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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, Williams… See abstract for full author list ➔ Holstege H, et al. 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.
Association of genetic variants of ABCA1 with Alzheimer's disease risk.
Rodríguez-Rodríguez E, Mateo I, Llorca J, Sánchez-Quintana C, Infante J, García-Gorostiaga I, Sánchez-Juan P, Berciano J, Combarros O. Rodríguez-Rodríguez E, et al. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):964-8. doi: 10.1002/ajmg.b.30552. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17510946
The apolipoprotein E gene and its age-specific effects on cognitive function.
Liu F, Pardo LM, Schuur M, Sanchez-Juan P, Isaacs A, Sleegers K, de Koning I, Zorkoltseva IV, Axenovich TI, Witteman JC, Janssens AC, van Swieten JC, Aulchenko YS, Oostra BA, van Duijn CM. Liu F, et al. Neurobiol Aging. 2010 Oct;31(10):1831-3. doi: 10.1016/j.neurobiolaging.2008.09.015. Epub 2008 Nov 11. Neurobiol Aging. 2010. PMID: 19004527
No association of CDK5 genetic variants with Alzheimer's disease risk.
Vázquez-Higuera JL, Mateo I, Sánchez-Juan P, Rodríguez-Rodríguez E, Infante J, Berciano J, Combarros O. Vázquez-Higuera JL, et al. BMC Med Genet. 2009 Jul 17;10:68. doi: 10.1186/1471-2350-10-68. BMC Med Genet. 2009. PMID: 19615060 Free PMC article.
Caspase-1 genetic variation is not associated with Alzheimer's disease risk.
Vázquez-Higuera JL, Rodríguez-Rodríguez E, Sánchez-Juan P, Mateo I, Pozueta A, Martínez-García A, Frank A, Valdivieso F, Berciano J, Bullido MJ, Combarros O. Vázquez-Higuera JL, et al. BMC Med Genet. 2010 Feb 25;11:32. doi: 10.1186/1471-2350-11-32. BMC Med Genet. 2010. PMID: 20184726 Free PMC article.
IGF-I gene variability is associated with an increased risk for AD.
Vargas T, Martinez-Garcia A, Antequera D, Vilella E, Clarimon J, Mateo I, Sanchez-Juan P, Rodriguez-Rodriguez E, Frank A, Rosich-Estrago M, Lleo A, Molina-Porcel L, Blesa R, Gomez-Isla T, Combarros O, Bermejo-Pareja F, Valdivieso F, Bullido MJ, Carro E. Vargas T, et al. Neurobiol Aging. 2011 Mar;32(3):556.e3-11. doi: 10.1016/j.neurobiolaging.2010.10.017. Epub 2010 Dec 22. Neurobiol Aging. 2011. PMID: 21176999
219 results