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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Martins S, Yahia A, Costa IPD, Siddig HE, Abubaker R, Koko M, Corral-Juan M, Matilla-Dueñas A, Brice A, Durr A, Leguern E, Ranum LPW, Amorim A, Elsayed LEO, Stevanin G, Sequeiros J. Martins S, et al. Among authors: durr a. Hum Genet. 2023 Dec;142(12):1747-1754. doi: 10.1007/s00439-023-02611-8. Epub 2023 Nov 14. Hum Genet. 2023. PMID: 37957369 Free PMC article.
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.
Stevanin G, Cancel G, Didierjean O, Dürr A, Abbas N, Cassa E, Feingold J, Agid Y, Brice A. Stevanin G, et al. Among authors: durr a. Am J Hum Genet. 1995 Nov;57(5):1247-50. Am J Hum Genet. 1995. PMID: 7485178 Free PMC article. No abstract available.
Gender equality in Machado-Joseph disease.
Dürr A, Stevanin G, Cancel G, Abbas N, Chneiweiss H, Agid Y, Feingold J, Brice A. Dürr A, et al. Nat Genet. 1995 Oct;11(2):118-9. doi: 10.1038/ng1095-118a. Nat Genet. 1995. PMID: 7550335 No abstract available.
767 results