Axonal transport is the process whereby motor proteins actively navigate microtubules to
deliver diverse cargoes, such as organelles, from one end of the axon to the other, and is …

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

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 …

Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …

Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly
affects children and represents the most common cause of hereditary infant mortality. The …

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 …

Mitochondria play a central role in a plethora of processes related to the maintenance of
cellular homeostasis and genomic integrity. They contribute to preserving the optimal …

Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), and spinal
muscular atrophy (SMA) are the most prevalent neuromuscular disorders (NMDs) in children …

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, predominantly
affects high metabolic tissues including motor neurons, skeletal muscles and the heart …

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by
recessive mutations in the SMN1 gene, globally affecting~ 8–14 newborns per 100,000. The …