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Page 1
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: galimberti d. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition.
Kauwe JS, Cruchaga C, Mayo K, Fenoglio C, Bertelsen S, Nowotny P, Galimberti D, Scarpini E, Morris JC, Fagan AM, Holtzman DM, Goate AM. Kauwe JS, et al. Among authors: galimberti d. Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8050-4. doi: 10.1073/pnas.0801227105. Epub 2008 Jun 9. Proc Natl Acad Sci U S A. 2008. PMID: 18541914 Free PMC article.
A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk.
Dreses-Werringloer U, Lambert JC, Vingtdeux V, Zhao H, Vais H, Siebert A, Jain A, Koppel J, Rovelet-Lecrux A, Hannequin D, Pasquier F, Galimberti D, Scarpini E, Mann D, Lendon C, Campion D, Amouyel P, Davies P, Foskett JK, Campagne F, Marambaud P. Dreses-Werringloer U, et al. Among authors: galimberti d. Cell. 2008 Jun 27;133(7):1149-61. doi: 10.1016/j.cell.2008.05.048. Cell. 2008. PMID: 18585350 Free PMC article.
Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?
Hansmannel F, Lendon C, Pasquier F, Dumont J, Hannequin D, Chapuis J, Laumet G, Ayral AM, Galimberti D, Scarpini E, Campion D, Amouyel P, Lambert JC. Hansmannel F, et al. Among authors: galimberti d. Neurosci Lett. 2009 Jan 2;449(1):76-80. doi: 10.1016/j.neulet.2008.10.081. Epub 2008 Oct 28. Neurosci Lett. 2009. PMID: 18983895
Study of thyroid hormone receptor alpha gene polymorphisms on Alzheimer's disease.
Goumidi L, Flamant F, Lendon C, Galimberti D, Pasquier F, Scarpini E, Hannequin D, Campion D, Amouyel P, Lambert JC, Meirhaeghe A. Goumidi L, et al. Among authors: galimberti d. Neurobiol Aging. 2011 Apr;32(4):624-30. doi: 10.1016/j.neurobiolaging.2009.04.007. Epub 2009 May 7. Neurobiol Aging. 2011. PMID: 19427062
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O; European Alzheimer's Disease Initiative Investigators; de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P. Lambert JC, et al. Among authors: galimberti d. Nat Genet. 2009 Oct;41(10):1094-9. doi: 10.1038/ng.439. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734903 Free article.
Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients.
Lescai F, Pirazzini C, D'Agostino G, Santoro A, Ghidoni R, Benussi L, Galimberti D, Federica E, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Bagnoli S, Tagliavini F, Albani D, Martinelli Boneschi F, Binetti G, Forloni G, Quadri P, Scarpini E, Franceschi C. Lescai F, et al. Among authors: d agostino g, galimberti d. J Alzheimers Dis. 2010;21(2):385-8. doi: 10.3233/JAD-2010-091516. J Alzheimers Dis. 2010. PMID: 20555150
The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
Lambert JC, Sleegers K, González-Pérez A, Ingelsson M, Beecham GW, Hiltunen M, Combarros O, Bullido MJ, Brouwers N, Bettens K, Berr C, Pasquier F, Richard F, Dekosky ST, Hannequin D, Haines JL, Tognoni G, Fiévet N, Dartigues JF, Tzourio C, Engelborghs S, Arosio B, Coto E, De Deyn P, Del Zompo M, Mateo I, Boada M, Antunez C, Lopez-Arrieta J, Epelbaum J, Schjeide BM, Frank-Garcia A, Giedraitis V, Helisalmi S, Porcellini E, Pilotto A, Forti P, Ferri R, Delepine M, Zelenika D, Lathrop M, Scarpini E, Siciliano G, Solfrizzi V, Sorbi S, Spalletta G, Ravaglia G, Valdivieso F, Vepsäläinen S, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Hanon O, Piccardi P, Annoni G, Mann D, Marambaud P, Seripa D, Galimberti D, Tanzi RE, Bertram L, Lendon C, Lannfelt L, Licastro F, Campion D, Pericak-Vance MA, Soininen H, Van Broeckhoven C, Alpérovitch A, Ruiz A, Kamboh MI, Amouyel P. Lambert JC, et al. Among authors: galimberti d. J Alzheimers Dis. 2010;22(1):247-55. doi: 10.3233/JAD-2010-100933. J Alzheimers Dis. 2010. PMID: 20847397 Free PMC article.
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