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Page 1
Genomic Characterization of Host Factors Related to SARS-CoV-2 Infection in People with Dementia and Control Populations: The GR@ACE/DEGESCO Study.
de Rojas I, Hernández I, Montrreal L, Quintela I, Calero M, Royo JL, Huerto Vilas R, González-Pérez A, Franco-Macías E, Macías J, Menéndez-González M, Frank-García A, Diez-Fairen M, Lage C, García-Madrona S, Aguilera N, García-González P, Puerta R, Sotolongo-Grau O, Alonso-Lana S, Rábano A, Arias Pastor A, Pastor AB, Corma-Gómez A, Martín Montes A, Martínez Rodríguez C, Buiza-Rueda D, Periñán MT, Rodriguez-Rodriguez E, Alvarez I, Rosas Allende I, Pineda JA, Bernal Sánchez-Arjona M, Fernández-Fuertes M, Mendoza S, Del Ser T, Gr Ace/Degesco Consortium, Garcia-Ribas G, Sánchez-Juan P, Pastor P, Bullido MJ, Álvarez V, Real LM, Mir P, Piñol-Ripoll G, García-Alberca JM, Medina M, Orellana A, Butler CR, Marquié M, Sáez ME, Carracedo Á, Tárraga L, Boada M, Ruiz A. de Rojas I, et al. J Pers Med. 2021 Dec 7;11(12):1318. doi: 10.3390/jpm11121318. J Pers Med. 2021. PMID: 34945790 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. 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.
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Ibanez L, Dube U, Davis AA, Fernandez MV, Budde J, Cooper B, Diez-Fairen M, Ortega-Cubero S, Pastor P, Perlmutter JS, Cruchaga C, Benitez BA. Ibanez L, et al. Front Neurosci. 2018 Apr 10;12:230. doi: 10.3389/fnins.2018.00230. eCollection 2018. Front Neurosci. 2018. PMID: 29692703 Free PMC article.
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Fr… See abstract for full author list ➔ Kunkle BW, et al. Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28. Nat Genet. 2019. PMID: 30820047 Free PMC article.
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A,… See abstract for full author list ➔ van der Lee SJ, et al. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 Free PMC article.
Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Fr… See abstract for full author list ➔ Kunkle BW, et al. Nat Genet. 2019 Sep;51(9):1423-1424. doi: 10.1038/s41588-019-0495-7. Nat Genet. 2019. PMID: 31417202 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, Jimenez-… See abstract for full author list ➔ Bandres-Ciga S, et al. 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.
Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease.
Rosas I, Martínez C, Clarimón J, Lleó A, Illán-Gala I, Dols-Icardo O, Borroni B, Almeida MR, van der Zee J, Van Broeckhoven C, Bruni AC, Anfossi M, Bernardi L, Maletta R, Serpente M, Galimberti D, Scarpini E, Rossi G, Caroppo P, Benussi L, Ghidoni R, Binetti G, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Antonell A, Sánchez-Valle R, De la Casa-Fages B, Grandas F, Diez-Fairen M, Pastor P, Ferrari R, Álvarez V, Menéndez-González M. Rosas I, et al. Neurobiol Aging. 2020 Mar;87:139.e1-139.e7. doi: 10.1016/j.neurobiolaging.2019.10.017. Epub 2019 Nov 1. Neurobiol Aging. 2020. PMID: 31810584
89 results