Results 11 to 20 of about 1,670 (170)
Nature Communications, 2020 Spinal muscular atrophy (SMA) is associated with minor splicing-related defects. Here the authors develop Drosophila models with minor spliceosomal-snRNA deletions, and demonstrate SMA-like phenotypes.
Liang Li +9 more
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Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1 [PDF]
Kosin Medical Journal, 2019 Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis ...
Min-Jung Cho
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Frontiers in Molecular Neuroscience, 2018 Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder that occurs in early childhood. The disease is caused by the deletion/mutation of the survival motor neuron 1 (SMN1) gene resulting in progressive skeletal muscle atrophy and paralysis,
Roberta Schellino +6 more
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Anesthetic management of a child with spinal muscular atrophy
Amrita Journal of Medicine, 2023 Spinal muscular atrophy (SMA) is a rare autosomal disorder associated with degeneration of motor neurons. Bulbar dysfunction predisposes to aspiration. We present the anesthetic management of a child with SMA managed with general anesthesia and abdominal
Dimple E Thomas +3 more
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SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy
PLoS ONE, 2013 Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease activity and predicting progression, (ii) designing trials that allow rapid assessment of candidate therapies, and (iii) understanding molecular causes and consequences of the disease.
Dione T Kobayashi +24 more
openaire +7 more sources
Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment
Annals of Clinical and Translational Neurology, 2021 Objective To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q ...
Maren Freigang +20 more
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Frontiers in Cellular and Infection Microbiology, 2023 Spinal muscular atrophy (SMA) is a neurodegenerative disease that results in progressive and symmetric muscle weakness and atrophy of the proximal limbs and trunk due to degeneration of spinal alpha-motor neurons.
Bingqing Cao, Ling Cao
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Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA) [PDF]
PharmacoEconomics, 2021 Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease that affects individuals with a broad age range. SMA is typically characterised by symmetrical muscle weakness but is also associated with cardiac defects, life-limiting impairments in respiratory function and bulbar function defects that affect swallowing and speech.
Noman Paracha +3 more
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Research progress of spinal muscular atrophy treatment in children
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Spinal muscular atrophy (SMA) is the most common fatal neurogenetic disease in infant period. Clinical manifestations of SMA include symmetrical and progressive weakness and atrophy of proximal limbs.
Miao ZHAO +3 more
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Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA. [PDF]
PLoS ONE, 2016 PURPOSE:The mechanisms underlying the topography of motor deficits in spinal muscular atrophy (SMA) remain unknown. We investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness ...
Mohamed-Mounir El Mendili +12 more
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