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Neuromuscular Disorders : NMD|August 1, 2017
Spinal muscular atrophy: A changing phenotype beyond the clinical trialsEduardo F Tizzano, Richard S Finkel
Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
Neuromuscular Disorders : NMD|November 6, 2017
Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophyB M van der Sluijs, S Lassche, G J Knuiman, et al.
Neuromuscular Disorders : NMD|November 13, 2017
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypesElizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, et al.
Neuromuscular Disorders : NMD|October 22, 2017
Molecular characterization of congenital myasthenic syndromes in SpainD Natera-de Benito, A Töpf, J J Vilchez, et al.
Neuromuscular Disorders : NMD|August 30, 2017
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvementDaisuke Kondo, Koji Shinoda, Ken-Ichiro Yamashita, et al.
Neuromuscular Disorders : NMD|September 2, 2014
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophiesLeroy Ten Dam, Anneke J van der Kooi, Fleur Rövekamp, et al.
Neuromuscular Disorders : NMD|May 24, 2016
TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvementGuja Astrea, Ilaria Pezzini, Ester Picillo, et al.
Neuromuscular Disorders : NMD|May 31, 2016
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophyCraig M McDonald, Thomas Meier, Thomas Voit, et al.
Neuromuscular Disorders : NMD|August 17, 2014
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literaturePedro M Rodríguez Cruz, Caroline Sewry, David Beeson, et al.
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