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Article

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

European neurology - 1 Jan 2000

Egan R A, Camicioli R, Popovich B W

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Source

Identifiers

PMID: 11053973
DOI: 10.1159/000008218

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements.PMID 11053973Read ↗

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.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 ↗

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 ↗

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 ↗

Machado‐joseph disease: Clinical, molecular, and metabolic characterization in chinese kindredsSemantic proximity Read ↗

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

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

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

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

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

Electrophysiological findings in a Danish family with Machado-Joseph disease.Semantic proximity Read ↗

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