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Page 1
Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.
Del Valle-Peréz M, Mejía-García A, Echeverri-López D, Gallo-Bonilla K, Tejada-Moreno JA, Villegas-Lanau A, Chvatal-Medina M, Restrepo JE, Cuartas-Montoya G, Zapata-Builes W. Del Valle-Peréz M, et al. Among authors: villegas lanau a. J Appl Genet. 2024 Aug 16. doi: 10.1007/s13353-024-00896-7. Online ahead of print. J Appl Genet. 2024. PMID: 39150614
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. Among authors: villegas lanau a. 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.
Advancements in dementia research, diagnostics, and care in Latin America: Highlights from the 2023 Alzheimer's Association International conference satellite symposium in Mexico City.
Sosa AL, Brucki SM, Crivelli L, Lopera FJ, Acosta DM, Acosta-Uribe J, Aguilar D, Aguilar-Navarro SG, Allegri RF, Bertolucci PH, Calandri IL, Carrillo MC, Mendez PAC, Cornejo-Olivas M, Custodio N, Damian A, de Souza LC, Duran-Aniotz C, García AM, García-Peña C, Gonzales MM, Grinberg LT, Ibanez AM, Illanes-Manrique MZ, Jack CR Jr, Leon-Salas JM, Llibre-Guerra JJ, Luna-Muñoz J, Matallana D, Miller BL, Naci L, Parra MA, Pericak-Vance M, Piña-Escudero SD, França Resende EP, Ringman JM, Sevlever G, Slachevsky A, Suemoto CK, Valcour V, Villegas-Lanau A, Yassuda MS, Mahinrad S, Sexton C. Sosa AL, et al. Among authors: villegas lanau a. Alzheimers Dement. 2024 Jul;20(7):5009-5026. doi: 10.1002/alz.13850. Epub 2024 May 27. Alzheimers Dement. 2024. PMID: 38801124 Free PMC article. Review.
Signatures for viral infection and inflammation in the proximal olfactory system in familial Alzheimer's disease.
Bubak AN, Merle L, Niemeyer CS, Baxter BD, Gentile Polese A, Ramakrishnan V, Gomez J, Madrigal L, Villegas-Lanau A, Lopera F, Macklin W, Frietze S, Nagel MA, Restrepo D. Bubak AN, et al. Among authors: villegas lanau a. Neurobiol Aging. 2023 Mar;123:75-82. doi: 10.1016/j.neurobiolaging.2022.12.004. Epub 2022 Dec 13. Neurobiol Aging. 2023. PMID: 36638683 Free PMC article.
Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.
Tejada Moreno JA, Villegas Lanau A, Madrigal Zapata L, Baena Pineda AY, Velez Hernandez J, Campo Nieto O, Soto Ospina A, Araque Marín P, Rishishwar L, Norris ET, Chande AT, Jordan IK, Bedoya Berrio G. Tejada Moreno JA, et al. Among authors: villegas lanau a. PLoS One. 2022 Jul 29;17(7):e0269955. doi: 10.1371/journal.pone.0269955. eCollection 2022. PLoS One. 2022. PMID: 35905044 Free PMC article.
Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics-Molecular Mechanics Framework.
López-Rivera JJ, Rodríguez-Salazar L, Soto-Ospina A, Estrada-Serrato C, Serrano D, Chaparro-Solano HM, Londoño O, Rueda PA, Ardila G, Villegas-Lanau A, Godoy-Corredor M, Cuartas M, Vélez JI, Vidal OM, Isaza-Ruget MA, Arcos-Burgos M. López-Rivera JJ, et al. Among authors: villegas lanau a. Brain Sci. 2022 Jun 30;12(7):871. doi: 10.3390/brainsci12070871. Brain Sci. 2022. PMID: 35884678 Free PMC article.
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J, Aguillón D, Cochran JN, Giraldo M, Madrigal L, Killingsworth BW, Singhal R, Labib S, Alzate D, Velilla L, Moreno S, García GP, Saldarriaga A, Piedrahita F, Hincapié L, López HE, Perumal N, Morelo L, Vallejo D, Solano JM, Reiman EM, Surace EI, Itzcovich T, Allegri R, Sánchez-Valle R, Villegas-Lanau A, White CL 3rd, Matallana D, Myers RM, Browning SR, Lopera F, Kosik KS. Acosta-Uribe J, et al. Among authors: villegas lanau a. Genome Med. 2022 Mar 8;14(1):27. doi: 10.1186/s13073-022-01035-9. Genome Med. 2022. PMID: 35260199 Free PMC article.
15 results