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Volume 6, Issue 2 / 2019 Now Available Online

Review Articles
Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and DegradationOpen Access
Kanagawa, Motoi

Clinical Presentation, Diagnosis and Treatment of TTR AmyloidosisOpen Access
Kapoor, Mahima | Rossor, Alexander M. | Laura, Matilde | Reilly, Mary M.

Research Articles
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyOpen Access
Tao, Feifei | Beecham, Gary W. | Rebelo, Adriana P. | Blanton, Susan H. | Moran, John J. | Lopez-Anido, Camila | Svaren, John | Abreu, Lisa | Rizzo, Devon | Kirk, Callyn A. | Wu, Xingyao | Feely, Shawna | Verhamme, Camiele | Saporta, Mario A.f | Herrmann, David N.g | Day, John W. | et al.

Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular DystrophyOpen Access
Khan, Navid | Eliopoulos, Helen | Han, Lixin | Kinane, T. Bernard | Lowes, Linda P. | Mendell, Jerry R. | Gordish-Dressman, Heather | Henricson, Erik K. | McDonald, Craig M. | on behalf of the Eteplirsen Investigators and the CINRG DNHS Investigators

Implementing a Global Expanded Access Program (EAP) for Infantile-Onset Spinal Muscular Atrophy (Type I): Understanding the Imperative, Impact and ChallengesOpen Access
Yong, Jonathan | Moffett, Megan | Lucas, Sam

Intra-Rater Reliability and Concurrent Validity of Quantified Muscle Testing for Maximal Knee Extensors Strength in Men with Myotonic Dystrophy Type 1
Roussel, Marie-Pier | Hébert, Luc J. | Duchesne, Elise

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Westra, Dineke | Schouten, Meyke I. | Stunnenberg, Bas C. | Kusters, Benno | Saris, Christiaan G.J. | Erasmus, Corrie E. | van Engelen, Baziel G. | Bulk, Saskia | Verschuuren-Bemelmans, Corien C. | Gerkes, E.H.f | de Geus, Christaf | van der Zwaag, P.A.f | Chan, Sophelia | et al.

MuscleViz: Free Open-Source Software for Muscle Weakness Visualization
Wittenbach, Jason D. | Cocanougher, Benjamin T. | Yun, Pomi | Foley, A. Reghan | Bönnemann, Carsten G.

Case Reports
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)
Lin, Hsin-Pin | Ho, Kwo Wei David | Jerath, Nivedita U.

Spinal Stenosis in Familial Transthyretin Amyloidosis
Carr, A.S. | Shah, S. | Choi, D. | Blake, J. | Phadke, R. | Gilbertson, J. | Whelan, C.J. | Wechalekar, A.D. | Gillmore, J.D. | Hawkins, P.N. | Reilly, M.M.

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Volume 6, Supplement 1 / 2019 Meeting Abstracts Online

12th UK Neuromuscular Translational Research Conference

Meeting Abstracts Available – Open Access

The 2019 UK Neuromuscular Translational Research Conference was held in Newcastle-upon-Tyne, UK in early April. Coinciding with the event, the abstracts of the meeting were published as a supplement to JND (JND6:s1). This issue is freely available to read, download and share. The content covers a wide spectrum of neuromuscular diseases from the perspectives of advances in research, diagnosis and treatment. To access the abstracts, click in the banner below or go here.

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Most Read JND Articles, February–April 2019

Listing articles published only in 2018 and 2019 so you can read the most popular recent content

Current Classification and Management of Inflammatory MyopathiesOpen Access (Review Article in Vol.5, Iss.2, 2018)
Schmidt, Jens

Clinical Presentation, Diagnosis and Treatment of TTR AmyloidosisOpen Access (Review Article in Vol.6, Iss.2, 2019)
Kapoor, Mahima | Rossor, Alexander M. | Laura, Matilde | Reilly, Mary M.

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification MethodologyOpen Access (Meeting Report in Vol.6, Iss.1, 2019)
Aartsma-Rus, Annemieke | Morgan, Jennifer | Lonkar, Pallavi | Neubert, Hendrik | Owens, Jane | Binks, Michael | Montolio, Marisol | Phadke, Rahul | Datson, Nicole | Van Deutekom, Judith | et al.

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018Openly Available (Meeting Report in Vol.6, Iss.1, 2019)
Lochmüller, Hanns | Ambrosini, Anna | van Engelen, Baziel | Hansson, Mats | Tibben, Aad | Breukel, Alexandra | Sterrenburg, Ellen | Schrijvers, Guus | Meijer, Ingeborg | et al.

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn ScreeningOpen Access (Research Article in Vol.5, Iss.2, 2018)
Glascock, Jacqueline | Sampson, Jacinda | Haidet-Phillips, Amanda | Connolly, Anne | Darras, Basil | Day, John | Finkel, Richard | Howell, R. Rodney | Klinger, Katherine | Kuntz, Nancy | et al.

New Pathways and Therapeutic Targets in Autoimmune Myasthenia GravisOpen Access (Review Article in Vol.5, Iss.3, 2018)
Behin, Anthony | Le Panse, Rozen

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TREAT-NMD's 6th International Conference 2019

Dec 9–11, 2019 | Leiden, the Netherlands

The TREAT-NMD Alliance will hold its next international conference in Leiden, the Netherlands in December 2019. The aim of this event is to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients. The conference will be an engaging platform for clinical specialists, academics, patients and carers, advocacy organisations, and Industry professionals alike.

Registration Open!

Registration is now open, with early bird discounts available until July 21, 2019. The registration fee includes entry to all official conference sessions, the exhibition, and opening reception, as well as coffee breaks and lunches. It also includes the conference bag, containing the official conference materials. Further details available via the conference website.

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Indexed in: PubMed/MEDLINE Scopus

Submit your Paper

As a member of our research community, we would like to invite you to contribute your own articles to the journal. JND offers contributing authors many benefits, including rigorous peer review and speedy manuscript processing, rapid online publication (pre-press) and an affordable Open Access option (€1250/US$1450). JND is fully compliant with all mandates by major funders, and Open Access articles are automatically uploaded to PubMed Central. More reasons to publish in JND are outlined on the journal's website!

Submit your manuscript online via MsTracker
View detailed Instructions to Authors
Aims and Scope

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