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Article

The DNA diagnosis for bulbospinal muscular atrophy.

Clinical neurology and neurosurgery - 1 Feb 1994

Ohno M, Yamada T, Kobayashi T, Goto I

Abstract excerpt

We showed the analysis of the androgen receptor gene in 6 patients with bulbospinal muscular atrophy (BSMA). Four of them had typical manifestations of Kennedy's disease, while the other 2 patients did not show androgen insensitive signs such as gynecomastia or testicular atrophy. Enlarged CAG repeats were found in 4 patients with typical Kennedy's disease and 1 patient without androgen insensitive signs. This...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8187377
DOI: 10.1016/0303-8467(94)90024-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The DNA diagnosis for bulbospinal muscular atrophy.PMID 8187377Read ↗

[DNA diagnosis of X-linked recessive bulbospinal muscular atrophy by androgen receptor gene mutations].Semantic proximity Read ↗

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.Semantic proximity Read ↗

Molecular analysis of the androgen receptor gene in Kennedy's disease. Report of two families and review of the literature.Semantic proximity Read ↗

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families.Semantic proximity Read ↗

Reflections on the diseases linked to mutations of the androgen receptor.Semantic proximity Read ↗

[The DNA diagnosis of a familial case of Kennedy's spinal and bulbar amyotrophy].Semantic proximity Read ↗

Spinal and bulbar muscular atrophy: a motoneuron or muscle disease?Semantic proximity Read ↗

Spinal and bulbar muscular atrophy: androgen receptor dysfunction caused by a trinucleotide repeat expansion.Semantic proximity Read ↗

[DNA-diagnosis of bulbospinal muscular atrophy (Kennedy's disease)].Semantic proximity Read ↗

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.Semantic proximity Read ↗

[X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects].Semantic proximity Read ↗

A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length.Semantic proximity Read ↗

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