Results 11 to 20 of about 604,348 (394)
Pediatric Neurology Briefs, 1990 Juvenile chronic segmental spinal muscular atrophy of Hirayama is described in two adult identical twins from the Department of Neurology, University of Vermont College of Medicine, Burlington, VT.
J Gordon Millichap
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Case of Muscular Atrophy [PDF]
Proceedings of the Royal Society of Medicine, 1916 F. E. Batten
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Spinal muscular atrophy and ependymoma
Saudi Journal of Medicine and Medical Sciences, 2017 Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness.
Aishah Albakr +3 more
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Neuronal involvement in muscular atrophy [PDF]
Frontiers in Cellular Neuroscience, 2014 The innervation of skeletal myofibers exerts a crucial influence on the maintenance of muscle tone and normal operation. Consequently, denervated myofibers manifest atrophy, which is preceded by an increase in sarcolemma permeability.
Bruno Alejandro Cisterna +4 more
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Neurotherapeutics, 2008 Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular disease frequently manifesting in infancy and childhood. The discovery of the underlying mutation in the survival of motor neurons 1 (SMN1) gene has accelerated preclinical research, leading to treatment targets and transgenic mouse models, but there is still no ...
Petra Kaufmann, Maryam Oskoui
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Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report
Journal of Medical Case Reports, 2022 Background Spinal muscular atrophy is a genetic disorder characterized by degeneration of lower motor neurons, leading to progressive muscular atrophy and even paralysis.
Cempaka Thursina Srie Setyaningrum +4 more
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Risdiplam in Type 1 Spinal Muscular Atrophy.
New England Journal of Medicine, 2021 BACKGROUND Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger
G. Baranello +16 more
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Journal of Medical Case Reports, 2022 Background Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first ...
Cempaka Thursina Srie Setyaningrum +6 more
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The social-economic burden of spinal muscular atrophy in Russia
Фармакоэкономика, 2021 Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. S. Kolbin +7 more
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JAMA Neurology, 2021 Key Points Question What are the long-term safety and efficacy of onasemnogene abeparvovec in infants with spinal muscular atrophy type 1? Findings In this ongoing, long-term follow-up safety study of 13 infants with symptomatic spinal muscular atrophy ...
J. Mendell +11 more
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