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Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease.
Lalli MA, Bettcher BM, Arcila ML, Garcia G, Guzman C, Madrigal L, Ramirez L, Acosta-Uribe J, Baena A, Wojta KJ, Coppola G, Fitch R, de Both MD, Huentelman MJ, Reiman EM, Brunkow ME, Glusman G, Roach JC, Kao AW, Lopera F, Kosik KS. Lalli MA, et al. Among authors: garcia g. Mol Psychiatry. 2015 Nov;20(11):1294-300. doi: 10.1038/mp.2015.131. Epub 2015 Sep 1. Mol Psychiatry. 2015. PMID: 26324103 Free PMC article.
Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.
Vélez JI, Chandrasekharappa SC, Henao E, Martinez AF, Harper U, Jones M, Solomon BD, Lopez L, Garcia G, Aguirre-Acevedo DC, Acosta-Baena N, Correa JC, Lopera-Gómez CM, Jaramillo-Elorza MC, Rivera D, Kosik KS, Schork NJ, Swanson JM, Lopera F, Arcos-Burgos M. Vélez JI, et al. Among authors: garcia g. Mol Psychiatry. 2013 May;18(5):568-75. doi: 10.1038/mp.2012.81. Epub 2012 Jun 19. Mol Psychiatry. 2013. PMID: 22710270 Free PMC article.
Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study.
Fleisher AS, Chen K, Quiroz YT, Jakimovich LJ, Gomez MG, Langois CM, Langbaum JB, Ayutyanont N, Roontiva A, Thiyyagura P, Lee W, Mo H, Lopez L, Moreno S, Acosta-Baena N, Giraldo M, Garcia G, Reiman RA, Huentelman MJ, Kosik KS, Tariot PN, Lopera F, Reiman EM. Fleisher AS, et al. Among authors: garcia g. Lancet Neurol. 2012 Dec;11(12):1057-65. doi: 10.1016/S1474-4422(12)70227-2. Epub 2012 Nov 6. Lancet Neurol. 2012. PMID: 23137949 Free PMC article.
Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.
Lalli MA, Cox HC, Arcila ML, Cadavid L, Moreno S, Garcia G, Madrigal L, Reiman EM, Arcos-Burgos M, Bedoya G, Brunkow ME, Glusman G, Roach JC, Hood L, Kosik KS, Lopera F. Lalli MA, et al. Among authors: garcia g. Alzheimers Dement. 2014 Oct;10(5 Suppl):S277-S283.e10. doi: 10.1016/j.jalz.2013.09.005. Epub 2013 Nov 13. Alzheimers Dement. 2014. PMID: 24239249 Free PMC article.
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
Kosik KS, Muñoz C, Lopez L, Arcila ML, García G, Madrigal L, Moreno S, Ríos Romenets S, Lopez H, Gutierrez M, Langbaum JB, Cho W, Suliman S, Tariot PN, Ho C, Reiman EM, Lopera F. Kosik KS, et al. Among authors: garcia g. Neurology. 2015 Jan 13;84(2):206-8. doi: 10.1212/WNL.0000000000001130. Epub 2014 Dec 3. Neurology. 2015. PMID: 25471389 Free PMC article. No abstract available.
Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disease kindred: a cross-sectional study.
Fleisher AS, Chen K, Quiroz YT, Jakimovich LJ, Gutierrez Gomez M, Langois CM, Langbaum JB, Roontiva A, Thiyyagura P, Lee W, Ayutyanont N, Lopez L, Moreno S, Muñoz C, Tirado V, Acosta-Baena N, Fagan AM, Giraldo M, Garcia G, Huentelman MJ, Tariot PN, Lopera F, Reiman EM. Fleisher AS, et al. Among authors: garcia g. JAMA Neurol. 2015 Mar;72(3):316-24. doi: 10.1001/jamaneurol.2014.3314. JAMA Neurol. 2015. PMID: 25580592 Free PMC article.
Brain Imaging and Blood Biomarker Abnormalities in Children With Autosomal Dominant Alzheimer Disease: A Cross-Sectional Study.
Quiroz YT, Schultz AP, Chen K, Protas HD, Brickhouse M, Fleisher AS, Langbaum JB, Thiyyagura P, Fagan AM, Shah AR, Muniz M, Arboleda-Velasquez JF, Munoz C, Garcia G, Acosta-Baena N, Giraldo M, Tirado V, Ramírez DL, Tariot PN, Dickerson BC, Sperling RA, Lopera F, Reiman EM. Quiroz YT, et al. Among authors: garcia g. JAMA Neurol. 2015 Aug;72(8):912-9. doi: 10.1001/jamaneurol.2015.1099. JAMA Neurol. 2015. PMID: 26121081 Free PMC article.
Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr).
Ramirez Aguilar L, Acosta-Uribe J, Giraldo MM, Moreno S, Baena A, Alzate D, Cuastumal R, Aguillón D, Madrigal L, Saldarriaga A, Navarro A, Garcia GP, Aguirre-Acevedo DC, Geier EG, Cochran JN, Quiroz YT, Myers RM, Yokoyama JS, Kosik KS, Lopera F. Ramirez Aguilar L, et al. Among authors: garcia gp. Alzheimers Dement. 2019 May;15(5):709-719. doi: 10.1016/j.jalz.2018.12.010. Epub 2019 Feb 10. Alzheimers Dement. 2019. PMID: 30745123 Free PMC article.
2,901 results