Introduction In this study we sought to identify magnetic resonance imaging (MRI) signs of
selective muscle involvement and disease progression in patients with spinal muscular …

Background: 5q Spinal Muscular Atrophy (SMA) is a prototypical lower motor neuron
disorder. However, the characteristic early motor impairment raises the question on the …

Background and purpose Spinal muscular atrophy (SMA) is the most important cause of
motor neuron disease in childhood, and continues to represent the leading genetic cause of …

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

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 …

We present magnetic resonance (MR) ˆndings of siblings aŠected by spinal muscular
atrophy (SMA) Type II. MRI of their thighs showed severe muscle atrophy and fatty inˆltration …

Objective To characterize the natural history of spinal muscular atrophy (SMA) over 24
months using innovative measures such as wearable devices, and to provide evidence for …

Background Spinal muscular atrophy (SMA) is a genetic motor neuron disease related to
deletions in the SMN1 gene. There is mounting evidence that the disease is not restricted to …

Purpose The mechanisms underlying the topography of motor deficits in spinal muscular
atrophy (SMA) remain unknown. We investigated the profile of spinal cord atrophy (SCA) in …

Progress in spinal muscular atrophy research : Current Opinion in Neurology Progress in spinal
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