The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology CA Lemere, F LoPERA, KS Kosik, CL Lendon, J OssA, TC Saido, ... Nature medicine 2 (10), 1146-1150, 1996 | 661 | 1996 |
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation F Lopera, A Ardilla, A Martínez, L Madrigal, JC Arango-Viana, CA Lemere, ... Jama 277 (10), 793-799, 1997 | 451 | 1997 |
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families RF Clark, M Hutton, M Fuldner, S Froelich, E Karran, C Talbot, R Crook, ... Nature genetics 11 (2), 219-222, 1995 | 219 | 1995 |
E280A PS‐1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles CL Lendon, A Martinez, IM Behrens, KS Kosik, L Madrigal, J Norton, ... Human mutation 10 (3), 186-195, 1997 | 116 | 1997 |
Presenilin-1–associated abnormalities in regional cerebral perfusion KA Johnson, F Lopera, K Jones, A Becker, R Sperling, J Hilson, ... Neurology 56 (11), 1545-1551, 2001 | 100 | 2001 |
The Alzheimer's prevention initiative composite cognitive test score: sample size estimates for the evaluation of preclinical Alzheimer's disease treatments in presenilin 1 … N Ayutyanont, JBS Langbaum, SB Hendrix, K Chen, AS Fleisher, ... The Journal of clinical psychiatry 75 (6), 727, 2014 | 99 | 2014 |
Neuropsychological profile of a large kindred with familial Alzheimer's disease caused by the E280A single presenilin-1 mutation A Ardila, F Lopera, M Rosselli, S Moreno, L Madrigal, JC Arango-Lasprilla, ... Archives of Clinical Neuropsychology 15 (6), 515-528, 2000 | 72 | 2000 |
Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease MA Lalli, BM Bettcher, ML Arcila, G Garcia, C Guzman, L Madrigal, ... Molecular psychiatry 20 (11), 1294-1300, 2015 | 68 | 2015 |
Origin of the PSEN1 E280A mutation causing early‐onset Alzheimer's disease MA Lalli, HC Cox, ML Arcila, L Cadavid, S Moreno, G Garcia, L Madrigal, ... Alzheimer's & Dementia 10, S277-S283. e10, 2014 | 68 | 2014 |
Demencia tipo Alzheimer con agregación familiar enAntioquia, Colombia F Lopera, M Arcos, L Madrigal, K Kosik, W Cornejo, J Ossa Acta Neurol Colomb 10 (4), 1994 | 55 | 1994 |
Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr) LR Aguilar, J Acosta-Uribe, MM Giraldo, S Moreno, A Baena, D Alzate, ... Alzheimer's & Dementia 15 (5), 709-719, 2019 | 34 | 2019 |
Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: type III Cockayne syndrome S Baez, B Couto, E Herrera, Y Bocanegra, N Trujillo-Orrego, ... Frontiers in aging neuroscience 5, 80, 2013 | 32 | 2013 |
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation KS Kosik, C Muñoz, L Lopez, ML Arcila, G García, L Madrigal, S Moreno, ... Neurology 84 (2), 206-208, 2015 | 31 | 2015 |
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects J Acosta-Uribe, D Aguillón, JN Cochran, M Giraldo, L Madrigal, ... Genome Medicine 14 (1), 27, 2022 | 23 | 2022 |
The Colombian Alzheimer's Prevention Initiative (API) Registry S Rios‐Romenets, H Lopez, L Lopez, L Hincapie, A Saldarriaga, ... Alzheimer's & Dementia 13 (5), 602-605, 2017 | 22 | 2017 |
Exploratory data from complete genomes of familial alzheimer disease age‐at‐onset outliers MA Lalli, G Garcia, L Madrigal, M Arcos‐Burgos, ML Arcila, KS Kosik, ... Human mutation 33 (12), 1630-1634, 2012 | 20 | 2012 |
“In the flesh”: Narratives of family caregivers at risk of early-onset familial Alzheimer’s disease M García-Toro, MC Sánchez-Gómez, L Madrigal Zapata, FJ Lopera Dementia 19 (5), 1474-1491, 2020 | 18 | 2020 |
Hacia el enunciado de dilemas éticos sobre la enfermedad de Alzheimer precoz, en Antioquia, Colombia A García, F Lopera, L Madrigal, J Ossa Iatreia 16 (2), 174-182, 2003 | 18 | 2003 |
Space–time suicide clustering in the community of Antequera (Spain) L Pérez-Costillas, H Blasco-Fontecilla, N Benítez, R Comino, JM Antón, ... Revista de Psiquiatría y Salud Mental (English Edition) 8 (1), 26-34, 2015 | 14 | 2015 |
Clusters de casos de suicidio espacio-temporal en la comunidad de Antequera (Espana) L Pérez-Costillas, H Blasco-Fontecilla, N Benítez, R Comino, JM Antón, ... Revista de Psiquiatría y Salud mental 8 (1), 26-34, 2015 | 14 | 2015 |