Hereditary canine spinal muscular atrophy: a canine model of human motor neuron disease.
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Animals↗
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Results for “Muscular Atrophy, Spinal”
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Spinal muscular atrophy (a report of 44 cases).
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Adolescent↗
[Autopsy report of 2 cases of progressive spinal muscular atrophy].
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Adult↗
[One autopsy case of bulbar-spinal muscular atrophy in adult males (author's transl)].
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Humans↗
[Chronic spinal muscular atrophy with predominant affection of distal muscles and muscular hypertrophy (author's transl)].
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Chronic Disease↗
[Associated signs and laboratory findings in bulbar spinal muscular atrophy in adult (author's transl)].
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Adult↗
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.
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Exons↗
Pathological case of the month. Type 3 spinal muscular atrophy (Kugelberg-Welander disease).
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Child↗
Spinal muscular atrophy, East and West.
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Adolescent↗
Molecular basis of spinal muscular atrophy in Chinese.
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China↗
[Anesthesia in a patient with spinal muscular atrophy of the Kugelberg-Welander type].
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Adult↗
DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies.
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Base Sequence↗
Molecular genetics of autosomal recessive spinal muscular atrophy.
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Cyclic AMP Response Element-Binding Protein↗
[Survival motor neuron and neuronal apoptosis inhibitory protein gene deletion analysis of childhood spinal muscular atrophy].
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Base Sequence↗
Spinal muscular atrophy: resources available on the World Wide Web.
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Computer Communication Networks↗
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
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Adolescent↗
DNA diagnosis for clinical and prenatal diagnosis of spinal muscular atrophy in Thai patients.
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DNA Mutational Analysis↗
[Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset].
GM2 gangliosidosis are caused by a beta-hexosaminidase A enzyme deficiency. Mutations in the gene leaving residual enzyme activity give rise to juvenile and adult forms of the disease which have a great clinical heterogeneity. We report three cases which have been considered for some time as Kugelberg-Welander disease. beta-hexosaminidase A was determined with the sulfated synthetic substrate, 4-méthylumbelliferyl-N-acetylglucosamine 6-sulfate (4-MUGS), which allowed the diagnosis. Two of these cases from one family had normal values of hexosaminidase A in serum as found in the B1 variant. Compound mutations were detected. The B1 variants had a classical B1 mutation (G533-->A) and a new mutation located on exon 11. The patient of the second family had the classical mutation of adult GM2 gangliosidosis (Gly269-->Ser) and a new mutation on exon 1, at the initiation codon.
Adult↗