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Article

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

Journal of the neurological sciences - 1 Nov 1995

Sasaki H, Wakisaka A, Fukazawa T, Iwabuchi K, Hamada T, Takada A, Mukai E, Matsuura T, Yoshiki T, Tashiro K

Abstract excerpt

Machado-Joseph disease (MJD) is caused by abnormal expansion of an unstable CAG repeat in a novel gene locating on chromosome 14q32.1. We analysed this CAG repeat polymorphism with 66 Japanese MJD patients. All the patients were selectively associated with abnormal expansion of the CAG repeat. Repeat length of the mutant allele did not overlap that of normal allele and closely correlated with not only age at...

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Identifiers

PMID: 8583215
DOI: 10.1016/0022-510x(95)00175-2

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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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CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.PMID 8583215Read ↗

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.Semantic 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 ↗

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.Semantic proximity Read ↗

Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene.Semantic proximity Read ↗

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.Semantic proximity Read ↗

The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease.Semantic proximity Read ↗

Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease.Semantic proximity Read ↗

A large Japanese family with Machado-Joseph disease: clinical and genetic analysis.Semantic proximity Read ↗

A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements.Semantic proximity Read ↗

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus.Semantic proximity Read ↗

Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.Semantic proximity Read ↗

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