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Page 1
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: pastor p. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 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
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration.
Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, Rademakers R, Morrison KE, Pastor P, Alonso E, Martinez-Lage P, Graff-Radford N, Neary D, Heutink P, Mann DM, Van Swieten J, Pickering-Brown SM. Rollinson S, et al. Among authors: pastor p. Neurobiol Aging. 2009 Apr;30(4):656-65. doi: 10.1016/j.neurobiolaging.2009.01.009. Epub 2009 Feb 12. Neurobiol Aging. 2009. PMID: 19217189 Free PMC article.
The effect of MAPT H1 and APOE ε4 on transition from mild cognitive impairment to dementia.
Samaranch L, Cervantes S, Barabash A, Alonso A, Cabranes JA, Lamet I, Ancín I, Lorenzo E, Martínez-Lage P, Marcos A, Clarimón J, Alcolea D, Lleó A, Blesa R, Gómez-Isla T, Pastor P. Samaranch L, et al. Among authors: pastor p. J Alzheimers Dis. 2010;22(4):1065-71. doi: 10.3233/JAD-2010-101011. J Alzheimers Dis. 2010. PMID: 20930301
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Among authors: pastor p. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
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
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.
Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A; Ibero-American Alzheimer Disease Genetics Group Researchers; Cruchaga C. Jin SC, et al. Among authors: pastor p. Alzheimers Res Ther. 2012 Aug 20;4(4):34. doi: 10.1186/alzrt137. Alzheimers Res Ther. 2012. PMID: 22906081 Free PMC article.
413 results