Journal of Neuromuscular Diseases

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ISSN online
8; 6 issues
Last issue (8:3) online on 14 May 2021
Next issue
8:4 scheduled for July 2021
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Biochemistry, Medicine & Health, Neurosciences
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Science Citation Index-Expanded During Jun 2021, Journal of Neuromuscular Diseases (JND) will be covered in the Science Citation Index-Expanded category in the Web of Science, which will provide greater discoverability for JND articles leading to measurable citations. It is expected that the journal will be assigned its first impact factor in 2022.

Social Media & New Sign Ups
– JND is on Facebook and Twitter, with social media editors Dr. Grace McMacken & Dr. Emily O'Connor at the helm. Be sure to follow us and be part of the conversation! If you are not already signed up to the JND newsletter, you can do so via this link We send mailings with details of for new JND issues, plus other related news including view our first video contribution here! You can read the latest newsletter here, all about our open access special issue on Treatbolome.

COVID-19 Statement 
– The current COVID-19 crisis is affecting many lives, and also research initiatives. We appreciate the efforts of our editors, authors, and reviewers working on our journal at this difficult time. See the JND COVID-19 statement here.

Partnership with TNMD 
– As of December 2017, a new partnership was announced between JND and TREAT-NMD (, a network for the neuromuscular field. The partnership ensures both teams will work together to give a platform to the latest developments in neuromuscular diseases research. TREAT-NMD members are eligible to receive a 20% discount to an individual yearly subscription to JND, as well as a 10% discount on the optional Open Access fee for accepted papers. For more details, contact the editorial office (email: 

JND accepted for inclusion in PubMed (MEDLINE) – As of November 2016, the Journal of Neuromuscular Diseases was selected for inclusion in MEDLINE, the largest component of PubMed. MEDLINE is searchable for free using PubMed at Citations and abstracts for articles published in the journal going back to Volume 1/Number 1 are available in the PubMed database.

Why publish in JND? – Low Open Access fee: JND offers an optional Open Access fee of $1450/EUR1250. JND is fully compliant to funding agencies’ mandates, and Open Access articles are automatically uploaded to PubMed Central. JND offers rigorous peer review and has a rapid handling turn-around time of 35 days from receipt to to first decision. The Editors do their best to get you the result to your article’s review as soon as possible. If your article is accepted it will be in our online contents and visible in PubMed within 3 weeks, and published in an issue at a minimum of one month and a maximum of four months.

The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.


Carsten G. Bönnemann, MD 
National Institute of Neurological Disorders
and Stroke/NIH, Neuromuscular and Neurogenetic
Disorders of Childhood Section
Bethesda, USA

Hanns Lochmüller, MD, PhD
Children's Hospital of Eastern Ontario
Research Institute, University of Ottawa
Ottawa, Canada

Associate Editors for Reviews

Gisèle Bonne, PhD
Université Pierre et Marie Curie, Department of Genetics, Molecular Biology, Paris, France 

Shin'ichi Takeda, MD, PhD 
National Institute of Neuroscience, Translational Medical Center, Tokyo, Japan

Associate Editors

Annemieke Aartsma-Rus, PhD
LUMC, Department of Human Genetics, Leiden, The Netherlands

Jeff Chamberlain, PhD
University of Washington, Department of Neurology, Medicine and Biochemistry, Seattle, USA
Giacomo Comi, MD
University of Milan, Department of Neurology, Milan, Italy

Claude Desnuelle, MD, PhD 
Centre Hospitalier Universitaire de Nice, Department of Neurology, Nice, France

Salvatore DiMauro, MD 
Columbia University Medical Center, Department of Neurology, New York, USA

James Dowling, MD, PhD
Hospital for Sick Children and University of Toronto, Department of Molecular Genetics, Toronto, Canada

Tom Gillingwater, PhD, FAS, FRMS, MloD
Centre for Intergrative Physiology, Edinburgh, United Kingdom

Matthew Harms
Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA

Eric P. Hoffman, PhD
Children’s National Medical Center, Research Center for Genetic Medicine, Washington, USA

Nicolas Lévy, MD, PhD
Aix Marseille University-Inserm, Medical Genetics and Functional Genomics, Marseille, France

Elizabeth McNally, MD, PhD
Northwestern University, Center for Genetic Medicine, Chicago, USA

Frederick W. Miller, MD, PhD
Environmental Autoimmunity Group, National Institute of Environmental Health Sciences, Durham, NC, USA

Markus A. Ruegg, PhD
University of Basel, Biozentrum, Basel, Switzerland

Stephan Züchner, MD, PhD
University of Miami Leonard M. Miller School of Medicine, Department of Human Genetics, Miami, USA

Social Media Editor

Grace McMacken, MD
Neurology Registrar, Royal Victoria Hospital, Belfast, United Kingdom

Dr. Emily O'Connor
Lochmüller Lab, CHEO Research Institute II
Ottawa, ON, Canada

Editorial Board

Valérie Allamand, PhD
Sorbonne Universités UPMC - Inserm UMRS 974, Institut de Myologie, Paris, France

Zohar Argov, MD
Hadassah-Hebrew University Medical Center, Department of Neurology, Jerusalem, Israel

