Listen now: the second episode of the Journal of Neuromuscular Diseases Podcast entitled: 'Genetic Testing in SMA with Angela Abicht and Teresa Neuhann'
Call for Papers for the Special Issue "RNA Therapeutics in Neuromuscular Disorders" (Submission Deadline: November 1, 2024)

Journal of Neuromuscular Diseases

Impact Factor
2024
3.2
CiteScore
2024
5.1

Volume

11, 6 issues

Latest issue

11:4 online 02 July 2024

Next issue

11:5 scheduled for September 2024

Back volumes

From volume 1, 2014

ISSN print

2214-3599

ISSN online

2214-3602
Open Access

Aims & Scope

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.

From July 1, 2023 the Journal has transformed to an open access model.

Editorial Board

Editors-in-Chief

Carsten G. Bönnemann, MD
National Institute of Neurological Disorders and Stroke
NIH, Neuromuscular and Neurogenetic, Disorders of Childhood Section
Bethesda, MD
USA
Email: carsten.bonnemann@nih.gov

Hanns Lochmüller, MD, PhD
Children's Hospital of Eastern Ontario
Research Institute, University of Ottawa
Ottawa, ON
Canada
Email: hanns.lochmuller@gmail.com

Associate Editors for Reviews

Gisèle Bonne, PhD
Center of Research in Myology, Inserm, Sorbonne Université
Paris, France

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

Associate Editors

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

Jeff Chamberlain, PhD
Medicine and Biochemistry, Department of Neurology, University of Washington
Seattle, WA, USA

Giacomo Comi, MD
Department of Neurology, University of Milan
Milan, Italy

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

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

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

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

Eric P. Hoffman, PhD
Binghamton University, State University of New York
Binghamton, NY, USA

Jyoti K. Jaiswal
Children’s National Hospital/George Washington University School of Medicine
Washington, DC, USA

Janbernd Kirschner
Department of Neuropediatrics and Muscle Disorders, Medical Center – University of Freiburg
Freiburg, Germany 

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

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

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

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

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

Social Media Editor

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

Editorial Board

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

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

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

David Beeson, PhD
Department of Medicine, University of Oxford
Oxford, UK

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

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

Craig Blackstone, MD, PhD
Department of Movement Disorders Division, Massachusetts General Hospital/Harvard Medical School
Boston, MA, USA
    
Bernard Brais, MD, PhD
Department of Neurology, CHUM Research Centre – Hopital Notre-Dame
Montreal, QC, Canada

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

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

Steven Burden, PhD
Department of Neuroscience and Physiology, New York University Medical Center
New York, NY, USA
    
Gillian Butler-Browne, PhD
Université Pierre et Marie Curie
Paris, France
    
Craig Campbell, MD
University of Western Ontario, Department of Pediatrics, Clinical Neurological Sciences and Epidemiology
London, ON, Canada

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

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

Patrick Chinnery, PhD
Department of Clinical Neurosciences, University of Cambridge
Cambridge, UK

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

Giulio Cossu, MD
University of Manchester, Institute of Inflammation and Repair
Manchester, UK

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

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

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

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

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

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

Sandra Donkervoort
National Institute of Neurological Disorders and Stroke Neurogenetics Branch Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH
Bethesda, MD, USA

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

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

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

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

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

Justin Fallon, PhD
Department of Neuroscience, Brown University
Providence, RI, USA
    
Alessandra Ferlini, MD, PhD
Department of Medical Science, University of Ferrara
Ferrara, Italy

Richard Finkel, MD
St. Jude Children's Research Hospital
Memphis, TN, USA
    
Kenneth Fischbeck, MD
Neurogenetics Branch, NIH
Bethesda, MD, USA

Kevin M. Flanigan, MD
Department of Neurology, Nationwide Children's Hospital
Columbus, OH, USA
    
Bertrand Fontaine, MD, PhD
Department of Neurology, CRICM
Paris, France

A. Reghan Foley,
Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, NIH
Bethesda, MD, USA

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

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

Sweta Girgenrath, PhD
Department of Cardiovascular and Neuromuscular Therapeutic Areas, Entrada Therapeutics
Boston, MA, USA

Hans Goebel, MD
Department of Neuropathology, Charité - Universitätsmedizin Berlin
Berlin, Germany
    
