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Volume 5, Number 1 / 2018 Now Available Online

Review Articles
Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular DisordersOpen Access
Fayssoil, Abdallah | Behin, Anthony | Ogna, Adam | Mompoint, Dominique | Amthor, Helge | Clair, Bernard | Laforet, Pascal | Mansart, Arnaud | Prigent, Helene | Orlikowski, David | Stojkovic, Tanya | Vinit, Stéphane | Carlier, Robert | Eymard, Bruno | Lofaso, Frederic | Annane, Djillali

Anti-HMGCR MyopathyOpen Access
Mohassel, Payam | Mammen, Andrew L.

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair BalletOpen Access
Barthélémy, Florian | Defour, Aurélia | Lévy, Nicolas | Krahn, Martin | Bartoli, Marc

Research Articles
The Utility of the Laboratory Work Up at the Time of Diagnosis of Amyotrophic Lateral Sclerosis
Mirian, Ario | Korngut, Lawrence

Reliability of the Apathy Evaluation Scale in Myotonic Dystrophy Type 1
Gallais, Benjamin | Gagnon, Cynthia | Côté, Isabelle | Forgues, Geneviève | Laberge, Luc

Long-Term Pulmonary Function in Duchenne Muscular Dystrophy: Comparison of Eteplirsen-Treated Patients to Natural HistoryOpen Access
Kinane, T. Bernard | Mayer, Oscar H. | Duda, Petra W. | Lowes, Linda P. | Moody, Stephanie L. | Mendell, Jerry R.

Aberrant Caspase Activation in Laminin-α2-Deficient Human Myogenic Cells is Mediated by p53 and Sirtuin ActivityOpen Access
Yoon, Soonsang | Beermann, Mary Lou | Yu, Bryant | Shao, Di | Bachschmid, Markus | Miller, Jeffrey Boone

NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project
Lawlor, Michael W. | Iannaccone, Susan T. | Mathews, Katherine | Muntoni, Francesco | Alai-Hansen, Sherita | Odenkirchen, Joanne C. | S. Feldman, Robin | On behalf of the CMD Working Group

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent
Bhattacharya, Sudha | Khadilkar, Satish V. | Nalini, Atchayaram | Ganapathy, Aparna | Mannan, Ashraf U. | Majumder, Partha P. | Bhattacharya, Alok

Other Content
What is the Fracture Risk in Patients at a Multidisciplinary Neuromuscular Clinic?
Francis, George J. | Cook, Amy E. | Morrish, Donald W. | Chan, K. Ming | Acharya, Hernish J.

Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q)
Jerath, Nivedita U. | Shy, Michael E.

Expanded Diagnostic and Therapeutic Options for Cardiac Disease in Duchenne Muscular DystrophyOpenly Available
Claudia, Stöllberger | Finsterer, Josef

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TREAT-NMD Meeting Report

Also published in this issue is an open access meeting report of a TREAT-NMD workshop that took place in the Netherlands, following up TREAT-NMD activities dedicated to improving quality in the preclinical phase of drug development for neuromuscular diseases. In particular, this workshop adressed necessary future steps regarding common standard experimental protocols and the issue of improving the translatability of preclinical efficacy studies.

Since the workshop took place, the main deliverables that have been achieved to date are: (1) The establishment of a curated database of natural history for mdx, which allows for meta-analysis of main mouse outcomes; and (2) Guidelines and rules are now in place for the creation and submission of future SOPs. Finally, (3) a subsequent, larger ENMC Workshop was organized and took place in February 2017 in order to discuss preclinical study quality, with representatives from academic and clinical research, industry, patients, funding agencies, journals and regulatory agencies (report to follow).The report in JND 5:1 is open access and can be viewed here.

Press Release

TREAT-NMD's Duchenne muscular dystrophy database was utilized in a recent study published in JHD, which was the focus of press release that was issued earlier this month. The associated article is listed in the second position of the most read JND articles in January (see below).

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Most Read JND Articles in January 2018

Long-Term Pulmonary Function in Duchenne Muscular Dystrophy: Comparison of Eteplirsen-Treated Patients to Natural HistoryOpen Access (Research Article in Vol.5, Iss.1, 2018; was available in preprint)
Kinane, T. Bernard | Mayer, Oscar H. | Duda, Petra W. | Lowes, Linda P. | Moody, Stephanie L. | Mendell, Jerry R.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global DatabaseOpen Access (Research Article in Vol.4, Iss.4, 2017; featured in a press release issued on Feb 1, 2018)
Koeks, Zaïda, et al.

Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular MechanismOpen Access (Research Article in Vol.2, Iss.s2, 2015)
Meola, Giovanni | Cardani, Rosanna

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular DisordersOpen Access (Review Article in Vol.5, Iss.1, 2018; was available in preprint)
Fayssoil, Abdallah | Behin, Anthony | Ogna, Adam | Mompoint, Dominique | Amthor, Helge | Clair, Bernard | Laforet, Pascal | Mansart, Arnaud | Prigent, Helene | Orlikowski, David | Stojkovic, Tanya | Vinit, Stéphane | Carlier, Robert | Eymard, Bruno | Lofaso, Frederic | Annane, Djillali

Genome Editing Gene Therapy for Duchenne Muscular DystrophyOpen Access (Review Article in Vol.2, Iss.4, 2015)
Hotta, Akitsu

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Indexed in: PubMed/MEDLINE Scopus

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