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.
Associate Editors for Reviews
Gisèle Bonne, PhD
Shin'ichi Takeda, MD, PhD
Annemieke Aartsma-Rus, PhD
Jeff Chamberlain, PhD
Claude Desnuelle, MD, PhD
Salvatore DiMauro, MD
James Dowling, MD, PhD
Tom Gillingwater, PhD, FAS, FRMS, MloD
Eric P. Hoffman, PhD
Nicolas Lévy, MD, PhD
Elizabeth McNally, MD, PhD
Frederick W. Miller, MD, PhD
Markus A. Ruegg, PhD
Stephan Züchner, MD, PhD
Social Media Editor
Grace McMacken, MD
Valérie Allamand, PhD
Zohar Argov, MD
Guillaume Bassez, MD, PhD
David Beeson, PhD
Alan Beggs, PhD
Craig Blackstone, MD, PhD
Bernard Brais, MD, PhD
Thomas Braun, MD, Dr. rer. nat.
Steven Burden, PhD
Gillian Butler-Browne, PhD
Kevin Campbell, PhD
Pierre Carlier, MD, PhD
Patrick Chinnery, PhD
Giulio Cossu, MD
Marinos Dalakas, MD, FAAN
Kay Davies, CBE, DBE, F.MedSci., FRS
John W. Day, MD, PhD
Annamaria De Luca, PhD
George Dickson, PhD
Madeleine Durbeej, PhD
James M. Ervasti, PhD
Karyn A. Esser, PhD
Bruno Eymard, MD, PhD
Justin Fallon, PhD
Alessandra Ferlini, MD, PhD
Richard Finkel, MD
Kenneth Fischbeck, MD
Kevin M. Flanigan, MD
Bertrand Fontaine, MD, PhD
Stanley C. Froehner, PhD
Luis Garcia, PhD
Sweta Girgenrath, PhD
Hans Goebel, MD
Nathalie Goemans, MD
Robert C. Griggs, MD
Miranda D. Grounds, PhD
Denis C. Guttridge, PhD
Mike Hanna, MD
Stephen Hauschka, PhD
Michio Hirano, MD
Rita Horvath, PhD
Johnny Huard, PhD
Isabel Illa, MD, PhD
Heinz Jungbluth, MD, PhD
Nagaraju Kanneboyina, DVM, PhD
Petra Kaufmann, MD
Qing Ke, PhD
Tejvir S. Khurana, MD, PhD
Janbernd Kirschner, MD
Dimitri Kullmann, MD, PhD
Siegfried Labeit, MD
Jocelyn Laporte, PhD
Lars Larsson, MD, PhD
Tom Lloyd, MD, PhD
Andrew Mammen, MD, PhD
Jerry R. Mendell, MD
Giovanni Meola, MD
Stella Mitrani-Rosenbaum, PhD
Marina Mora, PhD
Vincenzo Nigro, PhD
Ichizo Nishino, MD, PhD
Kathryn North, PhD
Kinji Ohno, MD, PhD
Eric Olson, PhD
Bradley B. Olwin
Davide Pareyson, MD
Thomas A. Rando, MD, PhD
Gina Ravenscroft, PhD
Mary Reilly, MD
Isabelle Richard, PhD
Lisa G. Rider, MD
Vittorio Sartorelli, MD
Jens Schmidt, MD
Benedikt Schoser, MD
Duygu Selcen, MD
Jan Senderek, MD
Michael E. Shy, MD
Werner Stenzel, MD
Volker Straub, MD, PhD
Maurice Swanson, PhD
Lee Sweeney, PhD
Kathryn J. Swoboda, MD
Rabi N. Tawil, MD
Charles A. Thornton, MD
Vincent Timmerman, PhD
Haluk Topaloglu, MD
Antonio Toscano, MD
Doug Turnbull, MD
Bjarne Udd, MD, PhD
Leonard van den Berg, PhD
Pieter van Doorn, MD, PhD
Gert-Jan van Ommen, PhD
Jan Verschuuren, MD
Angela Vincent, MBBS, (Hon PhD Bergen), FRCPath, FMedSci, FRS
John Vissing, MD
Dominic Wells, VetMB, PhD, MRCVS, FHEA, FSB
Hugh Willison, PhD
Steve Wilton, PhD
Peter Zammit, PhD
Massimo Zeviani, MD, PhD
SUBMISSION OF MANUSCRIPT
PLEASE SUBMIT YOUR MANUSCRIPT HERE.
Submission of an article is understood to imply that the article is original and unpublished and is not being considered for publication elsewhere. Any possible conflict of interest, financial or otherwise, related to the submitted work must be clearly indicated in the manuscript.
