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Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.
Arboleda-Velasquez JF, Lopera F, O'Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzmán-Vélez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM, Quiroz YT. Arboleda-Velasquez JF, et al. Nat Med. 2019 Nov;25(11):1680-1683. doi: 10.1038/s41591-019-0611-3. Epub 2019 Nov 4. Nat Med. 2019. PMID: 31686034 Free PMC article.
APOE3 Christchurch modulates β-catenin/Wnt signaling in iPS cell-derived cerebral organoids from Alzheimer's cases.
Perez-Corredor P, Vanderleest TE, Vacano GN, Sanchez JS, Villalba-Moreno ND, Marino C, Krasemann S, Mendivil-Perez MA, Aguillón D, Jiménez-Del-Río M, Baena A, Sepulveda-Falla D, Lopera F, Quiroz YT, Arboleda-Velasquez JF, Mazzarino RC. Perez-Corredor P, et al. Front Mol Neurosci. 2024 Mar 20;17:1373568. doi: 10.3389/fnmol.2024.1373568. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38571814 Free PMC article.
Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.
Acosta-Uribe J, Villegas-Lanau A, Vallejo D, Ramírez-Aguilar L, Solano JM, Mejía-Cupajita B, Aguillón D, Moreno S, Méndez LG, Baena A, Madrigal L, Bocanegra Y, Quiroz YT, García GP, Vasquez D, Arbeláez A, Lopera F, Beach TG, Kosik KS, White CL 3rd, Giraldo-Chica M. Acosta-Uribe J, et al. Alzheimers Dement. 2024 Sep;20(9):6384-6394. doi: 10.1002/alz.14133. Epub 2024 Jul 27. Alzheimers Dement. 2024. PMID: 39072908 Free PMC article.