Associated Papers
A novel presenilin 1 nucleotide mutation (M139I) and its pathological function in a Chinese family with early-onset Alzheimer's disease.
Li X et al.
Journal of Alzheimer's Disease : Jad, 2026
Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.
Xia Y et al.
Neurology and Therapy, 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
Presenilin 1 M139I mutation regulates the microRNA-34a-mediated neurogenic locus notch homolog protein 1 signaling pathway in an early-onset Alzheimer disease cell model.
Sun X et al.
Journal of Neuropathology and Experimental Neurology, 2025
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Advances in Genetics and Epigenetic Alterations in Alzheimer's Disease: A Notion for Therapeutic Treatment.
Rabaneda-Bueno R et al.
Genes, 2021
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Blauwendraat C et al.
Neurobiology of Aging, 2019
Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing.
Jiang B et al.
Neurobiology of Aging, 2019
A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio.
Qiu Q et al.
Journal of Alzheimer's Disease : Jad, 2019
Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.
Giau VV et al.
Neurobiology of Aging, 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
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.
An SS et al.
Clinical Interventions in Aging, 2016
Rapidly progressive Alzheimer's disease features distinct structures of amyloid-β.
Cohen ML et al.
Brain : a Journal of Neurology, 2015
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
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 2011
Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification.
Kim HJ et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2010
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Amino- and carboxyl-terminal mutants of presenilin 1 cause neuronal cell death through distinct toxic mechanisms: Study of 27 different presenilin 1 mutants.
Hashimoto Y et al.
Journal of Neuroscience Research, 2004
Alzheimer's disease. Molecular consequences of presenilin-1 mutation.
Gandy S et al.
Nature, 2001
Brain expression of presenilins in sporadic and early-onset, familial Alzheimer's disease.
Mathews PM et al.
Molecular Medicine (cambridge, Mass.), 2000
Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis.
Zhang Z et al.
Nature, 1998
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0