The article type (Research paper, Review paper, Editorial, Case Report, Letter to the Editor, etc) should be clearly mentioned in the cover letter to help the editorial process.
This journal operates with single-blind peer review. If the author prefers double-blind peer review, then please submit the manuscript excluding the author listing and make sure the document is anonymized, and list the authors and affiliations only in the cover letter for the Editor.
Note that the manuscript should be uploaded as one file with tables and figures included. This file can be a Word document, a PDF, or an embedded or zip file (.rar) if separate high resolution figures or a supplemental file such as a video are also to be included with the submission (the file size maximum for a video is 25MB). If the video is too large to submit, please contact firstname.lastname@example.org 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.
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).
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. Manuscripts submitted to the Journal of Neuromuscular Diseases will be assessed for suitability for publication in the journal by the Editors-in-Chief. Manuscripts that are deemed unsuitable may be rejected without peer review by the Editors-in-Chief and/or the Associate Editors, and the author will be informed as soon as possible. Manuscripts that are deemed suitable for peer review are forwarded to an Associate Editor with expertise in that area who then recruits appropriate anonymous referees (a minimum of two) for confidential review. Referee reports are then assessed by the Associate Editor, who makes a decision which is then subject to approval by the Editors-in-Chief. Once approved this decision is then conveyed to the author along with the referees’ anonymized reports.
The initial decision will be one of the following: rejection, acceptance without revision, or potentially acceptable after minor or major revisions. Revised manuscripts will be appraised by the Associate Editor, who may seek the opinion of referees (prior or new) before making a decision, which again is subject to approval of the Editors-in-Chief. Once approved, this decision is then conveyed to the author along with the anonymized referees’ reports. Once accepted, manuscripts are normally published on-line without delay and appear in the next available print issue (published quarterly).
The Editors-in-Chief have ultimate responsibility for what is published in the journal. Authors may appeal decisions by contacting the Editors-in-Chief (at email@example.com). Authors will be informed in writing of the result of their appeal.
PREPARATION OF MANUSCRIPTS
Organization and style of presentation
- Manuscripts must be written in English. Authors whose native language is not English are recommended to seek the advice of a native English speaker, if possible, before submitting their manuscripts. Peerwith offers a language and copyediting service to all scientists who want to publish their manuscript in scientific peer-reviewed periodicals and books.
- 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.
- 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.
- Manuscripts should be organized in the following order with headings and subheadings typed on a separate line, without indentation.
- Title (should be clear, descriptive and concise)
- Full name(s) of author(s)
- Full affiliation(s). Delineate affiliations with lowercase letters.
- Present address of author(s), if different from affiliation
- Running title (45 characters or less, including spaces)
- Complete correspondence address, including telephone number, fax number and e-mail address
Leave the author information blank if double-blind peer review is wished for and anonymize your document, but do include the information in the cover letter.
Changes in Authorship
When submitting the manuscript the author listing and order should be final. If any addition, deletion or rearrangement of author names in the authorship list does need to be made after submission, this can be done only before acceptance and with the Editor’s approval. To request such a change, the Editor must receive the following from the corresponding author: (1) the reason for the change in author list and (2) written confirmation from all authors, including the affected author, that they agree with the addition, removal or rearrangement.
Only in exceptional circumstances will the Editor consider the addition, deletion or rearrangement of authors after the manuscript has been accepted. While the Editor considers the request, publication of the manuscript will be suspended. If the manuscript has already been published in an issue, any requests approved by the Editor will result in an Erratum.
Abstract and Keywords
-The abstract for research papers should follow the "structured abstract" format:
The abstract should try to be no longer than 250 words.
- For other papers such as Reviews, the abstract should be clear, descriptive, and self-explanatory, and no longer than 250 words.
- Include a list of 4-10 keywords. These keywords should be terms from the MeSH database.
- Note that ALL articles (except book reviews and letters to the editor) must include an abstract.
Materials and Methods
Acknowledgments including sources of support
Conflict of Interest
If there is no conflict of interest to declare, do still include this section and insert "The authors have no conflict of interest to report".
Authors are requested to use the Vancouver citation style. Place citations as numbers in square brackets in the text. All publications cited in the text should be presented in a list of references at the end of the manuscript. List the references in the order in which they appear in the text. Only articles published or accepted for publication should be listed in the reference list. Submitted articles can be listed as (author(s), unpublished data). If an article has a DOI, this should be provided after the page number details. The number is added after the letters 'doi'. Manuscripts will not be considered if they do not conform to the Vancouver citation guidelines.
References must be listed in Vancouver style:
 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.