Guillaume Bassez, MD, PhD
University of Paris, Department of Neurology, Paris, France

David Beeson, PhD
University of Oxford, Department of Medicine, Oxford, United Kingdom

Alan Beggs, PhD
Boston Children’s Hospital, Department of Medicine Research, Boston, USA

Craig Blackstone, MD, PhD
Porter Neuroscience Research Center, Cell Biology Section, Bethesda, USA

Bernard Brais, MD, PhD
CHUM Research Centre – Hopital Notre-Dame, Department of Neurology, Montreal, Canada

Thomas Braun, MD, Dr. rer. nat.
Max Planck Institute for Heart and Lung Research, Department of Cardiac Development and Remodelling, Bad Nauheim, Germany

Ari Breiner
The Ottawa Hospital, University of Ottawa, Ottawa, ON, Canada

Steven Burden, PhD
New York University Medical Center, Department of Neuroscience and Physiology, New York, USA

Kate Bushby, MD, FRCP
Newcastle upon Tyne, United Kingdom

Gillian Butler-Browne, PhD
Université Pierre et Marie Curie, Paris, France

Craig Campbell
University of Western Ontario, Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, London, ON, Canada

Kevin Campbell, PhD
University of Iowa, Department of Molecular Physiology and Biophysics, Iowa City, USA

Pierre Carlier, MD, PhD
CEA, Institut des Sciences du Vivant Frédéric Joliot, SHFJ, Orsay, France

Patrick Chinnery, PhD
University of Cambridge, Department of Clinical Neurosciences, Cambridge, United Kingdom

Stefania Corti, MD, PhD
University of Milan, DEPT Neurosciences Section, Milan, Italy

Giulio Cossu, MD
University of Manchester, Institute of Inflammation and Repair, Manchester, United Kingdom

Marinos Dalakas, MD, FAAN
University of Athens Medical School, Department of Clinical Neurosciences, Neuromuscular Diseases, Athens, Greece

Kay Davies, CBE, DBE, F.MedSci., FRS
University of Oxford, Department of Physiology, Anatomy and Genetics, Oxford, United Kingdom

John W. Day, MD, PhD
Stanford University Medical Center, Department of Neurology & Neurological Sciences, Stanford, USA

Annamaria De Luca, PhD
University of Bari "Aldo Moro", Department of Pharmacology, Bari, Italy

George Dickson, PhD
Royal Holloway University of London, Department of Biomedical Sciences, London, United Kingdom

Madeleine Durbeej, PhD
Lund University, Department of Experimental Medical Science, Lund, Sweden

James M. Ervasti, PhD
University of Minnesota, Department of Biochemistry, Molecular Biology and Biophysics, Minneapolis, USA

Karyn A. Esser, PhD
University of Florida, Department of Physiology and Functional Genomics, Gainesville, USA

Bruno Eymard, MD, PhD
Hôpital de la Salpêtrière, Department of Neurology, Paris, France

Justin Fallon, PhD
Brown University, Department of Neuroscience, Providence, USA

Alessandra Ferlini, MD, PhD
University of Ferrara, Department of Medical Science, Ferrara, Italy

Richard Finkel, MD
Nemours Children’s Hospital, Devision of Neurology, Department of Pediatrics, Orlando, USA

Kenneth Fischbeck, MD
NIH, Neurogenetics Branch, Bethesda, USA

Kevin M. Flanigan, MD
Nationwide Children's Hospital, Department of Neurology, Columbus, USA

Bertrand Fontaine, MD, PhD
CRICM, Department of Neurology, Paris, France

Stanley C. Froehner, PhD
University of Washington, Department of Physiology & Biophysics, Seattle, USA

Luis Garcia, PhD
University of Versailles Saint-Quentin, Department of Inflammation & Therapeutiques, Montigny-le-Bretonneux, France

Sweta Girgenrath, PhD
Boston University, Department of Health Sciences, Boston, USA

Hans Goebel, MD
Charité - Universitätsmedizin Berlin, Department of Neuropathology, Berlin, Germany

Nathalie Goemans, MD
UZ Leuven, Department of Paediatrics and Child Neurology, Leuven, Belgium

Robert C. Griggs, MD
University of Rochester Medical Center, Department of Neurology, Rochester, USA

Miranda D. Grounds, PhD
The University of Western Australia, Department of Anatomy and Human Biology, Crawley, Australia

Denis C. Guttridge, PhD
The Ohio State University, Department of Regenerative Medicine, Columbus, USA

Mike Hanna, MD
UCL Institute of Neurology, Institute of Neurology, London, United Kingdom

Stephen Hauschka, PhD
University of Washington, Department of Biochemistry, Seattle, USA

Michio Hirano, MD
Columbia University Medical Center, Department of Neuromuscular Medicine, Neurology, New York, USA

Rita Horvath, PhD
Newcastle University, Department of Genetic Medicine, Newcastle upon Tyne, United Kingdom

Johnny Huard, PhD
McGowan Institute for Regenerative Medicine, Department of Orthopaedic Surgery, Pittsburgh, USA

