Abstract 5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by
mutations in the SMN1 gene, resulting in a loss of functional SMN protein and consecutive …

Background: 5q spinal muscular atrophy (SMA) is an autosomal recessive lower
motoneuron disease caused by deletion or mutations in the survival motor neuron 1 gene …

Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor
neuron loss. In this review we provide an update regarding the most common form of SMA …

Background and Objectives Spinal muscular atrophy (SMA) is mainly caused by
homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients' series are lacking, and …

Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle
weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord …

Since the introduction of disease modifying treatments there is an unmet need to identify
biomarkers of spinal muscular atrophy (SMA) natural history. We performed a systematic …

Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by
muscular atrophy, weakness, and hypotonia due to suspected lower motor neuron …

Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited
progressive neuromuscular disorder with a narrow therapeutic window for optimal treatment …

Simple Summary Globally, 5q spinal muscular atrophy (SMA) is one of the most common
pediatric autosomal recessive neuromuscular diseases, with a prevalence of~ 1–2 per …

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 …