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Article

Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals.

Annals of neurology - 1 Nov 1996

Nishiyama K, Murayama S, Goto J, Watanabe M, Hashida H, Katayama S, Nomura Y, Nakamura S, Kanazawa I

Abstract excerpt

Machado-Joseph disease (MJD) is an autosomal dominant disorder characterized pathologically by spinocerebellar degeneration. Recently, an expansion of CAG repeat in a gene located at the chromosome 14q32.1 was found to be responsible for the disease. Here, we investigated in situ the expression o...

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PMID: 8957019
DOI: 10.1002/ana.410400514

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8957019-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals.PMID 8957019Read ↗

Machado-Joseph disease gene product identified in lymphocytes and brain.Semantic proximity Read ↗

The genomic structure and expression of MJD, the Machado-Joseph disease geneSemantic proximity Read ↗

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.Semantic proximity Read ↗

Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population.Semantic proximity Read ↗

YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.Semantic proximity Read ↗

The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction.Semantic proximity Read ↗

CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.Semantic proximity Read ↗

A clinical and pathologic study of a large Japanese family with Machado‐ Joseph disease tightly linked to the DNA markers on chromosome 14qSemantic proximity Read ↗

Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease.Semantic proximity Read ↗

The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.Semantic proximity Read ↗

Dopa‐responsive parkinsonism phenotype of Machado‐Joseph disease: Confirmation of 14q CAG expansionSemantic proximity Read ↗

Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene.Semantic proximity Read ↗

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