Neuromuscular Disorders

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study

Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey

Disruption of sleep-wake continuum in myotonic dystrophy type 1: Beyond conventional sleep staging

Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years

A review of the histopathological findings in myasthenia gravis: Clues to the pathogenesis of treatment-resistance in extraocular muscles

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G > A, p.Trp25X mutation

A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4

Sensitivity and clinical utility of the anti-cytosolic 5 '-nucleotidase 1A (cN1A) antibody test in sporadic inclusion body myositis: Report of 40 patients from a single neuromuscular center