Isabel Illa, MD, PhD
Hospital de la Santa Creu i Sant Pau, Department of Neurology, Barcelona, Spain

Heinz Jungbluth, MD, PhD
King's College London, Clinical Neuroscience Division, IoP, London, United Kingdom

Nagaraju Kanneboyina, DVM, PhD
Children's National Medical Center, Department of Genetic Medicine Research, Washington, USA

Petra Kaufmann, MD
NIH/NINDS, Office of Rare Diseases Research and Division of Clinical Innovation, Bethesda, USA

Qing Ke, PhD
Zhejiang University School of Medicine, Institute of Neuroscience, Hangzhou, China

Tejvir S. Khurana, MD, PhD
University of Pennsylvania School of Medicine, Department of Physiology & Biophysics, Philadelphia, USA

Janbernd Kirschner, MD
Universitats Klinikum Freiburg, Department of Pediatric Neurology and Muscle Disorders, Freiburg, Germany 

Lawrence Korngut
University of Calgary, Department of Clinical Neurosciences, Calgary, AB, Canada

Dimitri Kullmann, MD, PhD
UCL, Institute of Neurology, London, United Kingdom

Siegfried Labeit, MD
Universitätsklinikum Mannheim, Department of Biomedicine, Mannheim, Germany

Jocelyn Laporte, PhD
IGBMC, Department of Translational Medicine and Neurogenetics, Illkirch, France

Lars Larsson, MD, PhD
Karolinska Institutet, Department of Physiology and Pharmacology (FYFA), C3, Stockholm, Sweden

Tom Lloyd, MD, PhD
Johns Hopkins University School of Medicine, Department of Neurology, Baltimore, USA

Andrew Mammen, MD, PhD
NIH, Muscle Disease Unit, Bethesda, USA

Jerry R. Mendell, MD
Nationwide Children’s Hospital, Department of Neurology, Columbus, USA

Giovanni Meola, MD
University of Milan, Department of Neurology, Milan, Italy

Stella Mitrani-Rosenbaum, PhD
Hadassah Medical Center, Genetic Therapy Institute, Jerusalem, Israel

Marina Mora, PhD
Fondazione IRCCS Istituto Neurologico Carlo Besta, Division of Neurology IV, Milan, Italy

Tahseen Mozaffar
University of California, School of Medicine, Irvine, CA, USA

Vincenzo Nigro, PhD
University of Naples, Department of Biochemistry, Biophysics and General Pathology, Naples, Italy

Ichizo Nishino, MD, PhD
National Institute of Neuroscience, Department of Neuromuscular Research, Tokyo, Japan

Kathryn North, PhD
Murdoch Childrens Research Institute, Melbourne, Australia

Kinji Ohno, MD, PhD
Nagoya University School, Department of Neurogenetics and Bioinformatics, Nagoya, Japan

Eric Olson, PhD
Southwestern Medical Center, Department of Molecular Biology, Dallas, USA

Bradley B. Olwin
Department of Molecular, Cellular and Developmental Biology
University of Colorado, Boulder, CO, USA

Davide Pareyson, MD
Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Neurology, Milan, Italy

Thomas A. Rando, MD, PhD
Stanford University School of Medicine, Department of Neurology & Neurological Sciences, Stanford, USA

Gina Ravenscroft, PhD
The University of Western Australia, Centre for Medical Research, Crawley, Australia

Mary Reilly, MD
UCL, Institute of Neurology, London, United Kingdom

Isabelle Richard, PhD
Généthon – CNRS UMR8115, "Limb-Girdle Muscular Dystrophies" lab, Evry, France

Lisa G. Rider, MD
NIEHS/NIH, Department of Environmental Health Sciences, Bethesda, USA

Richard Roxburgh, PhD, FRACP
Centre for Brain Research, University of Auckland, New Zealand

Vittorio Sartorelli, MD
NIH, Laboratory of Muscle Stem Cells and Gene Regulation, Bethesda, USA

Ulrike Schara
Neuropediatrics, Universitätsklinikum Essen, Essen, Germany

Jens Schmidt, MD
University Medical Center Göttingen, Department of Neuromuscular Diseases, Göttingen, Germany

Benedikt Schoser, MD
Friedrich-Baur-Institut, Department of Neurology, Munich, Germany

Duygu Selcen, MD
Mayo Clinic, Children's Center, Pediatric and Adolescent Medicine, Neurology, Jacksonville, USA

Jan Senderek, MD
Friedrich-Baur-Institut, Department for Neuromuscular Diseases, Munich, Germany

Michael E. Shy, MD
University of Iowa Carver College of Medicine, Division of Neuromuscular Medicine, Neurology, Iowa City, USA

Werner Stenzel, MD
Charité – Universitätsmedizin, Department of Neuropathology, Berlin, Germany

Volker Straub, MD, PhD
University of Newcastle upon Tyne, Institute of Genetic Medicine, Newcastle upon Tyne, United Kingdom

Maurice Swanson, PhD
University of Florida, Department of Molecular Genetics & Microbiology, Gainesville, USA

Lee Sweeney, PhD
University of Pennsylvania, Department of Physiology, Pennsylvania, USA

