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TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S. van der Zee J, et al. Among authors: hernandez i. Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19. Hum Mutat. 2017. PMID: 28008748 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.
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
Exploratory analysis of seven Alzheimer's disease genes: disease progression.
Ruiz A, Hernández I, Ronsende-Roca M, González-Pérez A, Rodriguez-Noriega E, Ramírez-Lorca R, Mauleón A, Moreno-Rey C, Boswell L, Tune L, Valero S, Alegret M, Gayán J, Becker JT, Real LM, Tárraga L, Ballard C, Terrin M, Sherman S, Payami H, López OL, Mintzer JE, Boada M. Ruiz A, et al. Among authors: hernandez i. Neurobiol Aging. 2013 Apr;34(4):1310.e1-7. doi: 10.1016/j.neurobiolaging.2012.08.014. Epub 2012 Oct 1. Neurobiol Aging. 2013. PMID: 23036585 Free PMC article.
1,091 results