Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive
lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been …

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 …

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 …

Objective Recent advances in understanding Spinal Muscular Atrophy (SMA)
etiopathogenesis prompted development of potent intervention strategies and raised need …

Spinal muscular atrophy (SMA) is a neuromuscular disease characterised primarily by loss
of lower motor neurons from the ventral grey horn of the spinal cord and proximal muscle …

The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced
expression of the survival motor neuron (SMN) gene. Previous studies using in vitro model …

Background Natural history of spinal muscular atrophy (SMA) in adult age has not been fully
elucidated yet, including factors predicting disease progression and response to treatments …

Objective The aim of this study was the comprehensive characterisation of longitudinal
clinical, electrophysiological and neuroimaging measures in type III and IV adult spinal …

The aim of this study was to document upper leg involvement in spinal muscular atrophy
(SMA) with quantitative MRI (qMRI) in a cross‐sectional cohort of patients of varying type …

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 …