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Article

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

European journal of human genetics : EJHG - 1 Jan 1996

Lerer I, Merims D, Abeliovich D, Zlotogora J, Gadoth N

Abstract excerpt

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with the expansion of a CAG trinucleotide repeat in the MJD1 gene located on 14q32.1. We confirmed that the CAG expansion caused MJD in a Yemenite Jewish family and demonstrated that most of the clinical variation among members of this family was due to the genotype of the affected individuals. Six patients who presented...

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PMID: 8800925
DOI: 10.1159/000472162

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

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Related research

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Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.PMID 8800925Read ↗

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 ↗

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 ↗

Improvement in the molecular diagnosis of Machado-Joseph disease.Semantic proximity Read ↗

The relationship between trinucleotide repeat length and phenotypic variation in 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 ↗

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.Semantic proximity Read ↗

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

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

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 ↗

Machado-Joseph Disease: from first descriptions to new perspectives.Semantic proximity Read ↗

Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n.Semantic proximity Read ↗

Machado-Joseph disease in three Scandinavian families.Semantic proximity Read ↗

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