Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive,
neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor …

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 …

Objective To demonstrate the feasibility of presymptomatic diagnosis of spinal muscular
atrophy (SMA) through newborn screening (NBS). Study design We performed a screening …

Purpose Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading
cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2 …

Spinal muscular atrophy, a leading cause of early infant death, is caused by bi-allelic
mutations of SMN1. Sequence analysis of SMN1 is challenging due to high sequence …

Spinal muscular atrophy (SMA) is a common neuromuscular disorder with autosomal
recessive inheritance, resulting in the degeneration of motor neurons. The incidence of the …

Background Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy
number of SMN2 and NAIP can modify the phenotype of SMA. The aim of this study was to …

Objective Spinal muscular atrophy (SMA) is one of the most common severe hereditary
diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually …

Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide,
is an early-onset motor neuron disease characterized by loss of α-motor neurons and …

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by biallelic variants of
the survival motor neuron 1 (SMN1) gene. In this study, our aim was to make a molecular …