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Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
Igarashi S, Takiyama Y, Cancel G, Rogaeva EA, Sasaki H, Wakisaka A, Zhou YX, Takano H, Endo K, Sanpei K, Oyake M, Tanaka H, Stevanin G, Abbas N, Dürr A, Rogaev EI, Sherrington R, Tsuda T, Ikeda M, Cassa E, Nishizawa M, Benomar A, Julien J, Weissenbach J, Wang GX, Agid Y, St George-Hyslop PH, Brice A, Tsuji S. Igarashi S, et al. Hum Mol Genet. 1996 Jul;5(7):923-32. doi: 10.1093/hmg/5.7.923. Hum Mol Genet. 1996. PMID: 8817326
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH. Sherrington R, et al. Nature. 1995 Jun 29;375(6534):754-60. doi: 10.1038/375754a0. Nature. 1995. PMID: 7596406
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA, Levesque G, Rogaev EI, Lin C, Liang Y, Ikeda M, Mar L, Brice A, Agid Y, Percy ME, Clerget-Darpoux F, Piacentini S, Marcon G, Nacmias B, Amaducci L, Frebourg T, Lannfelt L, Rommens JM, St George-Hyslop PH. Sherrington R, et al. Hum Mol Genet. 1996 Jul;5(7):985-8. doi: 10.1093/hmg/5.7.985. Hum Mol Genet. 1996. PMID: 8817335
391 results