Spinal muscular atrophy (SMA) is a neuromuscular disease caused by abnormally low
cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were …

Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor
neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is …

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 an autosomal recessive disorder that is the leading
genetic cause of infantile death. SMA is characterized by loss of motor neurons in the ventral …

Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant
mortality. This neuromuscular disorder is caused by the loss or mutation of the telomeric …

Spinal muscular atrophies (SMAs) are a group of inherited disorders characterized by motor
neuron loss in the spinal cord and lower brainstem, muscle weakness, and atrophy. The …

The autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results
from low levels of survival motor neuron (SMN) protein; however, it is unclear how reduced …

Genetic alterations impacting ubiquitously expressed proteins involved in RNA metabolism
often result in neurodegenerative conditions, with increasing evidence suggesting that …

The loss of motor neurons (MNs) is a hallmark of the neuromuscular disease spinal
muscular atrophy (SMA); however, it is unclear whether this phenotype autonomously …

Survival of motor neuron (SMN) deficiency causes spinal muscular atrophy (SMA), but the
pathogenesis mechanisms remain elusive. Restoring SMN in motor neurons only partially …