Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

Defective genes account for∼ 80% of the total of more than 7,000 diseases known to date.
Gene therapy brings the promise of a one-time treatment option that will fix the errors in …

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 …

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 …

Background Understanding how prevalence, incidence, and mortality of motor neuron
diseases change over time and by location is crucial for understanding the causes of these …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …

Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease
characterized by the degeneration of alpha motor neurons in the spinal cord, leading to …

Spinal muscular atrophy is an autosomal recessive neurodegenerative disease
characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles …

Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor
neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is …

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder
caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in …