Kathryn J. Swoboda, MD
University of Utah School of Medicine, Department of Neurology, Salt Lake City, USA

Rabi N. Tawil, MD
University of Rochester Medical Center, Department of Neurology, Rochester, USA

Charles A. Thornton, MD
University of Rochester Medical Center, Department of Neurology, Rochester, USA

Vincent Timmerman, PhD
University of Antwerp, Department of Molecular Genetics, Antwerp, Belgium

Haluk Topaloglu, MD
Hacettepe University, Department of Pediatrics, Neurology, Ankara, Turkey

Antonio Toscano, MD
University of Messina, Department of Neurology, Messina, Italy

Doug Turnbull, MD
University of Newcastle upon Tyne, Wellcome Trust Centre, Newcastle upon Tyne, United Kingdom

Bjarne Udd, MD, PhD
Tampere University and University Hospital, Neuromuscular Center, Tampere, Finland

Leonard van den Berg, PhD
UMC Utrecht, Department of Neurology, Utrecht, The Netherlands

Pieter van Doorn, MD, PhD
Erasmus MC, Center for Lysosomal and Metabolic Diseases, Rotterdam, The Netherlands

Gert-Jan van Ommen, PhD
LUMC, Department of Human Genetics, Leiden, The Netherlands

Jan Verschuuren, MD
LUMC, Department of Neurology, Leiden, The Netherlands

Angela Vincent, MBBS, (Hon PhD Bergen), FRCPath, FMedSci, FRS
University of Oxford, Department of Clinical Neurosciences, Oxford, United Kingdom

John Vissing, MD
University of Copenhagen, Department of Neurology, Copenhagen, Denmark

Dominic Wells, VetMB, PhD, MRCVS, FHEA, FSB
The Royal Veterinary College, Department of Comparative Biomedical Sciences, London, United Kingdom

Hugh Willison, PhD
University of Glasgow, Institute of Infection, Immunity and Inflammation, Glasgow, United Kingdom

Steve Wilton, PhD
The University of Western Australia, Centre for Neuromuscular and Neurological Disorders, Perth, Australia

Peter Zammit, PhD
King’s College London, Randall Division of Cell & Molecular Biophysics, London, United Kingdom

Massimo Zeviani, MD, PhD
The Foundation “Carlo Besta” Institute of Neurology – IRCCS, Mitochondrial Biology Unit, Milan, Italy




By submitting my article to this journal, I agree to the IOS Press License to Publish: and the IOS Press Privacy Policy:

Submission of an article is understood to imply that the article is original and unpublished and is not being considered for publication elsewhere. Any possible conflict of interest, financial or otherwise, related to the submitted work must be clearly indicated in the manuscript.

The article type (Research paper, Review paper, Editorial, Case Report, Letter to the Editor, etc) should be clearly mentioned in the cover letter to help the editorial process.

This journal operates with single-blind peer review. If the author prefers double-blind peer review, then please submit the manuscript excluding the author listing and make sure the document is anonymized, and list the authors and affiliations only in the cover letter for the Editor.

Note that the manuscript should be uploaded as one file with tables and figures included. This file can be a Word document, a PDF, or an embedded or zip file (.rar) if separate high resolution figures or a supplemental file such as a video are also to be included with the submission (the file size maximum for a video is 25MB). If the video is too large to submit, please contact to arrange a file transfer. For further information about submitting supplementary data please scroll down the page to the header “Supplementary Material”.

Resubmissions should include the manuscript number in the cover letter. The author's replies to the reviewer comments should be included within the revised manuscript itself (at the top). The revised paper should always be a Word document.


Procedures involving experiments on human subjects should be in accord with the ethical standards of the Committee on Human Experimentation of the institution in which the experiments were done or in accord with the Helsinki Declaration of 1975. The author must state compliance in the cover letter and in the Methods section of the article.

Procedures involving experimentation on animal subjects should be in accord with either the guide of the institution in which the experiments were done, or with the National Research Council’s guide for the care and use of laboratory animals. The author must state compliance in the cover letter and in the Methods section of the article.

Preferably patients in figures should be unrecognizable. Authors are responsible for obtaining patient permission for use of the material from all recognizable participants in photographs, videos, or other information that may be published in the Journal or on the journal’s website. A statement that permission was granted by the patient must accompany the figure legend. Do not use study participants' names, initials, or hospital numbers anywhere in the manuscript (including figures).


The Journal of Neuromuscular Diseases operates a rigorous, timely, blinded peer review process (with an option for double-blind if requested) by experts in the field. Manuscripts submitted to the Journal of Neuromuscular Diseases will be assessed for suitability for publication in the journal by the Editors-in-Chief. Manuscripts that are deemed unsuitable may be rejected without peer review by the Editors-in-Chief and/or the Associate Editors, and the author will be informed as soon as possible. Manuscripts that are deemed suitable for peer review are forwarded to an Associate Editor with expertise in that area who then recruits appropriate anonymous referees (a minimum of two) for confidential review. Referee reports are then assessed by the Associate Editor, who makes a decision which is then subject to approval by the Editors-in-Chief. Once approved this decision is then conveyed to the author along with the referees’ anonymized reports.

