The introduction of genetics revolutionized the field of neurodegenerative and
neuromuscular diseases and has provided considerable insight into the underlying …

Spinal muscular atrophy (SMA) is a neurodegenerative disease associated with severe
muscle atrophy and weakness in the limbs and trunk. We report interim efficacy and safety …

Recent unprecedented advances in treatment for spinal muscular atrophy (SMA) enabled
patients to access the first approved disease modifying therapy for the condition. There are …

Abstract Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen
in children (two SMN2 copies, n= 15; three SMN2 copies, n= 10) who initiated treatment in …

Introduction Infants with spinal muscular atrophy (SMA) type 1 typically face a decline in
motor function and a severely shortened life expectancy. Clinical trials for SMA type 1 …

Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease,
characterized by decreased amounts of survival motor neuron (SMN) protein, due to an …

With the increase in the expectancy of the life span of humans, neurodegenerative diseases
(NDs) have imposed a considerable burden on the family, society, and nation. In defiance of …

Objective Evaluation of ophthalmologic safety with focus on retinal safety in patients with
spinal muscular atrophy (SMA) treated with risdiplam (EVRYSDI®), a survival of motor …

Spinal muscular atrophy (SMA) is a debilitating disorder characterized by degeneration of
large motor neurons. It is a heterogeneous group of disorders caused by a homozygous …

Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular
disorders characterized by lower motor neuron dysfunction, slowly progressive length …