Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide that is
characterized by loss of spinal motor neurons leading to muscle weakness and atrophy …

After 26 years of discovery of the determinant survival motor neuron 1 and the modifier
survival motor neuron 2 genes (SMN1 and SMN2, respectively), three SMN-dependent …

Background Biomarkers can be used to assess the severity of spinal muscular atrophy (5q
SMA; SMA). Despite their potential, the relationship between biomarkers and clinical …

Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic
pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene. Early …

Spinal muscular atrophy (SMA) is among the most common autosomal recessive disorders
with different incidence rates in different ethnic groups. In the current study, we have …

Spinal muscular atrophy (SMA) is a genetic disorder primarily caused by mutations in the
SMN1 gene, leading to motor neuron degeneration and muscle atrophy, affecting multiple …

Spinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-
of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by the degeneration of motor neurons and progressive muscle atrophy …

Background: Insufficient amounts of survival motor neuron protein is leading to one of the
most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current …

Objective To review the clinical characteristics and effect of treatment in patients with spinal
muscular atrophy (SMA) and three copies of the SMN2 gene. Methods We conducted a …