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Page 1
Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.
Lopera F, Marino C, Chandrahas AS, O'Hare M, Villalba-Moreno ND, Aguillon D, Baena A, Sanchez JS, Vila-Castelar C, Ramirez Gomez L, Chmielewska N, Oliveira GM, Littau JL, Hartmann K, Park K, Krasemann S, Glatzel M, Schoemaker D, Gonzalez-Buendia L, Delgado-Tirado S, Arevalo-Alquichire S, Saez-Torres KL, Amarnani D, Kim LA, Mazzarino RC, Gordon H, Bocanegra Y, Villegas A, Gai X, Bootwalla M, Ji J, Shen L, Kosik KS, Su Y, Chen Y, Schultz A, Sperling RA, Johnson K, Reiman EM, Sepulveda-Falla D, Arboleda-Velasquez JF, Quiroz YT. Lopera F, et al. Among authors: kosik ks. Nat Med. 2023 May;29(5):1243-1252. doi: 10.1038/s41591-023-02318-3. Epub 2023 May 15. Nat Med. 2023. PMID: 37188781 Free PMC article.
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
Gómez-Isla T, Growdon WB, McNamara MJ, Nochlin D, Bird TD, Arango JC, Lopera F, Kosik KS, Lantos PL, Cairns NJ, Hyman BT. Gómez-Isla T, et al. Among authors: kosik ks. Brain. 1999 Sep;122 ( Pt 9):1709-19. doi: 10.1093/brain/122.9.1709. Brain. 1999. PMID: 10468510
Presenilin-1-associated abnormalities in regional cerebral perfusion.
Johnson KA, Lopera F, Jones K, Becker A, Sperling R, Hilson J, Londono J, Siegert I, Arcos M, Moreno S, Madrigal L, Ossa J, Pineda N, Ardila A, Roselli M, Albert MS, Kosik KS, Rios A. Johnson KA, et al. Among authors: kosik ks. Neurology. 2001 Jun 12;56(11):1545-51. doi: 10.1212/wnl.56.11.1545. Neurology. 2001. PMID: 11402113
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE, Vargas S, Medina M, Martinez De Arrieta C, Lebo RV, Slaugenhaupt SA, Betensky RA, Villegas A, Arcos-Burgos M, Rivera D, Restrepo JC, Kosik KS. Arboleda-Velasquez JF, et al. Among authors: kosik ks. Neurology. 2002 Jul 23;59(2):277-9. doi: 10.1212/wnl.59.2.277. Neurology. 2002. PMID: 12136071
CADASIL mutations impair Notch3 glycosylation by Fringe.
Arboleda-Velasquez JF, Rampal R, Fung E, Darland DC, Liu M, Martinez MC, Donahue CP, Navarro-Gonzalez MF, Libby P, D'Amore PA, Aikawa M, Haltiwanger RS, Kosik KS. Arboleda-Velasquez JF, et al. Among authors: kosik ks. Hum Mol Genet. 2005 Jun 15;14(12):1631-9. doi: 10.1093/hmg/ddi171. Epub 2005 Apr 27. Hum Mol Genet. 2005. PMID: 15857853
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: kosik ks. 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.
326 results