Nathalie Goemans, MD
Department of Paediatrics and Child Neurology, UZ Leuven
Leuven, Belgium

Svetlana Gorokhova, MD, PhD
Marseille Medical Genetics Institute, Aix Marseille University
Marseille, France

Robert C. Griggs, MD
Department of Neurology, University of Rochester Medical Center
Rochester, NY, USA
    
Miranda D. Grounds, PhD
Department of Anatomy and Human Biology, University of Western Australia
Crawley, WA, Australia

Denis C. Guttridge, PhD
Department of Pediatrics, Medical University of South Carolina
Charleston, SC, USA

Göknur Haliloğlu
Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University
Ankara, Turkey

Mike Hanna, MD
Institute of Neurology, UCL Institute of Neurology
London, UK

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

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

Rita Horvath, PhD
Department of Clinical Neurosciences, University of Cambridge
Cambridge, UK

Johnny Huard, PhD
Department of Linda & Mitch Hart Center for Regenerative and Personalized Medicine, Steadman Philippon Research Institute
Vail, CO, USA

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

Kanneboyina Nagaraju, DVM, PhD
Binghamton University, State University of New York
Binghamton, NY, USA

Petra Kaufmann, MD
National Center for Advancing Translational Sciences (NCATS)
Bethesda, MD, USA

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

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

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

Dimitri Kullmann, MD, PhD
Institute of Neurology, UCL
London, UK

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

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

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

Nicolas Lévy
Laboratory of Molecular Genetics, Department of Medical Genetics, Children’s Hospital La Timone
Marseille, France

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

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

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

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

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

Payam Mohassel, MD
Department of Neurology, Johns Hopkins University
Baltimore, MD, USA

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

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

Vincenzo Nigro, PhD
Telethon Undiagnosed Program, Department of Precision Medicine, University of Campania Luigi Vanvitelli
Caserta, Italy

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

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

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

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

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

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

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

Mary Reilly, MD
Institute of Neurology, UCL
London, UK
    
Isabelle Richard, PhD
Généthon – CNRS UMR8115, "Limb-Girdle Muscular Dystrophies" Lab
Evry, France

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

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

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

Ulrike Schara
Neuropediatrics, Universitätsklinikum Essen
Essen, Germany

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

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

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

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

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

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

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

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

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

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

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

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

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

Haluk Topaloglu, MD
Department of Pediatrics, Neurology, Hacettepe University
Ankara, Turkey
    
Antonio Toscano, MD
Department of Neurology, University of Messina
Messina, Italy

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

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

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

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

John Vissing, MD
Department of Neurology, University of Copenhagen
Copenhagen, Denmark
    
Dominic Wells, VetMB, PhD, MRCVS, FHEA, FSB
Department of Comparative Biomedical Sciences, The Royal Veterinary College
London, UK

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

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

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

Massimo Zeviani, MD, PhD
Venetian Institute of Molecular Medicine, University of Padova
Padova, Italy

Author Guidelines

SUBMISSION OF MANUSCRIPT

PLEASE SUBMIT YOUR MANUSCRIPT HERE

ANNOUCEMENT: The Journal of Neuromuscular Diseases has transitioned to an open access model. From May 1, 2023, submitting authors are required to agree to the article processing charge for open access publication on submission. The default pricing is US$1500 / EUR1500 for a CC-BY NC open access license. There is also an option to select the CC BY 4.0 license for US$2150 / €2150, which is required by certain funders. Waivers should be requested before submission. Invited articles are exempt from the charges. More detailed information can be found on this website through the tab “Open Access”.

SUBMISSION POLICY

By submitting my article to this journal, I agree to the Author Copyright Agreement, the IOS Press Ethics Policy, 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. The double-blind peer review can only be activated from first submission onwards.

Note that the manuscript should be uploaded as a Word document. Figures, tables and supplementary material can be uploaded separately. A supplemental file such as a video can also be included with the submission (the file size maximum for a video is 25MB). If the video is too large to submit, please contact jnd@iospress.com to arrange a file transfer. For further information about submitting supplementary data please scroll down the page to the header “Supplementary Material”.

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 jnd@iospress.com 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.

Article Publishing Charge
The Journal of Neuromuscular Diseases applies a required article publishing charge from May 1, 2023, onwards. More detailed information can be found on this website through the tab “Open Access”.

