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

It has been 15 years since the birth of human induced pluripotent stem cell (iPSC)
technology in 2007, and the scope of its application has been expanding. In addition to the …

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …

Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of
individuals with genetic diseases, but the systematic identification of such individuals …

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …

Background Spinal muscular atrophy (SMA) is the most common neurodegenerative
disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis …

Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the
most severe cases and when left untreated, leads to death within the first two years of life …

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 …

Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …

Background Major efforts have been made in the last decade to develop and improve
therapies for proximal spinal muscular atrophy (SMA). The introduction of …