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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, … See abstract for full author list ➔ Sims R, et al. Among authors: nacmias b. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
Molecular genetics of Alzheimer's disease in Italian families.
Sorbi S, Nacmias B, Mortilla M, Forleo P, Piacentini S, Amaducci L. Sorbi S, et al. Among authors: nacmias b. Neurochem Int. 1994 Jul;25(1):81-4. doi: 10.1016/0197-0186(94)90057-4. Neurochem Int. 1994. PMID: 7950975
APP717 and Alzheimer's disease in Italy.
Sorbi S, Nacmias B, Forleo P, Piacentini S, Amaducci L, Provinciali L. Sorbi S, et al. Among authors: nacmias b. Nat Genet. 1993 May;4(1):10. doi: 10.1038/ng0593-10. Nat Genet. 1993. PMID: 8513318 No abstract available.
Alzheimer's disease and apolipoprotein E in Italy.
Sorbi S, Nacmias B, Forleo P, Piacentini S, Amaducci L. Sorbi S, et al. Among authors: nacmias b. Ann N Y Acad Sci. 1996 Jan 17;777:260-5. doi: 10.1111/j.1749-6632.1996.tb34429.x. Ann N Y Acad Sci. 1996. PMID: 8624095
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. Among authors: nacmias b. Hum Mol Genet. 1996 Jul;5(7):985-8. doi: 10.1093/hmg/5.7.985. Hum Mol Genet. 1996. PMID: 8817335
Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder.
O'Donovan MC, Guy C, Craddock N, Bowen T, McKeon P, Macedo A, Maier W, Wildenauer D, Aschauer HN, Sorbi S, Feldman E, Mynett-Johnson L, Claffey E, Nacmias B, Valente J, Dourado A, Grassi E, Lenzinger E, Heiden AM, Moorhead S, Harrison D, Williams J, McGuffin P, Owen MJ. O'Donovan MC, et al. Among authors: nacmias b. Psychol Med. 1996 Nov;26(6):1145-53. doi: 10.1017/s0033291700035868. Psychol Med. 1996. PMID: 8931160
372 results