Results 261 to 270 of about 77,164 (290)
Some of the next articles are maybe not open access.
Spinal Muscular Atrophy Diagnostics
Journal of Child Neurology, 2007Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene ( SMN), which exists in 2 nearly identical copies ( SMN1 and SMN2). Exon 7 of SMN1 is homozygously absent in about 95% of spinal muscular atrophy patients, whereas the loss of SMN2 does not cause spinal muscular atrophy.
openaire +2 more sources
2017
Spinal muscular atrophies (SMA) result in progressive degeneration of the anterior horn cells. Most patients present in infancy and childhood but later presentations are known. The condition is inexorably progressive and reduces quality and span of life. Survival motor neuron gene abnormalities are most common, but other genetic abnormalities have been
Satish V. Khadilkar +2 more
openaire +1 more source
Spinal muscular atrophies (SMA) result in progressive degeneration of the anterior horn cells. Most patients present in infancy and childhood but later presentations are known. The condition is inexorably progressive and reduces quality and span of life. Survival motor neuron gene abnormalities are most common, but other genetic abnormalities have been
Satish V. Khadilkar +2 more
openaire +1 more source
Risdiplam in Type 1 Spinal Muscular Atrophy
New England Journal of Medicine, 2021Giovanni Baranello +2 more
exaly
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
New England Journal of Medicine, 2021Riccardo Masson +2 more
exaly