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
PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.
Llibre-Guerra JJ et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing.
Jiang B et al.
Neurobiology of Aging, 2019
Genetic screen in a large series of patients with primary progressive aphasia.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
Wang JC et al.
Neurobiology of Aging, 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
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.
Denvir J et al.
Journal of Alzheimer's Disease : Jad, 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.
Testi S et al.
Journal of Alzheimer's Disease : Jad, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study.
Larner AJ et al.
European Journal of Neurology, 2003
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
Campion D et al.
American Journal of Human Genetics, 1999