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Unilateral Scapulohumeral Muscular Atrophy
European Neurology, 1983A peculiar form of chronic spinal muscular atrophy is described, 5 unrelated young males developed muscle wasting of the left shoulder and upper arm region, mainly in the distribution of myotomes C5 and C6. This muscle atrophy remained confined to the primary site for 13-18 years, being followed in 4 cases by a mild muscle atrophy of the right upper ...
H E, Kaeser, R, Feinstein, W, Tackmann
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Journal of Inherited Metabolic Disease, 1999
AbstractSpinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene ...
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AbstractSpinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene ...
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Heredofamilial Juvenile muscular Atrophy Simulating muscular Dystrophy
Archives of Neurology And Psychiatry, 1956Since 1945 we have personally examined 12 patients with a juvenile type of hereditary muscular atrophy, all of whom had earlier been considered to have muscular dystrophy of the limb-girdle type. The diagnosis was verified by electromyography (Kugelberg, 12 1949) and muscle biopsy. This type of hereditary juvenile spinal muscular atrophy constitutes a
E, KUGELBERG, L, WELANDER
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Neurogenic FSH muscular atrophy
Muscle & Nerve, 1995Neurogenic facioscapulohumeral (FSH) muscular atrophy is a distinct entity from FSH muscular dystrophy. Is the gene(s) responsible for the disease identical with or different from that for FSH dystrophy?
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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
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Risdiplam in Type 1 Spinal Muscular Atrophy
New England Journal of Medicine, 2021Giovanni Baranello +2 more
exaly