Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons
associated with muscle paralysis and atrophy. Childhood SMA is a frequent recessive …

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival
motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however …

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and
a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of …

Several mice models have been created for spinal muscular atrophy (SMA); however, there
is still no standard preclinical testing system for the disease. We previously generated type III …

Spinal muscular atrophy (SMA) is genetic and progressive, caused by large bi-allelic
deletions in the SMN1 gene, or the association of a large deletion and a null variant …

Aim To summarize the current knowledge on brain involvement in spinal muscular atrophy
(SMA) type 1, focusing on brain pathology, cognition, and speech/language development …

Background The advent of new therapies has increased the need to achieve early diagnosis
in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of …

Introduction: With clinical trials underway, our objective was to construct a composite score
of global function that could discriminate among people with spinal muscular atrophy (SMA) …

Systemically low levels of survival motor neuron-1 (SMN1) protein cause spinal muscular
atrophy (SMA). α-Motor neurons of the spinal cord are considered particularly vulnerable in …

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 …