Journal of Neuromuscular Diseases

Share this journal
ISSN print
2214-3599
ISSN online
2214-3602
Volume
4; 4 issues
Status
Last issue (4:3) published on 29 August 2017
Next issue
4:4 scheduled for November 2017
Back volumes
1-3
Subject
Biochemistry, Medicine & Health, Neurosciences
Institutional subscription for 2017 €325 / US$420 Excluding VAT
Subscribe to Print

Journal of Neuromuscular Diseases accepted for inclusion in PubMed (MEDLINE®)

We are proud to announce that the Journal of Neuromuscular Diseases has been 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 of Neuromuscular Diseases going back to Volume 1/Number 1 will soon be available in the Pubmed database.

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.

Editors-in-Chief

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

Hanns Lochmüller, MD, PhD
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Newcastle upon Tyne, United Kingdom
Email: hanns.lochmuller@ncl.ac.uk

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

Kate Bushby, MD, FRCP
Newcastle University, Department of Neuromuscular Genetics, Newcastle upon Tyne, United Kingdom

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

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
National Institute of Environmental Health Sciences, NIH, Environmental Autoimmunity Group, Bethesda, 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

Kate Bushby, MD, FRCP
Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, United Kingdom

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

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

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

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

Pierre Carlier, MD, PhD
Université Pierre et Marie Curie, NMR Laboratory - Spectroscopy Laboratory, Paris, 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 

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

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

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

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

SUBMISSION OF MANUSCRIPT

Authors are requested to submit their manuscript electronically to the journal’s editorial management system.

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 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 more information about submitting supplementary data see “Supplementary Data.”

Resubmissions should include the manuscript number in the cover letter. Resubmissions should clearly mention that the submission is a Revision and include the reference number in the submission letter. The author's replies to the reviewer comments should be included in the revised manuscript itself (at the top). The revised paper should always be a Word document.

Submission of a Review paper should be clearly mentioned in the cover letter to help the editorial process.

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. By submitting the paper the author agrees to the Author Copyright Agreement.

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 recommended to seek the advice of a native English speaker, if possible, before submitting their manuscripts. You can also visit Peerwith. 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 (2.5cm or 1in), 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.

3. 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 and email address.
  • Leave the author information blank if double-blind peer review is wished for, 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:
BACKGROUND: 
OBJECTIVE:
METHODS: 
RESULTS:
CONCLUSIONS:
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.

Introduction

Materials and Methods
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.

Results

Discussion

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".

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.

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.

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 Material
Supplementary material can be submitted with the manuscript, included within the manuscript after the Figures and Tables (or otherwise after the References). Each supplementary item should have a legend and should not exceed the file size of 10MB. Supplemental videos can be submitted separately (see top of page for submission guidelines of videos). A short description of the supplementary items should be included under the header of “Supplementary Material” within the manuscript before the “References”. Supplementary material will be made available in the format in which it was provided. Large datasets should be hosted on the author’s own or institute’s website or in an appropriate database, and should be properly cited within the manuscript.

Review Articles
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.

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.

Case Reports
Clinical case reports will be considered for publication, but they should feature some novelty, such as improving our understanding of a pathomechanism.

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 JND to the Editors-in-Chief through the Editorial Office.

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 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.
- If there are Figures with recognizable patients then the patient permission for use of the Figure should be specified in the Figure legend.
- 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. 

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

Accepted articles will be placed online as "pre-press" articles two weeks after acceptance. The corresponding author will receive the PDF proof around the same time, and is asked to check this proof carefully (the publisher will execute a cursory check only). Corrections other than printer's errors should be avoided. Costs arising from excessive corrections will be charged to the authors. The pre-press file will remain as the uncorrected proof version until the article is published in an issue and the final published version replaces the pre-press file.

OPEN ACCESS MANDATES

A growing number of funding agencies now require that research articles they have funded must be made Open Access. This may be either by mandating deposit in repositories after an embargo period or by stipulating that research is published as Open Access. Publishing in this journal complies with all major funding agency requirements.

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 immediately upon publication. All Open Access articles are published under the terms of the Creative Commons Attribution Non-Commercial License.

If requested by the author, Research Councils UK (RCUK) and Wellcome Trust funded Open Access articles will be published under the terms of the Creative Commons Attribution License (CC-BY). An extra fee applies for CC-BY publications.

Please click here to pay the Open Access fee.

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 €100/US$120 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.

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.

Quoting from other publications
An author, when quoting from someone else's work or when considering reproducing figures or table from a book or journal article, should make sure that he is not infringing a copyright. Although in general an author may quote from other published works, he should obtain permission from the holder of the copyright if he wishes to make substantial extracts or to reproduce 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.

Quoting from Journal of Neuromuscular Diseases

Permissions for use of materials published in JND Reports (figures, tables, thesis publication) can be requested at publisher@iospress.nl.

COMPLIMENTARY COPY AND PURCHASE

Complimentary copy
The corresponding author of a contribution to the journal is entitled to receive 1 author’s copy of the pdf free of charge, unless otherwise stated. Free copies will not be provided for conference proceedings and abstract issues.

How to order reprints, a pdf file, journals, or IOS Press books
An order form for reprints, additional journal copies or a non-watermarked pdf file will be provided along with the pdf proof.
If you wish to order reprints of an earlier published article, please contact the publisher for a quotation. IOS Press, Fax: +31 20 6870039. 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.

KUDOS

Authors of published articles (non-prepress, final articles) will be contacted by Kudos. Kudos is a service that helps researchers maximize the impact and visibility of their research. It allows authors to enrich their articles with lay metadata, add links to related materials and promote their articles through the Kudos system to a wider public. Authors will receive no more than three emails: one invitation and a maximum of two reminders to register for the service and link the published article to their profile. Using and registering for Kudos remains entirely optional. For more information, please have a look at our authors section.

 

Embase
Google Scholar
MEDLINE
Pubmed
PubmedCentral
Scopus

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....

IOS Press partners with Kudos

12 Jan 2016 - IOS Press is happy to announce its partnership with Kudos (www.growkudos.com), an award winning service that helps researchers maximize the impact and visibility of their research. Kudos allows authors to enrich their articles with lay metadata, add links to related materials and promote their articles through the Kudos system to a wider public. From their personal dashboard, authors can track how often their articles are viewed and shared through Kudos. The service will be available to authors of all IOS Press journal articles starting the first quarter of 2016. ...

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....