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Article

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 1996

Sobue G, Doyu M, Nakao N, Shimada N, Mitsuma T, Maruyama H, Kawakami S, Nakamura S

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Identifiers

PMID: 8609529
DOI: 10.1136/jnnp.60.3.354-a
PMCID: PMC1073875

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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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Homozygosity for Machado-Joseph disease gene enhances phenotypic severity.PMID 8609529Read ↗

Molecular analyses of Machado-Joseph disease.Semantic proximity Read ↗

Know Your Model: The role of sex in phenotype penetrance and severity.Semantic proximity Read ↗

Further insight into the thrifty phenotype.Semantic proximity Read ↗

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

[SHOX haploinsufficiency].Semantic proximity Read ↗

Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation SequencingSemantic proximity Read ↗

[Analyses of dominant mutations and their phenotypes: unraveling of physiological functions of retinoid and identification of the responsible gene for Machado-Joseph disease].Semantic proximity Read ↗

Polyglutamine diseases: The special case of ataxin-3 and Machado–Joseph diseaseSemantic proximity Read ↗

Phenotypic connections in surprising places.Semantic proximity Read ↗

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseasesSemantic proximity Read ↗

Identical mutations and phenotypic variation.Semantic proximity Read ↗

Homozygosity enhances severity in spinocerebellar ataxia type 3.Semantic proximity Read ↗

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