Associated Papers
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Research Square, 2025
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Case of early onset Alzheimer's disease associated with a novel PSEN1 variant identified in Colombia.
Zapata-Restrepo LM et al.
Npj Dementia, 2025
Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations.
Villegas-Llerena C et al.
Frontiers in Neuroscience, 2025
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.
Kakuda N et al.
Translational Psychiatry, 2021
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.
Tortelli R et al.
International Journal of Molecular Sciences, 2021
Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.
Quan M et al.
Alzheimer's Research & Therapy, 2020
PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.
Jia L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
Regional patterns of 18F-florbetaben uptake in presenilin 1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2019
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.
Van Giau V et al.
Bmc Neurology, 2019
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Park JS et al.
Nature Communications, 2019
Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.
Shulskaya MV et al.
Frontiers in Aging Neuroscience, 2018
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.
Carmona-Iragui M et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Evolving brain structural changes in PSEN1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2015
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.
Jin SC et al.
Alzheimer's Research & Therapy, 2012
Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation.
Kasuga K et al.
Journal of Neurology, 2009
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA et al.
Alzheimer Disease and Associated Disorders, 0