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Page 1
Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation.
Ramos-Campoy O, Ávila-Polo R, Grau-Rivera O, Antonell A, Clarimón J, Rojas-García R, Charif S, Santiago-Valera V, Hernandez I, Aguilar M, Almenar C, Lopez-Villegas D, Bajo L, Pastor P, Van der Zee J, Lladó A, Sanchez-Valle R, Gelpi E. Ramos-Campoy O, et al. Among authors: aguilar m. J Neuropathol Exp Neurol. 2018 Aug 1;77(8):703-709. doi: 10.1093/jnen/nly047. J Neuropathol Exp Neurol. 2018. PMID: 29889265 Free 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.
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.
Baradaran-Heravi Y, Dillen L, Nguyen HP, Van Mossevelde S, Baets J, De Jonghe P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenberghe R, Van Damme P, Cras P, Salmon E, Synofzik M, Heutink P, Wilke C, Simon-Sanchez J, Rojas-Garcia R, Turon-Sans J, Lleó A, Illán-Gala I, Clarimón J, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, Gelpi E, Sanchez-Valle R, Borrego-Ecija S, Matej R, Parobkova E, Nacmias B, Sorbi S, Bagnoli S, de Mendonça A, Ferreira C, Fraidakis MJ, Diehl-Schmid J, Alexopoulos P, Almeida MR, Santana I, Van Broeckhoven C, van der Zee J; BELNEU Consortium; EU EOD Consortium. Baradaran-Heravi Y, et al. Among authors: aguilar m. Neurobiol Aging. 2018 Sep;69:293.e9-293.e11. doi: 10.1016/j.neurobiolaging.2018.05.005. Epub 2018 May 23. Neurobiol Aging. 2018. PMID: 29886022 Free article.
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen M, Benitez BA, Ortega-Cubero S, Lorenzo-Betancor O, Cruchaga C, Lorenzo E, Samaranch L, Carcel M, Obeso JA, Rodriguez-Oroz MC, Aguilar M, Coria F, Pastor MA, Pastor P. Diez-Fairen M, et al. Among authors: aguilar m. Neurobiol Aging. 2018 Oct;70:325.e1-325.e5. doi: 10.1016/j.neurobiolaging.2018.05.008. Epub 2018 May 14. Neurobiol Aging. 2018. PMID: 29887346
A comprehensive screening of copy number variability in dementia with Lewy bodies.
Kun-Rodrigues C, Orme T, Carmona S, Hernandez DG, Ross OA, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Dawson T, Rosenthal L, 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, Guerreiro R, Bras J. Kun-Rodrigues C, et al. Among authors: aguilar m. Neurobiol Aging. 2019 Mar;75:223.e1-223.e10. doi: 10.1016/j.neurobiolaging.2018.10.019. Epub 2018 Oct 24. Neurobiol Aging. 2019. PMID: 30448004 Free PMC article.
LRP10 in α-synucleinopathies.
Kia DA, Sabir MS, Ahmed S, Trinh J, Bandres-Ciga S; International Parkinson's Disease Genomics Consortium. Kia DA, et al. Lancet Neurol. 2018 Dec;17(12):1032. doi: 10.1016/S1474-4422(18)30401-0. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507383 No abstract available.
Heritability and genetic variance of dementia with Lewy bodies.
Guerreiro R, Escott-Price V, Hernandez DG, Kun-Rodrigues C, Ross OA, Orme T, Neto JL, Carmona S, Dehghani N, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Dawson T, Rosenthal L, 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, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday GM, Hardy J, Trojanowski JQ, Dickson DW, Singleton A; International Parkinson's Disease Genomics Consortium; Stone DJ, Bras J. Guerreiro R, et al. Among authors: aguilar m. Neurobiol Dis. 2019 Jul;127:492-501. doi: 10.1016/j.nbd.2019.04.004. Epub 2019 Apr 3. Neurobiol Dis. 2019. PMID: 30953760 Free PMC article.
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Vargas-González L, Diez-Fairen M, Alvarez I, Tartari JP, Buongiorno M, Aguilar M, Gorostidi A, Bergareche JA, Mondragon E, Vinagre-Aragon A, Croitoru I, Ruiz-Martínez J, Dols-Icardo O, Kulisevsky J, Marín-Lahoz J, Pagonabarraga J, Pascual-Sedano B, Ezquerra M, Cámara A, Compta Y, Fernández M, Fernández-Santiago R, Muñoz E, Tolosa E, Valldeoriola F, Gonzalez-Aramburu I, Sanchez Rodriguez A, Sierra M, Menéndez-González M, Blazquez M, Garcia C, Suarez-San Martin E, García-Ruiz P, Martínez-Castrillo JC, Vela-Desojo L, Ruz C, Barrero FJ, Escamilla-Sevilla F, Mínguez-Castellanos A, Cerdan D, Tabernero C, Gomez Heredia MJ, Perez Errazquin F, Romero-Acebal M, Feliz C, Lopez-Sendon JL, Mata M, Martínez Torres I, Kim JJ, Dalgard CL; American Genome Center; Brooks J, Saez-Atienzar S, Gibbs JR, Jorda R, Botia JA, Bonet-Ponce L, Morrison KE, Clarke C, Tan M, Morris H, Edsall C, Hernandez D, Simon-Sanchez J, Nalls MA, Scholz SW, J… See abstract for full author list ➔ Bandres-Ciga S, et al. Among authors: aguilar m. Mov Disord. 2019 Dec;34(12):1851-1863. doi: 10.1002/mds.27864. Epub 2019 Oct 29. Mov Disord. 2019. PMID: 31660654 Free PMC article.
1,498 results