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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.
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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
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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: A Review in Spinal Muscular Atrophy
CNS Drugs, 2022J. Paik
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Oncologic emergencies and urgencies: A comprehensive review
Ca-A Cancer Journal for Clinicians, 2022Bonnie Gould Rothberg +2 more
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Regulation of axonal regeneration after mammalian spinal cord injury
Nature Reviews Molecular Cell Biology, 2023Binhai Zheng, Mark H Tuszynski
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Spinal muscular atrophy — insights and challenges in the treatment era
Nature Reviews Neurology, 2020E. Mercuri +4 more
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