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Long runs of homozygosity are associated with Alzheimer's disease.
Moreno-Grau S, Fernández MV, de Rojas I, Garcia-González P, Hernández I, Farias F, Budde JP, Quintela I, Madrid L, González-Pérez A, Montrreal L, Alarcón-Martín E, Alegret M, Maroñas O, Pineda JA, Macías J; GR@ACE study group; DEGESCO consortium; Marquié M, Valero S, Benaque A, Clarimón J, Bullido MJ, García-Ribas G, Pástor P, Sánchez-Juan P, Álvarez V, Piñol-Ripoll G, García-Alberca JM, Royo JL, Franco-Macías E, Mir P, Calero M, Medina M, Rábano A, Ávila J, Antúnez C, Real LM, Orellana A, Carracedo Á, Sáez ME, Tárraga L, Boada M, Cruchaga C, Ruiz A; Alzheimer’s Disease Neuroimaging Initiative. Moreno-Grau S, et al. Among authors: pastor p. Transl Psychiatry. 2021 Feb 24;11(1):142. doi: 10.1038/s41398-020-01145-1. Transl Psychiatry. 2021. PMID: 33627629 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: pastor p. 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.
5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration.
Cruchaga C, Vidal-Taboada JM, Ezquerra M, Lorenzo E, Martinez-Lage P, Blazquez M, Tolosa E; Iberian Atypical Parkinsonism Study Group Researchers; Pastor P. Cruchaga C, et al. Among authors: pastor p. Neurobiol Dis. 2009 Feb;33(2):164-70. doi: 10.1016/j.nbd.2008.09.027. Epub 2008 Nov 1. Neurobiol Dis. 2009. PMID: 19022385
413 results