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Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

Archives of neurology - 1 Oct 2007

Martins Sandra, Calafell Francesc, Gaspar Claudia, Wong Virginia C N, Silveira Isabel, Nicholson Garth A, Brunt Ewout R, Tranebjaerg Lisbeth, Stevanin Giovanni, Hsieh Mingli, Soong Bing-Wen, Loureiro Leal, Dürr Alexandra, Tsuji Shoji, Watanabe Mitsunori, Jardim Laura B, Giunti Paola, Riess Olaf, Ranum Laura P W, Brice Alexis, Rouleau Guy A, Coutinho Paula, Amorim António, Sequeiros Jorge

Abstract excerpt

BACKGROUND: Machado-Joseph disease is the most frequent dominant ataxia worldwide. Despite its frequency and presence in many populations, only 2 founder mutations have been suggested to explain its current geographic distribution. OBJECTIVES: To trace back in history the main mutational events in Machado-Joseph disease, we aimed to assess ancestral haplotypes and population backgrounds, to date the mutations,...

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Identifiers

PMID: 17923634
DOI: 10.1001/archneur.64.10.1502

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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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