Neuromuscular Disorders

文章名称引用次数

• Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study45
• Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases38
• Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids14
• Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands12
• MYO-MRI diagnostic protocols in genetic myopathies10
• Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study8
• European regulators' views on a wearable-derived performance measurement of ambulation for Duchenne muscular dystrophy regulatory trials7
• The nature of respiratory muscle weakness in patients with late-onset Pompe disease7
• Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene6
• Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up6