Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf
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
A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.
Yang Y et al.
International Journal of Molecular Sciences, 2024
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Biorxiv : the Preprint Server for Biology, 2024
Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations.
Dehury B et al.
Journal of Biomolecular Structure & Dynamics, 2020
Identification of missing variants by combining multiple analytic pipelines.
Ren Y et al.
Bmc Bioinformatics, 2018
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Blauwendraat C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
Blauwendraat C et al.
Neurobiology of Aging, 2016
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