ETHICS POLICIES AND PATIENT PERMISSIONS

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).

PREPARATION OF MANUSCRIPTS

Research Reports

Organization and style of presentation

  1. Manuscripts must be written in English. Authors whose native language is not English are advised to consult a professional English language editing service or a native English speaker prior to submission.
  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.

Please read the IOS Press authorship policy for further information.

Abstract and Keywords
-The abstract for research papers should follow the "structured abstract" format:
BACKGROUND:
OBJECTIVE:
METHODS:
RESULTS:
CONCLUSIONS:
The abstract should try to be no longer than 300 words.

- For other papers such as Reviews, the abstract should be clear, descriptive, and self-explanatory, and no longer than 300 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.

Introduction

Materials and Methods

Results

Discussion

Acknowledgments

Include individuals or companies which have assisted with your study, including advisors, administrative support and suppliers who may have donated or given materials used in the study.

If there are no acknowledgments, then do still include this section and insert: "The authors have no acknowledgments to report."

Funding

Include all funding sources for the study. If there is no funding involved, then do still include this section and insert: "The authors have no funding to report."

Conflict of Interest

All affiliations or financial involvement (e.g., employment, consultancies, honoraria, stock ownership or options, expert testimony, grants, patents received or pending, royalties) with any organization or entity with a financial interest in, or in financial competition with, the subject matter or materials discussed in the manuscript must be disclosed in the submitted manuscript.

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". If an author is also on the Editorial Board of this journal, the following statement should be included in this section: "<AUTHOR> is an Editorial Board member of this journal, but was not involved in the peer-review process nor had access to any information regarding its peer review.''

Datasets/Data Availability Statement (Required for Research Reports, Short Communications, and Systematic Reviews/Meta-Analyses). All datasets and data articles cited in your manuscript should be included in the reference list of your article (not in a separate box or in the article text). Data references should include: author name(s), dataset title, data repository, version (where available), year, and identifier (DOI/URL/etc.). Authors should include a Data Availability statement at the end of the manuscript (before the References) to describe the availability or the absence of shared data. Authors are required to deposit sequence or proteomic data into a public repository (eg. GEO, Chorus) and include a link to the repository and data, and encouraged to publicly archive their research data including, but not limited to: software, algorithms, protocols, methods, and/or materials. Exceptions are made if sharing data compromises ethical standards or legal requirements.

Examples for your paper's "Data Availability" statement:

  1. The data supporting the findings of this study are openly available in [repository name] at [DOI and/or URL]. These data were derived from the following resources available in the public domain: [list resources and URLs].
  2. The data supporting the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
  3. The data supporting the findings of this study are available within the article and/or its supplementary material.
  4. Data sharing is not applicable to this article as no datasets were generated or analyzed during this study.

References
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: www.cancer.ca/.
[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).

Tables
- 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.

Figures
- 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, large tables, 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 (ie. it will not have any typesetting done).

Supplementary material can be included separately at the time of submission. In the case that the file is too big to submit, these can be submitted separately to the Managing Editor (jnd@iospress.com). 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.

Statement on AI
The Journal of Neuromuscular Diseases does not allow AI tools to be listed as an author of a paper. AI tools cannot meet the requirements for authorship as they cannot take responsibility for the submitted work. As non-legal entities, they cannot assert the presence or absence of conflicts of interest nor manage copyright and license agreements.

Authors who use AI tools in the writing of a manuscript, production of images or graphical elements of the paper, or in the collection and analysis of data, must be transparent in disclosing in the Materials and Methods (or similar section) of the paper how the AI tool was used and which tool was used. Authors are fully responsible for the content of their manuscript, even those parts produced by an AI tool, and are thus liable for any breach of publication ethics.

Reviews
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.

Hypotheses
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
These are short letters to JND that are either:
A). Relating to a specific issue/case history. Authors can submit a Letter to the Editor of 1000 words or less for possible inclusion. The Letter should include an abstract (100 words max) but no other subdivisions, and should not include more than 15 references and one figure or table.

B). A response to a specific article published in JND or elsewhere. Inclusion in JND will be based on editorial decision and revision may be requested. Letters relating to a previously published article will be shared with the authors of the original article for possible response prior to publication. The language used in the Letter should at all times remain professional. Letters should not exceed 500 words (excluding references) and should not include more than 5 references and one figure or table. Submit these to jnd@iospress.com.