 Murray PR, Rosenthal KS, Kobayashi GS, Pfaller MA. Medical microbiology. 4th ed. St. Louis: Mosby; 2002.
 Berkow R, Fletcher AJ, editors. The Merck manual of diagnosis and therapy. 16th ed. Rahway (NJ): Merck Research Laboratories; 1992.
 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.
 Canadian Cancer Society [homepage on the Internet]. Toronto: The Society; 2006 [updated 2006 May 12; cited 2006 Oct 17]. Available from: www.cancer.ca/.
 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.
 Fletcher D, Wagstaff CRD. Organisational psychology in elite sport: its emergence, application and future. Psychol Sport Exerc. 2009;10(4):427-34. doi:10.1016/j.psychsport.2009.03.009.
Datasets and Data Articles
All datasets and data articles referenced in your manuscript should be cited in the main reference list of your article (not in a separate box or in the article text).
- Number according to their sequence in the text. The text should include references to all tables.
- Provide each table on a separate page of the manuscript after the references.
- Include a brief and self-explanatory title with any explanations essential to the understanding of the table given in footnotes at the bottom of the table.
- Vertical lines should not be used to separate columns. Leave some extra space between the columns instead.
- Citations in the tables should be numbered and included in the Reference list.
The author is required to have obtained patient permission from all recognizable participants in photographs, videos, or other information that may be published in the Journal or on the journal’s website. A statement that permission was granted by the patient must accompany the figure legend. Do not use study participants' names, initials, or hospital numbers in the legend, figure, or anywhere in the manuscript.
- Number the figures according to their sequence in the text. The text should include references to all figures.
- Figures should preferably be formatted in TIF or EPS format. JPG is also acceptable.
- Figures should be designed with the format of JHD in mind and preferable sized as they will appear when printed. A single column of the journal is 77mm and two columns are 165mm.
- Figures should be at 300 dpi or higher and be cropped to include the figure only (no blank space). CMYK is preferred for color figures.
- On figures where a scale is needed, use bar scales to avoid problems if the figure needs to be reduced.
- Each illustration should have a brief self-explanatory legend that should be typed separately from the figure in the section of the manuscript following the tables.
- Costs for color figures in the print version of the journal are as follows: 1 figure - 650 euro; 2 figures - 900 euro; 3 figures - 1050 euro; 4 figures - 1200 euro; 5 figures - 1350 euro. Cost for each additional color figure will be 150 euro. Color figures are free in the electronic version of the journal. You may opt to send in both black/white figures for print, and color figures for the online PDF (please adjust the figure legend appropriately).
Supplementary material is peer-reviewed material directly relevant to the conclusion of a paper that cannot be included in the printed version for reasons of space or medium (for example, movie clips or sound files). The supplement will be available for download from the publisher's content library site at the time of publication and will be made available in the format in which it was provided.
Supplementary material should be included at the end of the main manuscript at the time of submission. In the case of sound/movie files, these can be submitted separately to the Managing Editor (firstname.lastname@example.org) at the time of submission. Supplementary tables and figures must have a separate numbering system from that used for tables and figures that appear in the print version of the paper (the first figure displayed should be labeled "Supplementary Figure 1", the first table "Supplementary Table 1", and so on). References should also be cited in supplements started with  and listed separately.
Supplementary files are limited to 10MB, except videos which can be up to 25MB.
Supplementary material for Short Communications is limited to 500 words and 1 table or figure.
Reviews should be authoritative and topical and provide comprehensive and balanced coverage of a timely and/or controversial issue. Reviews should be prepared as detailed above for a Research Report, omitting Introduction through Discussion, and include a conclusion. An abstract must also be included. The length of the review article is at the discretion of the author but should be within reasonable limits. The Editor-in-Chief can be consulted regarding reviews of unusual length.
Systematic reviews or meta-analyses that include a methods section are typically considered as a Research report and should be formatted as such.
A short communication is an article of original scholarship of unusual interest of less than 1500 words (not including references). An abstract of 100 words or less should be included with no subdivison of text into sections. References should be formatted as above. A total of two tables and/or figures are allowed.
A hypothesis article should be a balanced and insightful consideration of a topic with novel hypotheses well presented and supported. The article should be prepared as a Research Report but without Methods or Results sections.
Book reviews should be 750 words or less and without sections. Suggestions can be proposed to the Editors-in-Chief.
Letters to the Editor
Authors can submit comments of 1000 words or less concerning prior articles published in JHD to the Editors-in-Chief through the Editorial Office (email@example.com).
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.
- Compliance with guidelines on human experimentation as well as protocol approval by a local Institutional Review Board should be specified.
