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Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia
Evaluation of Serial Casting for Boys with Duchenne Muscular Dystrophy: A Case Report
False Negative Carrier Screening in Spinal Muscular Atrophy
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy
Ataluren treatment of patients with nonsense mutation dystrophinopathy
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