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

REMEMBER TO INCLUDE

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
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. Please submit a tracked version of the paper so editors and reviewers can easily find the changes, or otherwise highlight the edited sections by color or by another detectable way.

Financial Disclosure
All affiliations with or financial involvement (e.g., employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, royalties) with any organization or entity with a financial interest in or in financial competition with the subject matter or materials discussed in the manuscript are completely disclosed in the letter of submission.

All financial and material support for this research and work are clearly identified in the manuscript including listing of support specified in the letter of submission that might constitute or give the appearance of influencing the findings, based on the judgment of the Editor-in-Chief in consultation with the Associate Editor handling the review of the manuscript.

PRE-PRESS AND PROOFS

The corresponding author will receive a pdf proof and is asked to check this proof carefully (the publisher will execute a cursory check only). Corrections other than printer's errors, however, should be avoided. Costs arising from such corrections will be charged to the authors. Please be sure to return your corrections as quickly as possible.

The corrected proofs will be placed in the online contents as a pre-press, and indexed in PubMed as "Epub ahead of print" article, after corrections are received from the authors. The pre-press article is fully citable by using the DOI number. This is not the final version. When the article is published in an issue, the final, updated version replaces the pre-press version.

Note: Any changes to authors or title after acceptance should also be sent to the editorial office (jnd@iospress.com) so our records can be updated. After acceptance, any additions or deletions to the list of authors MUST be approved by the Editor-in-Chief, and all authors on the manuscript must also sign off on the changes. Please see the section “Changes in Authorship” above for more information.

OPEN ACCESS

Gold Open Access Publishing (Open Access Option)

The open access option helps authors to comply with major funder mandates. This option allows authors the choice of paying a fee to make their article publicly available on the journal’s website immediately upon publication. The publisher will also deposit the final, published version of the open access article into PubMed Central within a month of the final publication. All open access articles are published under the terms of the Creative Commons Attribution Non-Commercial License (CC BY-NC).

The journal is compliant to publish articles funded by Research Councils UK (RCUK) and Wellcome Trust, which are under mandate to publish under the terms of the Creative Commons Attribution License (CC BY). After acceptance of the article, the author can select the preferred CC BY license in the provided open access payment form, which is linked in the acceptance letter. An extra fee applies for CC BY publications.

Green Open Access Publishing (Self-Archiving)

Authors who do not select open access publication may self-archive and post the final manuscript version on their own institution, company or funding agency repositories immediately upon acceptance. Authors that are funded by the NIH, Research Councils UK (RCUK) and Wellcome Trust are welcome to deposit their final manuscript version to PubMed Central (Submission Method C) and Europe PubMed Central immediately upon acceptance. In all cases a publication reference and URL to the journal’s website must be provided on the first page of the manuscript.

Alternatively, the author can submit the final published pdf version of the article, which can be ordered from IOS Press. This service costs €150/US$170 and an order form will be sent with the galley proof of the article to the corresponding author. Ordered PDFs will be sent to the author after final publication of the article in an issue. IOS Press holds to no embargo period after final publication. Orders for a PDF of published articles can also be sent to order@iospress.nl.

See also the IOS Press Open Library for more information about open access options and you can check if there are any institutional agreements that you might be eligible for.

COPYRIGHT

Copyright of your article
Authors submitting a manuscript do so on the understanding that they have read and agreed to the terms of the IOS Press Author Copyright Agreement.

Article sharing
Authors of journal articles are permitted to self-archive and share their work through institutional repositories, personal websites, and preprint servers. Authors have the right to use excerpts of their article in other works written by the authors themselves, provided that the original work is properly cited. The consent for sharing an article, in whole or in part, depends on the version of the article that is shared, where it is shared, and the copyright license under which the article is published. Please refer to the IOS Press Article Sharing Policy for further information.

Quoting from other publications
Authors, when quoting from someone else's work or when considering reproducing figures or tables from a book or journal article, should make sure that they are not infringing a copyright. Although in general authors may quote from other published works, permission should be obtained from the holder of the copyright if there will be substantial extracts or reproduction of tables, plates, or other figures. If the copyright holder is not the author of the quoted or reproduced material, it is recommended that the permission of the author should also be sought. Material in unpublished letters and manuscripts is also protected and must not be published unless permission has been obtained. Submission of a paper will be interpreted as a statement that the author has obtained all the necessary permission. A suitable acknowledgement of any borrowed material must always be made.

