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 …

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases
with progressive weakness of skeletal and respiratory muscles, leading to significant …

Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular
atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial …

This is the second half of a two-part document updating the standard of care
recommendations for spinal muscular atrophy published in 2007. This part includes updated …

Splice-switching oligonucleotides (SSOs) are short, synthetic, antisense, modified nucleic
acids that base-pair with a pre-mRNA and disrupt the normal splicing repertoire of the …

Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity
ranging from progressive infantile paralysis and premature death (type I) to limited motor …

Spinal muscular atrophy (SMA) is a recessive disorder caused by a mutation in the survival
motor neuron 1 gene (SMN 1); it affects 1 in 11 000 newborn infants. The most severe and …

Background and purpose Natural history studies in spinal muscular atrophy (SMA) have
primarily focused on infants and children. Natural history studies encompassing all age …

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function
mutations in the survival motor neuron 1 gene, which results in a broad range of disease …

Introduction This is the first description of safety data for intravenous onasemnogene
abeparvovec, the only approved systemically administered gene-replacement therapy for …