Journal ArticleDOI
Electromyography and muscle biopsy in infantile spinal muscular atrophy.
Fritz Buchthal,Poul Zander Olsen +1 more
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This article is published in Brain.The article was published on 1970-01-01. It has received 112 citations till now. The article focuses on the topics: Muscle contracture & Muscle biopsy.read more
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Spinal muscular atrophy
Mitchell R. Lunn,Ching H Wang +1 more
TL;DR: This Seminar provides a comprehensive review that integrates clinical manifestations, molecular pathogenesis, diagnostic strategy, therapeutic development, and evidence from clinical trials for spinal muscular atrophy.
Journal ArticleDOI
The Neurobiology of Childhood Spinal Muscular Atrophy
TL;DR: Investigations into the pathogenesis of SMA are now turning to the cellular biology of NAIP and SMN and to the generation of gene-targeted animal models; available animal models of motor neuron degeneration raise new questions about the multiple pathways of selective motor neuron vulnerability.
Journal ArticleDOI
Spinal muscular atrophy
Stephen J. Kolb,John T. Kissel +1 more
TL;DR: There is an inverse correlation between SMN2 gene copy number and clinical severity, and clinical management focuses on multidisciplinary care.
Journal ArticleDOI
Spinal Muscular Atrophy: Diagnosis and Management in a New Therapeutic Era
TL;DR: An update is provided regarding the most common form of SMA, proximal or 5q‐SMA, and the contemporary approach to diagnosis and treatment and several promising therapeutics are now being tested in early‐phase clinical trials.
Journal ArticleDOI
Dependence of postnatal motoneurones on their targets: review and hypothesis
Margaret B. Lowrie,Gerta Vrbová +1 more
TL;DR: This proposal takes into account the changing functional demands imposed on motoneurones as a result of the gradual maturation of the CNS, and suggests that during development the muscle induces the mot oneurones to become competent to carry out these requirements.
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