Associated Papers
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 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
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
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health 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
Computational analysis of missense variant CYP4F2*3 (V433M) in association with human CYP4F2 dysfunction: a functional and structural impact.
Farajzadeh-Dehkordi M et al.
Bmc Molecular and Cell Biology, 2023
Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.
Wightman DP et al.
Scientific Reports, 2023
Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.
Bruno F et al.
Biomedicines, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations.
Dehury B et al.
Journal of Biomolecular Structure & Dynamics, 2020
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing.
Jiang B et al.
Neurobiology of Aging, 2019
Genetic Study of Alzheimer's Disease in Saudi Population.
El Bitar F et al.
Journal of Alzheimer's Disease : Jad, 2019
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and Biology, 2019
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.
Jayadev S et al.
Brain : a Journal of Neurology, 2010
Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.
Bernardi L et al.
Journal of Neurology, 2008
Genetic Variants Associated With Alzheimer Disease in the 22 Arab Countries: A Systematic Review.
Al-Thani HF et al.
Alzheimer Disease and Associated Disorders, 0