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

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

Objective: Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor
neuron disease caused by loss of the SMN1 gene. Based on randomized clinical trials in …

Objective To assess longitudinal patterns of muscle strength, motor function, and maximal
compound muscle action potential amplitudes (CMAPMAX) in older patients with spinal …

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 …

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 …

Spinal muscular atrophy (SMA) is a lower motor neuron disease due to biallelic mutations in
the SMN1 gene on chromosome 5. It is characterized by progressive muscle weakness of …

Only few studies have reported muscle involvement in spinal muscular atrophy using muscle
MRI but this has not been systematically investigated in a large cohort of both pediatric and …

Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor
neuron 1) gene on chromosome 5q13. 2, which leads to a progressive degeneration of …

Spinal muscular atrophy (SMA) is a genetic disorder characterized by the loss of spinal
motor neurons leading to muscle weakness and respiratory failure. Mitochondrial …