The initial decision will be one of the following: rejection, acceptance without revision, or potentially acceptable after minor or major revisions. Revised manuscripts will be appraised by the Associate Editor, who may seek the opinion of referees (prior or new) before making a decision, which again is subject to approval of the Editors-in-Chief. Once approved, this decision is then conveyed to the author along with the anonymized referees’ reports. Once accepted, manuscripts are normally published on-line without delay and appear in the next available print issue (published quarterly).

The Editors-in-Chief have ultimate responsibility for what is published in the journal. Authors may appeal decisions by contacting the Editors-in-Chief (at Authors will be informed in writing of the result of their appeal.


Research Reports

Organization and style of presentation

  1. Manuscripts must be written in English. Authors whose native language is not English are recommended to seek the advice of a native English speaker, if possible, before submitting their manuscripts. Peerwith offers a language and copyediting service to all scientists who want to publish their manuscript in scientific peer-reviewed periodicals and books.
  2. Manuscripts should be double spaced throughout with wide margins (2.5 cm or 1 in), including the abstract and references. Every page of the manuscript, including the title page, references, tables, etc., should include a page number centered at the bottom. Do not number headings or subheadings (use all caps, italics, then underline). Footnotes should be avoided.
  3. There are no page or word limits for Research Reports but manuscripts over 10,000 words (Introduction through Discussion) should be approved by the Editor-in-Chief before submission.
  4. Manuscripts should be organized in the following order with headings and subheadings typed on a separate line, without indentation.

Title page
- Title (should be clear, descriptive and concise)
- Full name(s) of author(s)
- Full affiliation(s). Delineate affiliations with lowercase letters.
- Present address of author(s), if different from affiliation
- Running title (45 characters or less, including spaces)
- Complete correspondence address, including telephone number, fax number and e-mail address

Leave the author information blank if double-blind peer review is wished for and anonymize your document, but do include the information in the cover letter.

Changes in Authorship

When submitting the manuscript the author listing and order should be final. If any addition, deletion or rearrangement of author names in the authorship list does need to be made after submission, this can be done only before acceptance and with the Editor’s approval. To request such a change, the Editor must receive the following from the corresponding author: (1) the reason for the change in author list and (2) written confirmation from all authors, including the affected author, that they agree with the addition, removal or rearrangement.

Only in exceptional circumstances will the Editor consider the addition, deletion or rearrangement of authors after the manuscript has been accepted. While the Editor considers the request, publication of the manuscript will be suspended. If the manuscript has already been published in an issue, any requests approved by the Editor will result in an Erratum.

Abstract and Keywords
-The abstract for research papers should follow the "structured abstract" format:
The abstract should try to be no longer than 250 words.
- For other papers such as Reviews, the abstract should be clear, descriptive, and self-explanatory, and no longer than 250 words.

- Include a list of 4-10 keywords. These keywords should be terms from the MeSH database.

- Note that ALL articles (except book reviews and letters to the editor) must include an abstract.


Materials and Methods



Acknowledgments including sources of support

Conflict of Interest
If there is no conflict of interest to declare, do still include this section and insert "The authors have no conflict of interest to report".

Authors are requested to use the Vancouver citation style. Place citations as numbers in square brackets in the text. All publications cited in the text should be presented in a list of references at the end of the manuscript. List the references in the order in which they appear in the text. Only articles published or accepted for publication should be listed in the reference list. Submitted articles can be listed as (author(s), unpublished data). If an article has a DOI, this should be provided after the page number details. The number is added after the letters 'doi'. Manuscripts will not be considered if they do not conform to the Vancouver citation guidelines.

References must be listed in Vancouver style:
[1] Rose ME, Huerbin MB, Melick J, Marion DW, Palmer AM, Schiding JK, et al. Regulation of interstitial excitatory amino acid concentrations after cortical contusion injury. Brain Res. 2002;935(1-2):40-6.
[2] Murray PR, Rosenthal KS, Kobayashi GS, Pfaller MA. Medical microbiology. 4th ed. St. Louis: Mosby; 2002.
[3] Berkow R, Fletcher AJ, editors. The Merck manual of diagnosis and therapy. 16th ed. Rahway (NJ): Merck Research Laboratories; 1992.
[4] Meltzer PS, Kallioniemi A, Trent JM. Chromosome alterations in human solid tumors. In: Vogelstein B, Kinzler KW, editors. The genetic basis of human cancer. New York: McGrawHill; 2002. p. 93-113.
[5] Canadian Cancer Society [homepage on the Internet]. Toronto: The Society; 2006 [updated 2006 May 12; cited 2006 Oct 17]. Available from:
[6] Tian D, Araki H, Stahl E, Bergelson J, Kreitman M. Signature of balancing selection in Arabidopsis. Proc Natl Acad Sci U S A. In press 2002.
[7] Fletcher D, Wagstaff CRD. Organisational psychology in elite sport: its emergence, application and future. Psychol Sport Exerc. 2009;10(4):427-34. doi:10.1016/j.psychsport.2009.03.009.

Datasets and Data Articles

All datasets and data articles referenced in your manuscript should be cited in the main reference list of your article (not in a separate box or in the article text).

