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Amyloid deposition as the central event in the aetiology of Alzheimer's disease.

Hardy J, Allsop D. Hardy J, et al. Trends Pharmacol Sci. 1991 Oct;12(10):383-8. doi: 10.1016/0165-6147(91)90609-v. Trends Pharmacol Sci. 1991. PMID: 1763432 Review.

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Glycine 384 is required for presenilin-1 function and is conserved in bacterial polytopic aspartyl proteases.

Steiner H, Kostka M, Romig H, Basset G, Pesold B, Hardy J, Capell A, Meyn L, Grim ML, Baumeister R, Fechteler K, Haass C. Steiner H, et al. Among authors: hardy j. Nat Cell Biol. 2000 Nov;2(11):848-51. doi: 10.1038/35041097. Nat Cell Biol. 2000. PMID: 11056541

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A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques.

Steiner H, Revesz T, Neumann M, Romig H, Grim MG, Pesold B, Kretzschmar HA, Hardy J, Holton JL, Baumeister R, Houlden H, Haass C. Steiner H, et al. Among authors: hardy j. J Biol Chem. 2001 Mar 9;276(10):7233-9. doi: 10.1074/jbc.M007183200. Epub 2000 Nov 17. J Biol Chem. 2001. PMID: 11084029 Free article.

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Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut B, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, Van Broeckhoven C. De Jonghe C, et al. Among authors: hardy j. Hum Mol Genet. 1999 Aug;8(8):1529-40. doi: 10.1093/hmg/8.8.1529. Hum Mol Genet. 1999. PMID: 10401002

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Truncated presenilin 2 derived from differentially spliced mRNA does not affect the ratio of amyloid beta-peptide 1-42/1-40.

Grünberg J, Walter J, Eckman C, Capell A, Schindzielorz A, Younkin S, Mehta N, Hardy J, Haass C. Grünberg J, et al. Among authors: hardy j. Neuroreport. 1998 Oct 5;9(14):3293-9. doi: 10.1097/00001756-199810050-00027. Neuroreport. 1998. PMID: 9831466

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Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C. Cruts M, et al. Among authors: hardy j. Hum Mol Genet. 1998 Jan;7(1):43-51. doi: 10.1093/hmg/7.1.43. Hum Mol Genet. 1998. PMID: 9384602

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The role of presenilin 1 in the genetics of Alzheimer's disease.

Clark RF, Hutton M, Talbot C, Wragg M, Lendon C, Busfield F, Han SW, Perez-Tur J, Adams M, Fuldner R, Roberts G, Karran E, Hardy J, Goate A. Clark RF, et al. Among authors: hardy j. Cold Spring Harb Symp Quant Biol. 1996;61:551-8. Cold Spring Harb Symp Quant Biol. 1996. PMID: 9246481

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Alteration in brain presenilin 1 mRNA expression in early onset familial Alzheimer's disease.

Barton AJ, Crook BW, Karran EH, Brown F, Dewar D, Mann DM, Pearson RC, Graham DI, Hardy J, Hutton M, Duff K, Goate AM, Clark RF, Roberts GW. Barton AJ, et al. Among authors: hardy j. Neurodegeneration. 1996 Sep;5(3):213-8. doi: 10.1006/neur.1996.0029. Neurodegeneration. 1996. PMID: 8910899

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Microsatellite D21S210 (GT-12) allele frequencies in sporadic Alzheimer's disease.

Lannfelt L, Lilius L, Viitanen M, Houlden H, Rossor M, Hardy J, Winblad B, Basun H. Lannfelt L, et al. Among authors: hardy j. Acta Neurol Scand. 1995 Feb;91(2):145-8. doi: 10.1111/j.1600-0404.1995.tb00422.x. Acta Neurol Scand. 1995. PMID: 7785426

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A novel Alzheimer disease locus located near the gene encoding tau protein.

Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH Jr, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L; IGAP Consortium, Haines JL, Psaty BM, Van Broeckhoven C, Holmans P, Launer LJ, Mayeux R, Lathrop M, Goate AM, Escott-Price V, Seshadri S, Pericak-Vance MA, Amouyel P, Williams J, van Duijn CM, Schellenberg GD, Farrer LA. Jun G, et al. Among authors: hardy j. Mol Psychiatry. 2016 Jan;21(1):108-17. doi: 10.1038/mp.2015.23. Epub 2015 Mar 17. Mol Psychiatry. 2016. PMID: 25778476 Free PMC article.

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