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Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes.
Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Peixoto Leal T, Miyashita A, Bellenguez C, Lian MM, Parveen K, Morizono T, Park H, Grenier-Boley B, Naito T, Küçükali F, Talyansky SD, Yogeshwar SM, Sempere V, Satake W, Alvarez V, Arosio B, Belloy ME, Benussi L, Boland A, Borroni B, Bullido MJ, Caffarra P, Clarimon J, Daniele A, Darling D, Debette S, Deleuze JF, Dichgans M, Dufouil C, During E, Düzel E, Galimberti D, Garcia-Ribas G, García-Alberca JM, García-González P, Giedraitis V, Goldhardt O, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jung YJ, Jürgen D, Kern S, Kuulasmaa T, Lee KH, Lin L, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Boada M, Mir P, Moebus S, Moreno F, Nacmias B, Nicolas G, Niida S, Nordestgaard BG, Papenberg G, Papma J, Parnetti L, Pasquier F, Pastor P, Peters O, Pijnenburg YAL, Piñol-Ripoll G, Popp J, Porcel LM, Puerta R, Pérez-Tur J, Rainero I, Ramakers I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Ross OA, Royo LJ, Rujescu D, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Skoog I, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Sánchez-Valle R, Tan EK, … See abstract for full author list ➔ Le Guen Y, et al. Among authors: pastor p. Proc Natl Acad Sci U S A. 2023 Sep 5;120(36):e2302720120. doi: 10.1073/pnas.2302720120. Epub 2023 Aug 29. Proc Natl Acad Sci U S A. 2023. PMID: 37643212 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.
Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease.
de Mena L, Coto E, Cardo LF, Díaz M, Blázquez M, Ribacoba R, Salvador C, Pastor P, Samaranch L, Moris G, Menéndez M, Corao AI, Alvarez V. de Mena L, et al. Among authors: pastor p. Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1234-9. doi: 10.1002/ajmg.b.31086. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468068
Genetic variation in APOE cluster region and Alzheimer's disease risk.
Cervantes S, Samaranch L, Vidal-Taboada JM, Lamet I, Bullido MJ, Frank-García A, Coria F, Lleó A, Clarimón J, Lorenzo E, Alonso E, Sánchez-Juan P, Rodríguez-Rodríguez E, Combarros O, Rosich M, Vilella E, Pastor P. Cervantes S, et al. Among authors: pastor p. Neurobiol Aging. 2011 Nov;32(11):2107.e7-17. doi: 10.1016/j.neurobiolaging.2011.05.023. Epub 2011 Jul 14. Neurobiol Aging. 2011. PMID: 21752496
LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
Lorenzo-Betancor O, Samaranch L, Ezquerra M, Tolosa E, Lorenzo E, Irigoyen J, Gaig C, Pastor MA, Soto-Ortolaza AI, Ross OA, Rodríguez-Oroz MC, Valldeoriola F, Martí MJ, Luquin MR, Perez-Tur J, Burguera JA, Obeso JA, Pastor P. Lorenzo-Betancor O, et al. Among authors: pastor p, pastor ma. Mov Disord. 2012 Jan;27(1):146-51. doi: 10.1002/mds.23968. Epub 2011 Oct 28. Mov Disord. 2012. PMID: 22038903
Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer's disease.
Rodríguez-Rodríguez E, Sánchez-Juan P, Vázquez-Higuera JL, Mateo I, Pozueta A, Berciano J, Cervantes S, Alcolea D, Martínez-Lage P, Clarimón J, Lleó A, Pastor P, Combarros O. Rodríguez-Rodríguez E, et al. Among authors: pastor p. J Neural Transm (Vienna). 2013 May;120(5):807-12. doi: 10.1007/s00702-012-0920-x. Epub 2012 Nov 20. J Neural Transm (Vienna). 2013. PMID: 23180304
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia.
Ruiz A, Dols-Icardo O, Bullido MJ, Pastor P, Rodríguez-Rodríguez E, López de Munain A, de Pancorbo MM, Pérez-Tur J, Alvarez V, Antonell A, López-Arrieta J, Hernández I, Tárraga L, Boada M, Lleó A, Blesa R, Frank-García A, Sastre I, Razquin C, Ortega-Cubero S, Lorenzo E, Sánchez-Juan P, Combarros O, Moreno F, Gorostidi A, Elcoroaristizabal X, Baquero M, Coto E, Sánchez-Valle R, Clarimón J; dementia genetic Spanish consortium (DEGESCO). Ruiz A, et al. Among authors: pastor p. Neurobiol Aging. 2014 Feb;35(2):444.e1-4. doi: 10.1016/j.neurobiolaging.2013.08.011. Epub 2013 Sep 13. Neurobiol Aging. 2014. PMID: 24041969 Free article.
Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.
Rubio-Moscardo F, Setó-Salvia N, Pera M, Bosch-Morató M, Plata C, Belbin O, Gené G, Dols-Icardo O, Ingelsson M, Helisalmi S, Soininen H, Hiltunen M, Giedraitis V, Lannfelt L, Frank A, Bullido MJ, Combarros O, Sánchez-Juan P, Boada M, Tárraga L, Pastor P, Pérez-Tur J, Baquero M, Molinuevo JL, Sánchez-Valle R, Fuentes-Prior P, Fortea J, Blesa R, Muñoz FJ, Lleó A, Valverde MA, Clarimón J. Rubio-Moscardo F, et al. Among authors: pastor p. PLoS One. 2013 Sep 17;8(9):e74203. doi: 10.1371/journal.pone.0074203. eCollection 2013. PLoS One. 2013. PMID: 24069280 Free PMC article.
413 results