Carola Hedberg-Oldfors · Kittichate Visuttijai · Alexandra Topa · Mar Tulinius · Anders Oldfors · Anders Oldfors
Corrigendum toResponse to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both[Neuromuscular Disorders 26/8 (2016) 549] L.N. Alfano · Natalie Miller · Katherine Berry · Han Yin · Kimberly E. Rolf · Kevin M. Flanigan · Kevin M. Flanigan · Jerry R. Mendell · Jerry R. Mendell · Linda P. Lowes · Linda P. Lowes · Linda P. Lowes
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation Jung Hwan Lee · Jin Hong Shin · Hyung Jun Park · Sook Za Kim · Young Mi Jeon · Hye Kyoung Kim · Dae Seong Kim · Young Chul Choi · Young Chul Choi
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy Annalisa Sechi · Desy Salvadego · Alessandro Da Ponte · Nicole Bertin · Andrea Dardis · Silvia Cattarossi · Grazia Devigili · Federico Reccardini · Bruno Bembi · Bruno Grassi · Bruno Grassi
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population G. Tasca · Mauro Monforte · Claudia Nesti · Filippo M. Santorelli · Gabriella Silvestri · Enzo Ricci · Enzo Ricci
Age-related and mutation-independent proteomic changes in dystrophic mouse muscle V. Selby · Gita Ramdharry · J.Y. Hogrel · E. Milev · M.G. Hanna · Francesco Muntoni · Francesco Muntoni
FUNCTIONAL VALIDATION OF NON-CODING VARIANTS OF GJB1 IN PATIENTS WITH CMTX1 H.E. Steele · I. Emmerson · Boglarka Bansagi · J. Frith · Rita Horvath · Rita Horvath
The role of p62/SQSTM1 in sporadic inclusion body myositis David Orlikowski · Hélène Prigent · Maria-Antonia Quera Salva · Nicholas Heming · Cendrine Chaffaut · Sylvie Chevret · Djillali Annane · Frédéric Lofaso · Adam Ogna · Adam Ogna
Resistant myasthenia gravis and rituximab: A monocentric retrospective study of 28 patients M.G.E. te Riele · Tim H. A. Schreuder · N. van Alfen · M. Bergman · Sigrid Pillen · B.W. Smits · G.J. van der Wilt · H. Groenewoud · Nicol C. Voermans · B.G.M. van Engelen · B.G.M. van Engelen
Is one trial enough for repeated testing? Same-day assessments of walking, mobility and fine hand use in people with myotonic dystrophy type 1 Satoshi Nakano · Mitsuaki Oki · Hirofumi Kusaka · Hirofumi Kusaka
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy Vadim Afanasiev · Sophie Demeret · Francis Bolgert · Bruno Eymard · P. Laforêt · O. Benveniste · O. Benveniste
Cutaneous features of myotonic dystrophy types 1 and 2: implication of premature aging and vitamin d homeostasis Marie Kierkegaard · Marie Kierkegaard · Émilie Petitclerc · Luc J. Hébert · Cynthia Gagnon · Cynthia Gagnon
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance Nicol C. Voermans · N. Preisler · K. Madsen · M. Janssen · Benno Küsters · N. Abu Bakar · F. Conte · V.M.L. Lamberti · F. Nusman · B.G.M. van Engelen · M. van Scherpenzeel · John Vissing · Dirk J. Lefeber · Dirk J. Lefeber
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology Marco Marino · Olimpia Musumeci · Giuseppe Paleologo · Maria Cucinotta · Alba Migliorato · Carmelo Rodolico · Antonio Toscano · Antonio Toscano
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
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
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
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
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
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
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
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

Corrigendum toCongenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up[Neuromuscular Disorders 28/4 (2018) 315–322]
Neuromuscular Disorders | 2018
José Manuel Pardal-Fernández · María Carmen Carrascosa-Romero · S. Álvarez · M.C. Medina-Monzón · M. Bengoa Caamaño · C. de Cabo · C. de Cabo
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant
Neuromuscular Disorders | 2018
A.M. Khan · T. Sultan · Y. Kriouile · M. Pipis · J. Vandrovcova · H. Tariq · S. Efthymiou · V. Salpietro · M.M. Reilly · Henry Houlden · Henry Houlden
Novel valosin-containing protein mutations associated with multisystem proteinopathy
Neuromuscular Disorders | 2018
B. O’Callaghan · Michael G. Hanna · J.E. Morgan · H. Houlden · M. Madej · M. Madej
Correlation between flow cytometry, histology and genetic findings for the diagnosis of collagen VI-related myopathies
Neuromuscular Disorders | 2018
Richard Webster · A. Vanhaesebrouck · Susan Maxwell · Judy Cossins · D.M.W. Beeson · D.M.W. Beeson