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Neuromuscular Disorders : NMD|August 3, 2014
Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patientsManoj Mannil, Alessandra Solari, Andreas Leha, et al.
Neuromuscular Disorders : NMD|August 5, 2014
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotoniaA Furby, S Vicart, J P Camdessanché, et al.
Neuromuscular Disorders : NMD|December 5, 2013
Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot studyJ Kirschner, D Schorling, D Hauschke, et al.
Neuromuscular Disorders : NMD|January 22, 2013
Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvementLisa D Hobson-Webb, Harrison N Jones, Priya S Kishnani
Neuromuscular Disorders : NMD|March 16, 2013
Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathySarah Feldkirchner, Maggie C Walter, Stefan Müller, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technologyByung Chan Lim, Seungbok Lee, Jong-Yeon Shin, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counselingLuciana Rodrigues Jacy da Silva, Mileny Esbravatti Stephano Colovati, Bruno Coprerski, et al.
Neuromuscular Disorders : NMD|February 12, 2013
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusionsTakatoshi Sato, Yukiko K Hayashi, Yasushi Oya, et al.
Neuromuscular Disorders : NMD|February 12, 2013
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United KingdomL Maggi, M Scoto, S Cirak, et al.
Neuromuscular Disorders : NMD|March 8, 2013
Duchenne muscular dystrophy and epilepsyM Pane, S Messina, C Bruno, et al.
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