Exertional rhabdomyolysis is characterised by muscle breakdown associated with strenuous
exercise or normal exercise under extreme circumstances. Key features are severe muscle …

Background Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease
that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam …

Background Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease
characterized by an onset at 6 months of age or younger, an inability to sit without support …

Background Risdiplam is an oral small molecule approved for the treatment of patients with
spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal …

Background Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of
the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal …

Risdiplam is an oral, survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier
approved for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) …

In this article, we report four new patients, from three kindreds, with pathogenic variants in
RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We …

Background and purpose Spinal muscular atrophy (SMA) is caused by reduced levels of
survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene …

Abstract Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor,
sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory …

Introduction Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the
treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study …