Associated Papers
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.
Selig M et al.
Febs Open Bio, 2025
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Selective association of EEG microstates with clinical symptoms and mutation status in monogenic Alzheimer disease.
Johansson C et al.
Neuroimage. Clinical, 2025
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Odor Identification Across Time in Mutation Carriers and Non-Carriers in Autosomal-Dominant Alzheimer's Disease.
Almkvist O et al.
Journal of Alzheimer's Disease : Jad, 2024
Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits.
Küçükali F et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
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
Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.
Senanarong V et al.
Diagnostics (basel, Switzerland), 2020
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.
Park J et al.
Neurobiology of Aging, 2017
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort.
Eryilmaz IE et al.
Alzheimer Disease and Associated Disorders, 0