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Page 1
Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.
Lee SE, Tartaglia MC, Yener G, Genç S, Seeley WW, Sanchez-Juan P, Moreno F, Mendez MF, Klein E, Rademakers R, López de Munain A, Combarros O, Kramer JH, Kenet RO, Boxer AL, Geschwind MD, Gorno-Tempini ML, Karydas AM, Rabinovici GD, Coppola G, Geschwind DH, Miller BL. Lee SE, et al. Among authors: combarros o. Alzheimer Dis Assoc Disord. 2013 Oct-Dec;27(4):302-9. doi: 10.1097/WAD.0b013e31828cc357. Alzheimer Dis Assoc Disord. 2013. PMID: 23518664 Free PMC article.
MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium.
Pastor P, Moreno F, Clarimón J, Ruiz A, Combarros O, Calero M, López de Munain A, Bullido MJ, de Pancorbo MM, Carro E, Antonell A, Coto E, Ortega-Cubero S, Hernandez I, Tárraga L, Boada M, Lleó A, Dols-Icardo O, Kulisevsky J, Vázquez-Higuera JL, Infante J, Rábano A, Fernández-Blázquez MÁ, Valentí M, Indakoetxea B, Barandiarán M, Gorostidi A, Frank-García A, Sastre I, Lorenzo E, Pastor MA, Elcoroaristizabal X, Lennarz M, Maier W, Rámirez A, Serrano-Ríos M, Lee SE, Sánchez-Juan P; Dementia Genetic Spanish Consortium (DEGESCO). Pastor P, et al. Among authors: combarros o. J Alzheimers Dis. 2016;49(2):343-52. doi: 10.3233/JAD-150555. J Alzheimers Dis. 2016. PMID: 26444794 Free article.
Age-dependent association of KIBRA genetic variation and Alzheimer's disease risk.
Rodríguez-Rodríguez E, Infante J, Llorca J, Mateo I, Sánchez-Quintana C, García-Gorostiaga I, Sánchez-Juan P, Berciano J, Combarros O. Rodríguez-Rodríguez E, et al. Among authors: combarros o. Neurobiol Aging. 2009 Feb;30(2):322-4. doi: 10.1016/j.neurobiolaging.2007.07.003. Epub 2007 Aug 17. Neurobiol Aging. 2009. PMID: 17707552
14-3-3 zeta and tau genes interactively decrease Alzheimer's disease risk.
Mateo I, Sánchez-Juan P, Rodríguez-Rodríguez E, Infante J, Fernández-Viadero C, Peña N, Berciano J, Combarros O. Mateo I, et al. Among authors: combarros o. Dement Geriatr Cogn Disord. 2008;25(4):317-20. doi: 10.1159/000119123. Epub 2008 Mar 4. Dement Geriatr Cogn Disord. 2008. PMID: 18319590
Genetic variation in the tau kinases pathway may modify the risk and age at onset of Alzheimer's disease.
Vázquez-Higuera JL, Mateo I, Sánchez-Juan P, Rodríguez-Rodríguez E, Pozueta A, Calero M, Dobato JL, Frank-García A, Valdivieso F, Berciano J, Bullido MJ, Combarros O. Vázquez-Higuera JL, et al. Among authors: combarros o. J Alzheimers Dis. 2011;27(2):291-7. doi: 10.3233/JAD-2011-110794. J Alzheimers Dis. 2011. PMID: 21811019 Free article. Clinical Trial.
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: combarros o. 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.
A novel Alzheimer disease locus located near the gene encoding tau protein.
Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH Jr, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L; IGAP Consortium; Haines JL, Psaty BM, Van … See abstract for full author list ➔ Jun G, et al. Mol Psychiatry. 2016 Jan;21(1):108-17. doi: 10.1038/mp.2015.23. Epub 2015 Mar 17. Mol Psychiatry. 2016. PMID: 25778476 Free PMC article.
Assessing the role of TUBA4A gene in frontotemporal degeneration.
Dols-Icardo O, Iborra O, Valdivia J, Pastor P, Ruiz A, López de Munain A, Sánchez-Valle R, Álvarez V, Sánchez-Juan P, Lleó A, Fortea J, Blesa R, Cardona F, Baquero M, Alonso MD, Ortega-Cubero S, Pastor MA, Razquin C, Boada M, Hernández I, Gorostidi A, Moreno F, Zulaika M, Lladó A, Coto E, Combarros O, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO). Dols-Icardo O, et al. Among authors: combarros o. Neurobiol Aging. 2016 Feb;38:215.e13-215.e14. doi: 10.1016/j.neurobiolaging.2015.10.030. Epub 2015 Nov 5. Neurobiol Aging. 2016. PMID: 26675813 Free article.
Association of genetic variants of ABCA1 with Alzheimer's disease risk.
Rodríguez-Rodríguez E, Mateo I, Llorca J, Sánchez-Quintana C, Infante J, García-Gorostiaga I, Sánchez-Juan P, Berciano J, Combarros O. Rodríguez-Rodríguez E, et al. Among authors: combarros o. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):964-8. doi: 10.1002/ajmg.b.30552. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17510946
212 results