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Page 1
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kaw… See abstract for full author list ➔ van der Lee SJ, et al. Among authors: hernandez i. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 Free PMC article.
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: hernandez i. 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.
Amyloid-targeted therapeutics in Alzheimer's disease: use of human albumin in plasma exchange as a novel approach for Abeta mobilization.
Boada M, Ortiz P, Anaya F, Hernández I, Muñoz J, Núñez L, Olazarán J, Roca I, Cuberas G, Tárraga L, Buendia M, Pla RP, Ferrer I, Páez A. Boada M, et al. Among authors: hernandez i. Drug News Perspect. 2009 Jul-Aug;22(6):325-39. doi: 10.1358/dnp.2009.22.6.1395256. Drug News Perspect. 2009. PMID: 19771322 Free article. Review.
Genome-wide analysis of genetic loci associated with Alzheimer disease.
Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M, Bis JC, Smith AV, Carassquillo MM, Lambert JC, Harold D, Schrijvers EM, Ramirez-Lorca R, Debette S, Longstreth WT Jr, Janssens AC, Pankratz VS, Dartigues JF, Hollingworth P, Aspelund T, Hernandez I, Beiser A, Kuller LH, Koudstaal PJ, Dickson DW, Tzourio C, Abraham R, Antunez C, Du Y, Rotter JI, Aulchenko YS, Harris TB, Petersen RC, Berr C, Owen MJ, Lopez-Arrieta J, Varadarajan BN, Becker JT, Rivadeneira F, Nalls MA, Graff-Radford NR, Campion D, Auerbach S, Rice K, Hofman A, Jonsson PV, Schmidt H, Lathrop M, Mosley TH, Au R, Psaty BM, Uitterlinden AG, Farrer LA, Lumley T, Ruiz A, Williams J, Amouyel P, Younkin SG, Wolf PA, Launer LJ, Lopez OL, van Duijn CM, Breteler MM; CHARGE Consortium; GERAD1 Consortium; EADI1 Consortium. Seshadri S, et al. Among authors: hernandez i. JAMA. 2010 May 12;303(18):1832-40. doi: 10.1001/jama.2010.574. JAMA. 2010. PMID: 20460622 Free PMC article.
Estrogen receptor alpha gene variants are associated with Alzheimer's disease.
Boada M, Antunez C, López-Arrieta J, Caruz A, Moreno-Rey C, Ramírez-Lorca R, Morón FJ, Hernández I, Mauleón A, Rosende-Roca M, Martínez-Lage P, Marín J, Tárraga L, Alegret M, Pedrajas JR, Urda N, Royo JL, Saez ME, Gayán J, González-Pérez A, Real LM, Ruiz A, Galán JJ. Boada M, et al. Among authors: hernandez i. Neurobiol Aging. 2012 Jan;33(1):198.e15-24. doi: 10.1016/j.neurobiolaging.2010.06.016. Epub 2010 Jul 31. Neurobiol Aging. 2012. PMID: 20674091
Genetic association of complement receptor 1 polymorphism rs3818361 in Alzheimer's disease.
Antúnez C, Boada M, López-Arrieta J, Moreno-Rey C, Hernández I, Marín J, Gayán J; Alzheimer's Disease Neuroimaging Initiative; González-Pérez A, Real LM, Alegret M, Tárraga L, Ramírez-Lorca R, Ruiz A. Antúnez C, et al. Among authors: hernandez i. Alzheimers Dement. 2011 Jul;7(4):e124-9. doi: 10.1016/j.jalz.2011.05.2412. Alzheimers Dement. 2011. PMID: 21784344
1,138 results