- Number according to their sequence in the text. The text should include references to all tables.
- Provide each table on a separate page of the manuscript after the references.
- Include a brief and self-explanatory title with any explanations essential to the understanding of the table given in footnotes at the bottom of the table.
- Vertical lines should not be used to separate columns. Leave some extra space between the columns instead.

- Citations in the tables should be numbered and included in the Reference list.

Figure Legends

The author is required to have obtained patient permission from all recognizable participants in photographs, videos, or other information that may be published in the Journal or on the journal’s website. A statement that permission was granted by the patient must accompany the figure legend. Do not use study participants' names, initials, or hospital numbers in the legend, figure, or anywhere in the manuscript.

Number the figures according to their sequence in the text. The text should include references to all figures.
- Figures should preferably be formatted in TIF or EPS format. JPG is also acceptable.
- Figures should be designed with the format of JHD in mind and preferable sized as they will appear when printed. A single column of the journal is 77mm and two columns are 165mm.
- Figures should be at 300 dpi or higher and be cropped to include the figure only (no blank space). CMYK is preferred for color figures.
- On figures where a scale is needed, use bar scales to avoid problems if the figure needs to be reduced.
- Each illustration should have a brief self-explanatory legend that should be typed separately from the figure in the section of the manuscript following the tables.
- Costs for color figures in the print version of the journal are as follows: 1 figure - 650 euro; 2 figures - 900 euro; 3 figures - 1050 euro; 4 figures - 1200 euro; 5 figures - 1350 euro. Cost for each additional color figure will be 150 euro. Color figures are free in the electronic version of the journal. You may opt to send in both black/white figures for print, and color figures for the online PDF (please adjust the figure legend appropriately).

Supplementary Data
Supplementary material is peer-reviewed material directly relevant to the conclusion of a paper that cannot be included in the printed version for reasons of space or medium (for example, movie clips or sound files). The supplement will be available for download from the publisher's content library site at the time of publication and will be made available in the format in which it was provided.

Supplementary material should be included at the end of the main manuscript at the time of submission. In the case of sound/movie files, these can be submitted separately to the Managing Editor ( at the time of submission. Supplementary tables and figures must have a separate numbering system from that used for tables and figures that appear in the print version of the paper (the first figure displayed should be labeled "Supplementary Figure 1", the first table "Supplementary Table 1", and so on). References should also be cited in supplements started with [1] and listed separately.

Supplementary files are limited to 10MB, except videos which can be up to 25MB.

Supplementary material for Short Communications is limited to 500 words and 1 table or figure.

Reviews should be authoritative and topical and provide comprehensive and balanced coverage of a timely and/or controversial issue. Reviews should be prepared as detailed above for a Research Report, omitting Introduction through Discussion, and include a conclusion. An abstract must also be included. The length of the review article is at the discretion of the author but should be within reasonable limits. The Editor-in-Chief can be consulted regarding reviews of unusual length.

Systematic reviews or meta-analyses that include a methods section are typically considered as a Research report and should be formatted as such.

Short Communications
A short communication is an article of original scholarship of unusual interest of less than 1500 words (not including references). An abstract of 100 words or less should be included with no subdivison of text into sections. References should be formatted as above. A total of two tables and/or figures are allowed.

A hypothesis article should be a balanced and insightful consideration of a topic with novel hypotheses well presented and supported. The article should be prepared as a Research Report but without Methods or Results sections.

Book Reviews
Book reviews should be 750 words or less and without sections. Suggestions can be proposed to the Editors-in-Chief.

Letters to the Editor
Authors can submit comments of 1000 words or less concerning prior articles published in JHD to the Editors-in-Chief through the Editorial Office (

Commentaries can be around 1000 words with an abstract and no other subdivisions.


In cover letter:
Name, postal address, phone number, fax number and e-mail address of the corresponding author.
- Name of an Associate Editor with expertise in the area of the study (if no Associate Editor is suitable, the Editorial Office will handle the submission).
- Statement that all authors have contributed to the work, agree with the presented findings, and that the work has not been published before nor is being considered for publication in another journal.
- A list of at least 4-6 potential reviewers knowledgeable in the area of the study and potential reviewer conflicts.
- Statement that procedures involving experiments on human subjects are done in accord with the ethical standards of the Committee on Human Experimentation of the institution in which the experiments were done or in accord with the Helsinki Declaration of 1975.
- Statement that procedures involving experimentation on animal subjects are done in accord with either the guide of the institution in which the experiments were done, or with the National Research Council's guide for the care and use of laboratory animals.

In manuscript:
Compliance with guidelines on human experimentation as well as protocol approval by a local Institutional Review Board should be specified.
- Compliance with guidelines of animal experimentation as well as protocol approval by the Institutional Animal Care and Use Committee should be specified.
- Statement of all financial and material support for this research and any potential conflicts should also be clearly identified in the the acknowledgment and Conflict of Interest sections. If there is no Conflict-of-Interest then still add this statement.

Resubmissions should include the manuscript number and a reference that the paper is a revision. The point-by-point response to the previous reviews should be included at the top of the manuscript. 

