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
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.
Nan H et al.
Alzheimer's Research & Therapy, 2025
A Novel Presenilin-1 Mutation (Leu226Val) In Early Onset Alzheimer's Disease With Parkinsonism.
Zilioli A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.
Novotny BC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Qin Q et al.
Molecular Genetics & Genomic Medicine, 2020
Gene mutations in a Han Chinese Alzheimer's disease cohort.
Ma L et al.
Brain and Behavior, 2019
Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.
Jiang S et al.
Translational Psychiatry, 2018
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM et al.
Alzheimer's Research & Therapy, 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
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Increased in vivo amyloid-β42 production, exchange, and loss in presenilin mutation carriers.
Potter R et al.
Science Translational Medicine, 2013
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E et al.
Journal of Alzheimer's Disease : Jad, 2010
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment.
Zekanowski C et al.
Experimental Neurology, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5.
Coleman P et al.
Neuroscience Letters, 2004