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
Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.
Marsh JA et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025
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
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Nicolas G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case.
Wężyk M et al.
International Journal of Molecular Sciences, 2023
Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.
Wezyk M et al.
Journal of Alzheimer's Disease : Jad, 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
The Emerging Roles of Early Protein Folding Events in the Secretory Pathway in the Development of Neurodegenerative Maladies.
Dubnikov T et al.
Frontiers in Neuroscience, 2017
Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.
Ringman JM et al.
Journal of Neuropathology and Experimental Neurology, 2016
From mutated genes to familial Alzheimer's disease.
Ben-Gedalya T et al.
Cell Cycle (georgetown, Tex.), 2016
Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.
Ben-Gedalya T et al.
The Embo Journal, 2015
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.
Jiménez Caballero PE et al.
European Journal of Neurology, 2008
Genetic study of familial cases of Alzheimer's disease.
Kowalska A et al.
Acta Biochimica Polonica, 2004
Presenilin 1 mutations in Polish families with early-onset Alzheimer's disease.
Kowalska A et al.
Folia Neuropathologica, 2004
Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region.
Kowalska A et al.
Journal of Applied Genetics, 2003