COMPLIMENTARY COPY AND PURCHASE

Complimentary copy
The corresponding author of a contribution to the journal receives a complimentary PDF of their published article. The PDF is automatically sent to the corresponding author after the article is published in an issue.

Reprints and other orders

The online link to the published content can be shared freely. For commercial mailings of the PDF, please contact the editorial office (editorial@iospress.com). Free print copies of an issue will not be provided for conference proceedings and abstract issues unless agreed upon in advance.

The possibility to place orders for reprints, additional journal copies, or print color figures can be done through an order form to which the corresponding author will be provided a link in the decision letter. If you wish to order reprints of an earlier published article, please contact the publisher for a quotation. IOS Press email: editorial@iospress.nl.

An author is entitled to 25% discount on IOS Press books. See Author's Discount (25%) on all IOS Press book publications.

HOW TO PROMOTE YOUR WORK

Would you like some pointers on how to help your research achieve a wider reach and greater impact? Please consult our Promotional Toolkit for Authors for tips.

Please visit the IOS Press Authors page for further information.

Abstracted/Indexed in

Cabell's Guide or Directory
Embase
Google Scholar
MEDLINE
Pubmed
PubmedCentral
Scopus
Web of Science: Science Citation Index Expanded

Transition to Full Open Access publication from July 2023

From the July issue onwards, the Journal of Neuromuscular Diseases has transitioned to a full open access publication, with options for CC-BY NC or CC-BY 3.0 licenses. All submitted articles are required to agree to and pay the open access publishing charge, unless a waiver applies.

Authors will be able to choose between the default CC BY-NC 4.0 (non-commercial) license of € 1500 / US$ 1500, or the CC BY 4.0 license for € 2150 / US$ 2150, of which the latter is required by certain funders. Pricing is exclusive of possible taxes. After an article is accepted for publication, the corresponding author will be informed regarding the open access options and payment during the production stages.

Waivers
Waivers should be requested before submission of an article. Waivers are granted to low-income countries as defined by the Research4Life initiative, and can be requested through the editorial office (jnd@iospress.com). Articles that were invited by an Editor (usually for the Review section or a special issue) are exempt from the charges.

Articles published in Pre-July 2023 issues (up to Volume 10, issue 3, 2023):
A selection of articles published in the Journal of Neuromuscular Diseases before July 2023 are available only to institutions and individuals with access rights. Before publication, the journal offered all authors the option to purchase open access publication for their article as part of the IOS Press Open Library. This option remains available even after final publication in an issue, and the author can make use of the order form link provided in their acceptance letter. This means that after payment the final published version will then become freely available to anyone worldwide, indefinitely, under a Creative Commons license and without the need to purchase access to the article. This is also referred to as “gold” open access.

Gold Open Access Publishing
Journal of Neuromuscular Diseases is a gold open access journal from Volume 10, number 4, 2023 to enable all readership to access the articles freely and without paywall. The open access option also helps authors to comply with major funder mandates. Authors are required to pay article processing charges for their accepted article to move forward into the publication process. The payment link is provided in the acceptance letter. After final publication in an issue, the publisher will automatically deposit the article into PubMed Central within 4-6 weeks. All articles are published under the terms of the Creative Commons Attribution Non-Commercial License (CC BY-NC).

The journal is compliant to publish articles funded by Research Councils UK (RCUK) and Wellcome Trust, which are under mandate to publish under the terms of the Creative Commons Attribution License (CC BY). After acceptance of the article, the author can select the preferred CC BY license in the provided payment form, which is linked in the acceptance letter. Note that an extra fee applies for CC BY publications.

Green Open Access Publishing (Self-Archiving) for pre-July 2023 content
Authors who did not select open access publication before the journal’s transformation to an open access journal (up to Volume 10, number 4, 2023), may self-archive and post the final manuscript version on their own institution, company or funding agency repositories immediately upon acceptance. Authors that are funded by the NIH, Research Councils UK (RCUK) and Wellcome Trust are welcome to deposit their final manuscript version to PubMed Central (Submission Method C) and Europe PubMed Central immediately upon acceptance. In all cases a publication reference and URL to the journal’s website must be provided on the first page of the manuscript.

