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

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis – Open 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 Study – Open 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 Dystrophy – Open 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 Challenges – Open 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.

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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