- Compliance with guidelines of animal experimentation as well as protocol approval by the Institutional Animal Care and Use Committee should be specified.
- Statement of all financial and material support for this research and any potential conflicts should also be clearly identified in the the acknowledgment and Conflict of Interest sections. If there is no Conflict-of-Interest then still add this statement.
Resubmissions should include the manuscript number and a reference that the paper is a revision. The point-by-point response to the previous reviews should be included at the top of the manuscript.
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
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Gold Open Access Publishing (Open Access Option)
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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.
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Quoting from other publications
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11 Jun 2020 - Amsterdam, NL – The advent of therapeutic interventions for spinal muscular atrophy (SMA) has increased the importance of presymptomatic diagnosis and treatment. When to start treatment in children with less severe disease remains controversial. Now, in a report published in the Journal of Neuromuscular Diseases, German researchers argue for an earlier start of treatment to prevent permanent nerve damage, challenging recommendations originally proposed by a group of American experts that suggests a strict follow-up strategy for children expected to have less severe disease....
11 Nov 2019 - Amsterdam, NL – A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more. These findings prove the efficacy of Nusinersen beyond types and age groups, paving the way for adult treatment....
New Analysis Shows Drug Slows Down Respiratory Decline in Patients with Duchenne Muscular Dystrophy in Three Clinical Trials
09 Jul 2019 - Amsterdam, NL – Duchenne muscular dystrophy occurs in boys and is characterized by progressive muscle degeneration and weakness leading to a decline in respiratory function. Strategies to arrest this severe progressive deterioration are needed to extend lives and improve quality of life. Results of three clinical trials using eteplirsen, an exon-skipping antisense oligonucleotide, show promising results, according to a study published in the Journal of Neuromuscular Diseases....
18 Jun 2019 - Amsterdam, NL – Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological disorder affecting peripheral motor and/or sensory nerves in humans. Monogenic disorders like CMT1A, CMT’s most prevalent subtype, are caused by a single gene defect. However, its clinical presentation and severity can vary widely, leading doctors to wonder what factors might be responsible for these differences. A study published in the Journal of Neuromuscular Diseases reveals that while all patients with CMT1A share a single gene defect, at least four clinical characteristics were found to be associated with secondary modifying genes. ...
21 Feb 2019 - Amsterdam, NL – Patients with Duchenne muscular dystrophy (DMD) have few treatment options. Medications currently available or in development either target only a subset of DMD patients with a particular genetic mutation or cause significant side effects. The investigational drug edasalonexent, an oral NF-κB inhibitor, has the potential to slow the progression of the disease for all patients with DMD. The results of a Phase I clinical trial published in the Journal of Neuromuscular Diseases indicate that the drug was well tolerated with no safety issues in boys with DMD, paving the way for further clinical testing. ...
Expand the Role of Patients, the True Experts, in Neuromuscular Disease Research, Concludes International Workshop
06 Feb 2019 - Amsterdam, NL – The old-fashioned paternalistic relationship between doctors and patients has gradually evolved into a more collaborative one in the era of patient-centered medicine. Shared decision-making (SDM), in which doctors and patients jointly decide on treatment or care, has emerged as a gold standard model of healthcare. Yet considerably less attention has been given to obtaining the patient’s perspective on neuromuscular research on such matters as research objectives, study design, or even consent. A position paper in the Journal of Neuromuscular Diseases describes conclusions reached at an international workshop that focused on finding creative solutions to integrate and enhance the patient's point of view in neuromuscular research. ...
17 Dec 2018 - Amsterdam, NL – Heart and lung complications are responsible for much of the morbidity and mortality associated with Duchenne muscular dystrophy (DMD). Although regular monitoring of pulmonary function is recommended in order to detect deterioration, compliance with routine testing, such as hospital-based spirometry, is frequently poor. A new study in the Journal of Neuromuscular Diseases describes the at-home use of a child-compatible, hand-held device that makes monitoring pulmonary function in teens more convenient and provides the data needed for better disease management....
16 Jul 2018 - New findings suggest SMA should be routinely included in newborn screening for early diagnosis, according to research published in the Journal of Neuromuscular Diseases...
Analysis of Global Duchenne Muscular Dystrophy Patients Registry Underscores the Benefits of Corticosteroid Treatment and Heterogeneity of the Disease
01 Feb 2018 - New Analysis in the Journal of Neuromuscular Diseases Highlights How a Comprehensive Database Can Improve Treatment and Drive Research...
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....
06 Jun 2017 - IOS Press Neuroscience & Neurology brochure...
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....
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. ...
01 Apr 2016 - Journals and Books...
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....
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. ...
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....