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Treatabolome Project Designed to Shorten Diagnosis-to-Treatment Time for Patients with Rare Diseases

01 Jun 2021 - Amsterdam, NL – The Treatabolome project is a research initiative to develop a freely available, interoperable online platform dedicated to disseminating rare disease and gene-specific treatment information to healthcare professionals regardless of their level of specialized expertise. Developed under the Solve-RD European Research Project, it is intended to reduce treatment delays for patients with rare diseases by directly linking diagnosis and treatment information. This initiative is highly relevant to neuromuscular disorders as they are rare diseases by definition. In this special issue of the Journal of Neuromuscular Diseases, experts contribute Treatabolome-feeding systematic literature reviews on rare neurological and neuromuscular disorders. ...

New Study Expands Evaluation of Gene Therapy for Spinal Muscular Atrophy

06 Apr 2021 - Amsterdam, NL – The rarity of spinal muscular atrophy (SMA) means that promising new treatments may be tested in only a limited spectrum of patients before approval. Investigators evaluated a newly approved drug, onasemnogene abeparvovec, in a broader spectrum of patients in order to obtain expanded data on its side effects profile. They report in the Journal of Neuromuscular Diseases that the drug is associated with an immune response against the adeno-associated viral vector and needs careful monitoring, but showed no long-term adverse effects....

Neuromuscular Disease Registry Helps Patients Access Research, Clinical Trials, New Genetic Tests, and Therapies

02 Feb 2021 - Amsterdam, NL– The Canadian Neuromuscular Disease Registry (CNDR) was launched in 2010 to increase efficient patient access to cutting-edge research and clinical trials, to increase understanding of the natural history and epidemiology of neuromuscular disease across Canada, and to facilitate research collaboration. An assessment of CNDR’s accomplishments, published in the Journal of Neuromuscular Diseases, found that it has been successful in securing funding and engaging the community over the past 10 years. With more than 4,000 enrolled patients, data from the registry have been used in over 125 research projects as of 2019, including clinical trial and research notifications, patient questionnaires, and data analyses around patient outcomes and care....

Treat Early or Wait? Experts Ponder Best Way to Manage Milder Forms of Spinal Muscular Atrophy

11 Jun 2020 - Amsterdam, NL – The advent of therapeutic interventions for spinal muscular atrophy (SMA) has increased the importance of presymptomatic diagnosis and treatment. When to start treatment in children with less severe disease remains controversial. Now, in a report published in the Journal of Neuromuscular Diseases, German researchers argue for an earlier start of treatment to prevent permanent nerve damage, challenging recommendations originally proposed by a group of American experts that suggests a strict follow-up strategy for children expected to have less severe disease....

Nusinersen Improves Motor Function in Adults with Spinal Muscular Atrophy

11 Nov 2019 - Amsterdam, NL – A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more. These findings prove the efficacy of Nusinersen beyond types and age groups, paving the way for adult treatment....

New Analysis Shows Drug Slows Down Respiratory Decline in Patients with Duchenne Muscular Dystrophy in Three Clinical Trials

09 Jul 2019 - Amsterdam, NL – Duchenne muscular dystrophy occurs in boys and is characterized by progressive muscle degeneration and weakness leading to a decline in respiratory function. Strategies to arrest this severe progressive deterioration are needed to extend lives and improve quality of life. Results of three clinical trials using eteplirsen, an exon-skipping antisense oligonucleotide, show promising results, according to a study published in the Journal of Neuromuscular Diseases....

Researchers Identify Potential Modifier Genes in Patients with Charcot-Marie-Tooth Disease

18 Jun 2019 - Amsterdam, NL – Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological disorder affecting peripheral motor and/or sensory nerves in humans. Monogenic disorders like CMT1A, CMT’s most prevalent subtype, are caused by a single gene defect. However, its clinical presentation and severity can vary widely, leading doctors to wonder what factors might be responsible for these differences. A study published in the Journal of Neuromuscular Diseases reveals that while all patients with CMT1A share a single gene defect, at least four clinical characteristics were found to be associated with secondary modifying genes. ...

New Drug for Duchenne Muscular Dystrophy Clears Phase 1 Clinical Trial Testing in Boys

21 Feb 2019 - Amsterdam, NL – Patients with Duchenne muscular dystrophy (DMD) have few treatment options. Medications currently available or in development either target only a subset of DMD patients with a particular genetic mutation or cause significant side effects. The investigational drug edasalonexent, an oral NF-κB inhibitor, has the potential to slow the progression of the disease for all patients with DMD. The results of a Phase I clinical trial published in the Journal of Neuromuscular Diseases indicate that the drug was well tolerated with no safety issues in boys with DMD, paving the way for further clinical testing. ...

Expand the Role of Patients, the True Experts, in Neuromuscular Disease Research, Concludes International Workshop

06 Feb 2019 - Amsterdam, NL – The old-fashioned paternalistic relationship between doctors and patients has gradually evolved into a more collaborative one in the era of patient-centered medicine. Shared decision-making (SDM), in which doctors and patients jointly decide on treatment or care, has emerged as a gold standard model of healthcare. Yet considerably less attention has been given to obtaining the patient’s perspective on neuromuscular research on such matters as research objectives, study design, or even consent. A position paper in the Journal of Neuromuscular Diseases describes conclusions reached at an international workshop that focused on finding creative solutions to integrate and enhance the patient's point of view in neuromuscular research. ...

