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Article

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.

Aging - 23 Mar 2020

Akçimen Fulya, Martins Sandra, Liao Calwing, Bourassa Cynthia V, Catoire Hélène, Nicholson Garth A, Riess Olaf, Raposo Mafalda, França Marcondes C, Vasconcelos João, Lima Manuela, Lopes-Cendes Iscia, Saraiva-Pereira Maria Luiza, Jardim Laura B, Sequeiros Jorge, Dion Patrick A, Rouleau Guy A

Abstract excerpt

Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly explains the disease age at onset (AO) variability of MJD, which is confirmed in this study (Pearson's correlation coefficient R2 = 0.62). Using a total of 786 MJD patients from...

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Identifiers

PMID: 32205469
DOI: 10.18632/aging.102825
PMCID: PMC7138549

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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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Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.PMID 32205469Read ↗

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