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Human Mutation|January 1, 1997
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE allelesC L Lendon, A Martinez, I M Behrens, et al.
Neurology|June 13, 2001
Presenilin-1-associated abnormalities in regional cerebral perfusionK A Johnson, F Lopera, K Jones, et al.
JAMA|March 12, 1997
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutationF Lopera, A Ardilla, A Martínez, et al.
Nature Medicine|October 1, 1996
The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathologyC A Lemere, F Lopera, K S Kosik, et al.
Neurology|July 24, 2002
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of strokeJ F Arboleda-Velasquez, F Lopera, E Lopez, et al.
Biorxiv : the Preprint Server for Biology|December 15, 2025
Upregulation of MAM by C99 disrupts ACSL4 activity and phospholipid homeostasis in Alzheimer's disease modelsJ Montesinos, T D Yun, I D Salomón-Cruz, et al.
The Journal of Prevention of Alzheimer'S Disease|February 14, 2019
Biological and Cognitive Markers of Presenilin1 E280A Autosomal Dominant Alzheimer's Disease: A Comprehensive Review of the Colombian KindredJ T Fuller, A Cronin-Golomb, J R Gatchel, et al.
Molecular Psychiatry|September 2, 2015
Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's diseaseM A Lalli, B M Bettcher, M L Arcila, et al.
Revista De Neurologia|June 11, 1999
[A system of multidimensional behavior assessment. A scale for parents of children from 6 to 11 years of age. Colombian version]D A Pineda, R W Kamphaus, O Mora, et al.
Molecular Psychiatry|December 2, 2015
APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's diseaseJ I Vélez, F Lopera, D Sepulveda-Falla, et al.
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