Monitoring Lung Function at Home in Teens with Duchenne Muscular Dystrophy Just Got Easier

17 Dec 2018 - Amsterdam, NL – Heart and lung complications are responsible for much of the morbidity and mortality associated with Duchenne muscular dystrophy (DMD). Although regular monitoring of pulmonary function is recommended in order to detect deterioration, compliance with routine testing, such as hospital-based spirometry, is frequently poor. A new study in the Journal of Neuromuscular Diseases describes the at-home use of a child-compatible, hand-held device that makes monitoring pulmonary function in teens more convenient and provides the data needed for better disease management....

Early Treatment with Nusinersen Can Mean Better Outcomes for Babies with Spinal Muscular Atrophy

16 Jul 2018 - New findings suggest SMA should be routinely included in newborn screening for early diagnosis, according to research published in the Journal of Neuromuscular Diseases...

Analysis of Global Duchenne Muscular Dystrophy Patients Registry Underscores the Benefits of Corticosteroid Treatment and Heterogeneity of the Disease

01 Feb 2018 - New Analysis in the Journal of Neuromuscular Diseases Highlights How a Comprehensive Database Can Improve Treatment and Drive Research...

Researchers Seek Biomarker to Assess Spinal Muscular Atrophy Treatment

16 Jun 2017 - Amsterdam, NL – Spinal muscular atrophy (SMA) is the leading genetic cause of death in infants, affecting 1 in 11,000 live births. As promising new therapies such as those directly targeting survivor motor neuron (SMN) are entering clinical trials for infants, children, and adults with SMA, researchers are searching for biomarkers in blood that can monitor their effectiveness. Investigators now report in the Journal of Neuromuscular Diseases that SMN levels in blood do not track SMN levels in motor neurons, and therefore are not an informative biomarker for SMN-modulating therapies that are delivered intrathecally. Beyond providing important information for SMA trial planning going forward, their results also highlight the importance of carefully validating specific biomarkers in a preclinical trial situation....

2017 Neuroscience & Neurology brochure available

06 Jun 2017 - IOS Press Neuroscience & Neurology brochure...

Targeted Therapy for Sleep Disorders Helps Patients with Muscular Dystrophy

17 Jan 2017 - Newcastle-upon-Tyne, UK – Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy, and many patients with DM1 suffer from various sleep and respiratory disorders. In a study in the current issue of the Journal of Neuromuscular Diseases, researchers found that because there is wide range of sleep problems, treatments do not fit a “one size fits all” model....

Not All Europeans Receive the Same Care for Duchenne Muscular Dystrophy

03 Jan 2017 - Duchenne muscular dystrophy (DMD), a progressive muscle disease affecting one in 3800-6300 live male births and leads to ambulatory loss, respiratory problems, cardiomyopathy, and early death of patients in their 20s or 30s. While incurable, multidisciplinary treatment can raise life expectancy into the fourth decade. However, in a survey across seven European countries, researchers found striking differences in access to appropriate care. There were significant inequities between different countries and different age groups, which would likely lead to different health outcomes....

New Method to Grow and Transplant Muscle Stem Cells Holds Promise for Treatment of Muscular Dystrophy

28 Jun 2016 - Satellite cells are stem cells found in skeletal muscles. While transplantation of such muscle stem cells can be a potent therapy for degenerative muscle diseases such as Duchenne muscular dystrophy, these cells tend to lose their transplantation efficiency when cultured in vitro. In a study in the current issue of the Journal of Neuromuscular Diseases, researchers treated these stem cells with leukemia inhibitory factor (LIF), which effectively maintained the undifferentiated state of the satellite cells and enhanced their transplantation efficiency. ...

New Neuroscience & Neurology Brochure Available

01 Apr 2016 - Journals and Books...

Phase 2 Clinical Trial to Treat Rare Hereditary Muscle Disease Shows Promise

23 Feb 2016 - Researchers present the first clinical study that provides evidence that an extended-release sialic acid supplement may stabilize muscle strength in patients with GNE myopathy (GNEM), a rare hereditary, progressive, adult-onset muscle disease....

Cardiac and Respiratory Function Supported by Abdominal Muscles in Muscular Dystrophy

27 Feb 2015 - The muscular dystrophies are known to target various muscle groups differentially. In addition to making limb muscles weak, muscular dystrophy (MD) can also lead to decreased function of specific muscles involved in respiration causing breathing difficulties as well as leading to cardiac problems. ...

Researchers Identify Mitochondrial Mutation Linked to Congenital Myasthenic Syndrome

24 Jun 2014 - Although significant progress has been made over the last 25 years to identify genetic abnormalities associated with congenital myasthenic syndromes (CMS), many patients remain genetically undiagnosed. A report in the inaugural issue of the Journal of Neuromuscular Diseases identifies a gene defect in mitochondria, specifically the citrate carrier SLC25A1, that may underlie deficits in neuromuscular transmission seen in two siblings....