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Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.
Philtjens S, Van Mossevelde S, van der Zee J, Wauters E, Dillen L, Vandenbulcke M, Vandenberghe R, Ivanoiu A, Sieben A, Willems C, Benussi L, Ghidoni R, Binetti G, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, de Mendonça A, Miltenberger-Miltényi G, Hernández I, Boada M, Ruiz A, Nacmias B, Sorbi S, Almeida MR, Santana I, Clarimón J, Lleó A, Frisoni GB, Sanchez-Valle R, Lladó A, Gómez-Tortosa E, Gelpi E, Van den Broeck M, Peeters K, Cras P, De Deyn PP, Engelborghs S, Cruts M, Van Broeckhoven C; BELNEU Consortium; EU EOD Consortium. Philtjens S, et al. Among authors: hernandez i. Neurobiol Aging. 2018 Jun;66:181.e3-181.e10. doi: 10.1016/j.neurobiolaging.2018.02.011. Epub 2018 Feb 17. Neurobiol Aging. 2018. PMID: 29555433 Free 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.
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
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