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Article

Mutation detection in Machado-Joseph disease using repeat expansion detection.

Molecular medicine (Cambridge, Mass.) - 1 Jan 1996

Lindblad K, Lunkes A, Maciel P, Stevanin G, Zander C, Klockgether T, Ratzlaff T, Brice A, Rouleau G A, Hudson T, Auburger G, Schalling M

Abstract excerpt

BACKGROUND: Several neurological disorders have recently been explained through the discovery of expanded DNA repeat sequences. Among these is Machado-Joseph disease, one of the most common spinocerebellar ataxias (MJD/SCA3), caused by a CAG repeat expansion on chromosome 14. A useful way of dete...

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Identifiers

PMID: 8900536
PMCID: PMC2230032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8900536-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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Mutation detection in Machado-Joseph disease using repeat expansion detection.PMID 8900536Read ↗

An expanded CAG repeat sequence in spinocerebellar ataxia type 7.Semantic proximity Read ↗

Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies.Semantic proximity Read ↗

Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD).Semantic proximity Read ↗

High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.Semantic proximity Read ↗

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

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.Semantic proximity Read ↗

[Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease].Semantic proximity Read ↗

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.Semantic proximity Read ↗

Insertion of expanded CAG trinucleotide repeat motifs into a yeast artificial chromosome containing the human Machado-Joseph disease gene.Semantic proximity Read ↗

Improvement in the molecular diagnosis 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 ↗

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.Semantic proximity Read ↗

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