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

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

Background Spinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor
neuron disease with an onset during infancy that results in failure to achieve 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 …

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) 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) describes a group of disorders associated with spinal motor
neuron loss. In this review we provide an update regarding the most common form of SMA …

Western blotting has been a key technique for determining the relative expression of
proteins within complex biological samples since the first publications in 1979. Recent …

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