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 one of the most common autosomal recessive diseases
with progressive weakness of skeletal and respiratory muscles, leading to significant …

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss or mutations in
SMN1. According to age of onset, achieved motor abilities, and life span, SMA patients are …

Abstract Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in
SMN1 and results in the loss of motor neurons and progressive muscle weakness. The …

The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a
highly challenging endeavor, but also led to one of the most successful stories in …

Recent advances in the treatment of spinal muscular atrophy (SMA) have dramatically
altered prognosis. Rather than a rapidly lethal disease, SMA type 1, the most severe form …

Twenty-five years ago, the underlying genetic cause for one of the most common and
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …

Objective: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease
in childhood. The study was conducted to assess the impact of early detection of SMA by …

Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide,
is an early-onset, autosomal recessive neurodegenerative disease characterized by the loss …

Homozygous SMN1 loss causes spinal muscular atrophy (SMA), the most common lethal
genetic childhood motor neuron disease. SMN1 encodes SMN, a ubiquitous housekeeping …