Spinal muscular atrophy (SMA) is a congenital neuromuscular disorder characterized by
motor neuron loss, resulting in progressive weakness. SMA is notable in the health care …

Spinal muscular atrophy (SMA) is one of the leading causes of infant mortality. SMA is
mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or …

Spinal muscular atrophy (SMA) is caused by mutations in SMN1. SMN2 is a paralogous
gene with a C• G-to-T• A transition in exon 7, which causes this exon to be skipped in most …

Spinal muscular atrophy is typically characterized as a motor neuron disease. Untreated
patients with the most severe form, spinal muscular atrophy type 1, die early with infantile …

Antisense oligonucleotides (ASOs) have emerged as one of the most innovative new
genetic drug modalities. However, their high molecular weight limits their bioavailability for …

Defects in DNA repair pathways are a major cause of DNA damage accumulation leading to
genomic instability and neurodegeneration. Efficient DNA damage repair is critical to …

The approved gene therapies for spinal muscular atrophy (SMA), caused by loss of survival
motor neuron 1 (SMN1), greatly ameliorate SMA natural history but are not curative. These …

Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by
mutations in the SMN1 gene. Despite the development of various therapies, outcomes can …

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to
paralysis, muscle atrophy, and death. Significant advances in antisense oligonucleotide …

Spinal muscular atrophy (SMA), the main genetic cause of infant death, is a
neurodegenerative disease characterized by the selective loss of motor neurons in the …