Mitochondria play important roles in maintaining cellular homeostasis and skeletal muscle
health, and damage to mitochondria can lead to a series of pathophysiological changes …

The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a
highly challenging endeavor, but also led to one of the most successful stories in …

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

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 …

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 …

Myostatin is a negative regulator of skeletal muscle growth secreted by skeletal myocytes. In
the past years, myostatin inhibition sparked interest among the scientific community for its …

Abstract Spinal Muscular Atrophy (SMA) is a genetic disease that causes weakness and
wasting in the voluntary muscles of infants and children. SMA has been the leading inherited …

Rare diseases collectively exact a high toll on society due to their sheer number and overall
prevalence. Their heterogeneity, diversity, and nature pose daunting clinical challenges for …

Reduced survival motor neuron (SMN) protein triggers the motor neuron disease, spinal
muscular atrophy (SMA). Restoring SMN prevents disease, but it is not known how …

Background Nusinersen recently became available as the first treatment for Spinal Muscular
Atrophy (SMA) and data on its effectiveness and safety in adult SMA patients are still scarce …