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Intermediate and Expanded HTT Alleles and the Risk for α-Synucleinopathies.
Pérez-Oliveira S, Álvarez I, Rosas I, Menendez-González M, Blázquez-Estrada M, Aguilar M, Corte D, Buongiorno M, Molina-Porcel L, Aldecoa I, Martí MJ, Sánchez-Juan P, Infante J, González-Aramburu I, García-González P, Rosende-Roca M, Boada M, Ruiz A, Periñán MT, Macías-García D, Muñoz-Delgado L, Gómez-Garre P, Mir P, Clarimón J, Lleo A, Alcolea D, De la Casa-Fages B, Duarte I, Álvarez V, Pastor P. Pérez-Oliveira S, et al. Among authors: aguilar m. Mov Disord. 2022 Sep;37(9):1841-1849. doi: 10.1002/mds.29153. Epub 2022 Jul 19. Mov Disord. 2022. PMID: 35852957
Age at onset in LRRK2-associated PD is modified by SNCA variants.
Botta-Orfila T, Ezquerra M, Pastor P, Fernández-Santiago R, Pont-Sunyer C, Compta Y, Lorenzo-Betancor O, Samaranch L, Martí MJ, Valldeoriola F, Calopa M, Fernández M, Aguilar M, de Fabregas O, Hernández-Vara J, Tolosa E. Botta-Orfila T, et al. Among authors: aguilar m. J Mol Neurosci. 2012 Sep;48(1):245-7. doi: 10.1007/s12031-012-9820-7. Epub 2012 Jun 6. J Mol Neurosci. 2012. PMID: 22669510
Nonmotor symptoms in LRRK2 G2019S associated Parkinson's disease.
Gaig C, Vilas D, Infante J, Sierra M, García-Gorostiaga I, Buongiorno M, Ezquerra M, Martí MJ, Valldeoriola F, Aguilar M, Calopa M, Hernandez-Vara J, Tolosa E. Gaig C, et al. Among authors: aguilar m. PLoS One. 2014 Oct 17;9(10):e108982. doi: 10.1371/journal.pone.0108982. eCollection 2014. PLoS One. 2014. PMID: 25330404 Free PMC article.
The onset of nonmotor symptoms in Parkinson's disease (the ONSET PD study).
Pont-Sunyer C, Hotter A, Gaig C, Seppi K, Compta Y, Katzenschlager R, Mas N, Hofeneder D, Brücke T, Bayés A, Wenzel K, Infante J, Zach H, Pirker W, Posada IJ, Álvarez R, Ispierto L, De Fàbregues O, Callén A, Palasí A, Aguilar M, Martí MJ, Valldeoriola F, Salamero M, Poewe W, Tolosa E. Pont-Sunyer C, et al. Among authors: aguilar m. Mov Disord. 2015 Feb;30(2):229-37. doi: 10.1002/mds.26077. Epub 2014 Dec 1. Mov Disord. 2015. PMID: 25449044
Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers.
Vilas D, Ispierto L, Álvarez R, Pont-Sunyer C, Martí MJ, Valldeoriola F, Compta Y, de Fabregues O, Hernández-Vara J, Puente V, Calopa M, Jaumà S, Campdelacreu J, Aguilar M, Quílez P, Casquero P, Lomeña F, Ríos J, Tolosa E. Vilas D, et al. Among authors: aguilar m. Parkinsonism Relat Disord. 2015 Oct;21(10):1170-6. doi: 10.1016/j.parkreldis.2015.08.007. Epub 2015 Aug 12. Parkinsonism Relat Disord. 2015. PMID: 26306001
Nigral and striatal connectivity alterations in asymptomatic LRRK2 mutation carriers: A magnetic resonance imaging study.
Vilas D, Segura B, Baggio HC, Pont-Sunyer C, Compta Y, Valldeoriola F, José Martí M, Quintana M, Bayés A, Hernández-Vara J, Calopa M, Aguilar M, Junqué C, Tolosa E; the Barcelona LRRK2 Study Group. Vilas D, et al. Among authors: aguilar m. Mov Disord. 2016 Dec;31(12):1820-1828. doi: 10.1002/mds.26799. Epub 2016 Sep 21. Mov Disord. 2016. PMID: 27653520 Free article.
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, … See abstract for full author list ➔ Sims R, et al. Among authors: aguilar m. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.
Guerreiro R, Ross OA, Kun-Rodrigues C, Hernandez DG, Orme T, Eicher JD, Shepherd CE, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Ansorge O, Clarimon J, Lleo A, Morenas-Rodriguez E, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Serrano GE, Beach TG, Lesage S, Galasko D, Masliah E, Santana I, Pastor P, Diez-Fairen M, Aguilar M, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday GM, Hardy J, Trojanowski JQ, Dickson DW, Singleton A, Stone DJ, Bras J. Guerreiro R, et al. Among authors: aguilar m. Lancet Neurol. 2018 Jan;17(1):64-74. doi: 10.1016/S1474-4422(17)30400-3. Epub 2017 Dec 16. Lancet Neurol. 2018. PMID: 29263008 Free PMC article.
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: aguilar m. 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.
1,502 results