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SMN2 deletion in childhoodâonset spinal muscular atrophy
American Journal of Medical Genetics, 2002 Jan-Maarten Cobben, Marjolein Visser
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Bedside evaluation of large motor units in childhood spinal muscular atrophy [PDF]
Neurology, 1979 One hundred patients with motor unit disease were examined to determine the diagnostc reliability of several clinical signs of large motor units. These signs were high-intensity, low-pitched rumbling on skeletal muscle auscultation, voluntary contraction fasciculations, contraction fasciculation trembling, and palpable contraction fasciculations. Among
Barry S. Russman, Edward J. Fredericks
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SMN2-deletion in childhood-onset spinal muscular atrophy
American Journal of Medical Genetics, 2001The human genome has two homologous survival motor neuron genes, SMN1 and SMN2. Although deletions of SMN1 are frequently reported in childhood-onset spinal muscular atrophy (SMA), SMN2 have been found to be intact in patients with the disorder. We report on a 5-year-old boy with childhood-onset SMA who has a homozygous deletion of SMN2. He had wasting,
Inusha Panigrahi +5 more
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Benign spinal muscular atrophy arising in childhood and adolescence
Journal of the Neurological Sciences, 1967Abstract The clinical, electromyographic and histological features are described in 15 patients suffering from juvenile benign spinal muscular atrophy. Two had had sibs who died in early childhood with similar but more severe symptoms and short comments on these 2 cases are included.
D. Gardner-Medwin +2 more
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Use of the ECG in the Diagnosis of Childhood Spinal Muscular Atrophy
Archives of Neurology, 1979The appearance of tremors in patients with childhood, chronic spinal muscular atrophy has been known for years. We were struck by the presence of a "muscle tremor" artifact in the ECGs of all our patients with this diagnosis. This observation has not been noted previously.
Edward J. Fredericks, Barry S. Russman
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Chronic childhood spinal muscular atrophies in Algeria
Journal of the Neurological Sciences, 1990This paper describes a genetic study of the chronic spinal muscular atrophies of late infancy and early childhood in Algeria. There were 50 index patients occurring in 44 kindreds and fourteen secondary cases. Genetic and nosological studies indicated that 52% of the patients constitute a genetically homogeneous subgroup with an age of onset between 3 ...
Charles Geronimi, Meriem Tazir
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Abnormal fatty acid metabolism in childhood spinal muscular atrophy
Annals of Neurology, 1999Our previous experience with abnormal fatty acid metabolism in several children with spinal muscular atrophy (SMA) prompted evaluation of fatty acid metabolism in a larger cohort. Thirty-three infants with severe infantile SMA were shown to have a significantly increased ratio of dodecanoic to tetradecanoic acid in plasma compared with normal infants ...
Orest Hurko +4 more
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Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy
Revue Neurologique, 2012Typical childhood spinal muscular atrophy is a disease that affects the anterior horn of the spinal cord related to SMN1 gene defects. Since no etiological treatment is currently available, its management is necessarily symptomatic and involves multidisciplinary care.
J.-M. Cuisset, B. Estournet
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Current Concepts in Childhood Spinal Muscular Atrophy
Archives of Pediatrics & Adolescent Medicine, 1991There has been a surge of interest in neuromuscular disease in the past 2 years, sparked primarily by major genetic discoveries. While initial attention focused appropriately on Duchenne muscular dystrophy, the momentum has now swung to the spinal muscular atrophies, which, the authors note, are equally frequent and no less important in childhood ...
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Chronic from of childhood spinal muscular atrophy
Journal of the Neurological Sciences, 1979The authors discuss the differences between the two large series of chronic childhood spinal muscular atrophies (SMA)--their own comprising 273 cases, and that of Pearn et al. comprising 141 cases. The main difference concerns the predominance of males in the clinically milder later-onset group in the present series. The data of Pearn et al. (1978a, b)
Irena Hausmanowa-Petrusewicz +2 more
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