Alternatively, the author can submit the final published pdf version of the article, which can be ordered from IOS Press. This service costs €150/US$170 and an order form was sent with the galley proof of the article to the corresponding author. Ordered PDFs are sent to the author after completion of the payment. IOS Press holds to no embargo period after final publication. Orders for a PDF of published articles can also be sent to order@iospress.nl.

See also the IOS Press Open Library for more information about open access options and you can check if there are any institutional agreements that you might be eligible for.

PubMedCentral deposits
This journal deposits all open access articles in PubMedCentral (PMC) as part of the IOS Press Open Library. An article will appear in Pubmed Central 4-6 weeks after final publication in an issue.

Peer Review Policy

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. Please visit our reviewer guidelines for further information about how to conduct a review.

All submitted manuscripts are automatically screened for plagiarism through iThenticate. Manuscripts submitted to the journal 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 jnd@iospress.com). Authors will be informed in writing of the result of their appeal.

Journal of Neuromuscular Diseases Podcast
The second episode of the Journal of Neuromuscular Diseases Podcast is now live. Dive into the world of genetic testing in SMA with with Angela Abicht and Teresa Neuhann. Tune in now and be a part of the conversation that's shaping the future of neuromuscular disease care. Listen here!

JND Podcast

Full Open Access from July 2023
Starting with the July issue, 2023, the Journal of Neuromuscular Diseases has transitioned to a full Open Access journal. The Press Release for this news can be read here.

Social Media & New Sign Ups – JND is on Facebook and Twitter, with social media editor Dr. Grace McMacken 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 tiny.cc/JNDsignup. We send mailings with details of for new JND issues, plus other related news. You can read the latest newsletter here.

Science Citation Index-Expanded – As of June 2021, JND is covered in the Science Citation Index-Expanded category in the Web of Science, which has provided greater discoverability for JND articles leading to measurable citations and an impact factor of 3.3 in 2023.

Partnership with TNMD – As of December 2017, a new partnership was announced between JND and TREAT-NMD (treat-nmd.eu), 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@iospress.com). 

JND accepted for inclusion in PubMed (MEDLINE) – As of November 2016, the JND was selected for inclusion in MEDLINE, the largest component of PubMed. MEDLINE is searchable for free using PubMed at pubmed.gov. Citations and abstracts for articles published in the journal going back to Vol.1, Iss.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 1 month and a maximum of 4 months.

Latest Articles

Discover the contents of the latest journal issue:

Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases
Willianne A. van de Geest-Buit, Nathaniël B. Rasing, On Ying A. Chan, Karlien Mul, Anke Lanser, Baziel G.M. van Engelen, Corrie E. Erasmus, Agneta H. Fischer, Koen J.A.O. Ingels, Bart Post, Ietske Siemann, Jan T. Groothuis, Nicol C. Voermans

Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review
Ronne Pater, Nicoline Voet, Joana Garmendia, Andone Sistiaga, Garazi Labayru, Benjamin Gallais, Ingrid de Groot, Samar Muslemani, Cynthia Gagnon, Christopher Graham

Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis
A. Alemán, E. Landfeldt, S. Abner, R. Zhang, C. Werner, I. Tomazos, N. Ferizovic, H. Lochmüller, J. Kirschner

Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbent Assay1
Alessandra Dellavance, Larissa Diogenes, Danielle Cristiane Baldo, Sarah Cristina Gozzi-Silva, Kethellen Gomes, Monica Simon Prado, Luis Eduardo C. Andrade, Gerson Dierley Keppeke

Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes
Andreas Hentschel, Adela Della Marina, Artur Czech, Ulrike Schara-Schmidt, Corinna Preusse, Andreas Laner, Angela Abicht, Tobias Ruck, Joachim Weis, Catherine Choueiri, Hanns Lochmüller, Heike Kölbel, Andreas Roos

Sustainable Development Goals

The content of this journal relates to SDG:

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Visit the SDG page for more information.

Supporting Diversity and Inclusion

This journal supports IOS Press' actions relating to the Sustainable Development Goals (SDGs) and commits to the Diversity and Inclusion Statement.

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More information will be available in due course. Check the SDGs page for updates.

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