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Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu JM, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper McLachlan D, et al. St George-Hyslop P, et al. Nat Genet. 1992 Dec;2(4):330-4. doi: 10.1038/ng1292-330. Nat Genet. 1992. PMID: 1303289 Free article.
No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.
Haines JL, Pritchard ML, Saunders AM, Schildkraut JM, Growdon JH, Gaskell PC, Farrer LA, Auerbach SA, Gusella JF, Locke PA, Rosi BL, Yamaoka L, Small GW, Conneally PM, Roses AD, Pericak-Vance M. Haines JL, et al. Ann N Y Acad Sci. 1996 Dec 16;802:35-41. doi: 10.1111/j.1749-6632.1996.tb32596.x. Ann N Y Acad Sci. 1996. PMID: 8993482
Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP. Rubio JP, et al. Am J Hum Genet. 1997 Oct;61(4):899-908. doi: 10.1086/514876. Am J Hum Genet. 1997. PMID: 9382101 Free PMC article.
Genome-wide scan for adult onset primary open angle glaucoma.
Wiggs JL, Allingham RR, Hossain A, Kern J, Auguste J, DelBono EA, Broomer B, Graham FL, Hauser M, Pericak-Vance M, Haines JL. Wiggs JL, et al. Hum Mol Genet. 2000 Apr 12;9(7):1109-17. doi: 10.1093/hmg/9.7.1109. Hum Mol Genet. 2000. PMID: 10767336
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP. Rampoldi L, et al. Nat Genet. 2001 Jun;28(2):119-20. doi: 10.1038/88821. Nat Genet. 2001. PMID: 11381253
699 results