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Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.
Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Küçükali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, Napolioni V, Amouyel P, Jessen F, Kehoe PG, van Duijn C, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Rossi G, Hiltunen M, Sims R, van der Flier WM, Ramirez A, Andreassen OA, Frikke-Schmidt R, Williams J, Ruiz A, Lambert JC, Greicius MD; Members of the EADB, GR@ACE, DEGESCO, DemGene, GERAD, and EADI Groups; Arosio B, Benussi L, Boland A, Borroni B, Caffarra P, Daian D, Daniele A, Debette S, Dufouil C, Düzel E, Galimberti D, Giedraitis V, Grimmer T, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jürgen D, Kuulasmaa T, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Moebus S, Nacmias B, Nicolas G, Olaso R, Papenberg G, Parnetti L, Pasquier F, Peters O, Pijnenburg YAL, Popp J, Rainero I, Ramakers I, Riedel-Heller S, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Soininen H, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Tegos TJ, Tremolizzo L, Verhey F, Vyhnalek M, Wiltfang J, Boada M, García-González P, Puerta R, Real LM… See abstract for full author list ➔ Le Guen Y, et al. Among authors: bullido mj. JAMA Neurol. 2022 Jul 1;79(7):652-663. doi: 10.1001/jamaneurol.2022.1166. JAMA Neurol. 2022. PMID: 35639372 Free PMC article.
A TAP2 genotype associated with Alzheimer's disease in APOE4 carriers.
Bullido MJ, Martínez-García A, Artiga MJ, Aldudo J, Sastre I, Gil P, Coria F, Muñoz DG, Hachinski V, Frank A, Valdivieso F. Bullido MJ, et al. Neurobiol Aging. 2007 Apr;28(4):519-23. doi: 10.1016/j.neurobiolaging.2006.02.011. Epub 2006 Apr 3. Neurobiol Aging. 2007. PMID: 16595160
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. Guerreiro RJ, et al. Among authors: bullido mj. Neurobiol Aging. 2010 May;31(5):725-31. doi: 10.1016/j.neurobiolaging.2008.06.012. Epub 2008 Jul 30. Neurobiol Aging. 2010. PMID: 18667258 Free PMC article.
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: bullido mj. Nat Genet. 2009 Oct;41(10):1094-9. doi: 10.1038/ng.439. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734903 Free article.
A megalin polymorphism associated with promoter activity and Alzheimer's disease risk.
Vargas T, Bullido MJ, Martinez-Garcia A, Antequera D, Clarimon J, Rosich-Estrago M, Martin-Requero A, Mateo I, Rodriguez-Rodriguez E, Vilella-Cuadrada E, Frank A, Lleo A, Molina-Porcel L, Blesa R, Combarros O, Gomez-Isla T, Bermejo-Pareja F, Valdivieso F, Carro E. Vargas T, et al. Among authors: bullido mj. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):895-902. doi: 10.1002/ajmg.b.31056. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20052685
Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort.
Vázquez-Higuera JL, Martínez-García A, Sánchez-Juan P, Rodríguez-Rodríguez E, Mateo I, Pozueta A, Frank A, Valdivieso F, Berciano J, Bullido MJ, Combarros O. Vázquez-Higuera JL, et al. Among authors: bullido mj. Neurobiol Aging. 2011 Mar;32(3):550.e5-9. doi: 10.1016/j.neurobiolaging.2009.12.021. Epub 2010 Jan 22. Neurobiol Aging. 2011. PMID: 20096481
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. Among authors: bullido mj. BMC Med Genet. 2010 Feb 25;11:32. doi: 10.1186/1471-2350-11-32. BMC Med Genet. 2010. PMID: 20184726 Free PMC article.
Epistasis between intracellular cholesterol trafficking-related genes (NPC1 and ABCA1) and Alzheimer's disease risk.
Rodríguez-Rodríguez E, Vázquez-Higuera JL, Sánchez-Juan P, Mateo I, Pozueta A, Martínez-García A, Frank A, Valdivieso F, Berciano J, Bullido MJ, Combarros O. Rodríguez-Rodríguez E, et al. Among authors: bullido mj. J Alzheimers Dis. 2010;21(2):619-25. doi: 10.3233/JAD-2010-100432. J Alzheimers Dis. 2010. PMID: 20571217 Free article.
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