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Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
Aguillon D, Vasquez D, Madrigal L, Moreno S, Hernández D, Isaza-Ruget M, Lopez JJ, Landires I, Nuñez-Samudio V, Restrepo CM, Vidal OM, Vélez JI, Arcos-Holzinger M, Lopera F, Arcos-Burgos M. Aguillon D, et al. Among authors: madrigal l. Mol Neurobiol. 2022 Jun;59(6):3845-3858. doi: 10.1007/s12035-022-02821-7. Epub 2022 Apr 14. Mol Neurobiol. 2022. PMID: 35420381
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: madrigal l. 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: madrigal l. 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.
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: madrigal l. 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.
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: madrigal l. 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.
103 results