Objective: To characterize the natural history of spinal muscular atrophy type 2 and type 3
(SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in …

Background Mouse models of mild spinal muscular atrophy (SMA) have been extremely
challenging to generate. This paucity of model systems has limited our understanding of …

Progress in spinal muscular atrophy research : Current Opinion in Neurology Progress in spinal
muscular atrophy research : Current Opinion in Neurology Log in or Register Subscribe to …

Objectives Quantitative MRI (qMRI) of muscles is a promising tool to measure disease
progression or to assess therapeutic effects in neuromuscular diseases. Longitudinal …

Objective To characterize and quantify peripheral nerve lesions and muscle degeneration in
clinically, genetically, and electrophysiologically well-classified, nonpediatric patients with …

Background and purpose Natural history studies in spinal muscular atrophy (SMA) have
primarily focused on infants and children. Natural history studies encompassing all age …

Objective To assess motor unit (MU) changes in patients with spinal muscular atrophy (SMA)
using compound muscle action potential (CMAP) scans. Methods We performed CMAP scan …

Spinal muscular atrophy is a monogenic, progressive motor neuron disorder caused by
deletion or mutation in the SMN1 gene. A broad range of phenotypic severity, from very …

OBJECTIVE: To examine the natural history of spinal muscular atrophy (SMA) to gain further
insight into the clinical course and pathogenesis. STUDY DESIGN: Survival pattern, age of …

Objective: To characterize the short-term course of spinal muscular atrophy (SMA) in a
genetically and clinically well-defined cohort of patients with SMA. Design: A comprehensive …