The muscular dystrophies are rare orphan diseases, characterized by progressive muscle
weakness: the most common and well known is Duchenne muscular dystrophy which affects …

The availability of disease modifying therapies for spinal muscular atrophy (SMA) has
created an urgent need to identify clinically meaningful biomarkers. Biomarkers present a …

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function
mutations in the survival motor neuron 1 gene, which results in a broad range of disease …

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 …

There is an unmet need to identify biomarkers sensitive to change in rare, slowly
progressive neuromuscular diseases. Quantitative magnetic resonance imaging (MRI) of …

The purpose of this study is to evaluate and compare 2-point (2pt), 3-point (3pt), and 6-point
(6pt) Dixon magnetic resonance imaging (MRI) sequences with flexible echo times (TE) to …

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

Proximal spinal muscular atrophy (SMA) is a rare progressive, life limiting genetic motor
neuron disease. While promising causal therapies are available, meaningful prognostic …

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 …

Abstract 5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by
mutations in the SMN1 gene, resulting in a loss of functional SMN protein and consecutive …