Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive degenerative
neuromuscular disorder characterized by loss of spinal motor neurons leading to muscle …

Evidence for nusinersen administration in adult 5q spinal muscular atrophy (5q-SMA)
patients is scarce and based on real-world observational data. The present systematic …

Objective To report results of intrathecal nusinersen in children with later-onset spinal
muscular atrophy (SMA). Methods Analyses included children from a phase 1b/2a study …

Objective To retrospectively investigate safety and efficacy of nusinersen in a large cohort of
adult Italian patients with spinal muscular atrophy (SMA). Methods Inclusion criteria were:(1) …

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function
mutations in the survival motor neuron 1 gene, which results in a broad range of disease …

Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a
biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy …

Introduction Ambulatory individuals with spinal muscular atrophy (SMA) experience muscle
weakness, gait impairments, and fatigue that affect their walking ability. Improvements have …

Background Nusinersen recently became available as the first treatment for Spinal Muscular
Atrophy (SMA) and data on its effectiveness and safety in adult SMA patients are still scarce …

Introduction Clinical trials data concerning use of nusinersen in older spinal muscular
atrophy (SMA) patients is lacking. We describe our center's experience in using intrathecal …

Abstract This phase 2, double-blind, placebo-controlled, hypothesis-generating study
evaluated the effects of oral reldesemtiv, a fast skeletal muscle troponin activator, in patients …