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
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
Orchestration of Genetic Alterations in PSEN1 and PSEN2 Genes in Development of Alzheimer's Disease through Computational Analysis.
Mir A et al.
Global Medical Genetics, 2024
Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.
Moreno-Gázquez I et al.
Bmc Research Notes, 2023
Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.
Wightman DP et al.
Scientific Reports, 2023
A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer's Disease.
Shim KH et al.
International Journal of Molecular Sciences, 2022
PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort.
Dong L et al.
Journal of Alzheimer's Disease : Jad, 2022
A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.
Guven G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.
Mao C et al.
Current Alzheimer Research, 2021
Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.
Kabir MT et al.
Neurotoxicity Research, 2020
Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Perrone F et al.
Alzheimer's Research & Therapy, 2020
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Nicolas G et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2018
TREM2 - a key player in microglial biology and Alzheimer disease.
Ulland TK et al.
Nature Reviews. Neurology, 2018
Identification of missing variants by combining multiple analytic pipelines.
Ren Y et al.
Bmc Bioinformatics, 2018
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Ibanez L et al.
Frontiers in Neuroscience, 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
A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer's dementia supported by structure prediction.
Park KW et al.
Clinical Interventions in Aging, 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
On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients.
Sala Frigerio C et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2015
Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease.
Mehrjoo Z et al.
Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 2015
Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.
Cai Y et al.
Clinical Interventions in Aging, 2015
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Sassi C et al.
Neurobiology of Aging, 2014
TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.
Pottier C et al.
Journal of Alzheimer's Disease : Jad, 2013
Adenovirus type 5 early region 1B 55-kDa oncoprotein can promote cell transformation by a mechanism independent from blocking p53-activated transcription.
Härtl B et al.
Oncogene, 2008
Plasma amyloid beta protein is elevated in late-onset Alzheimer disease families.
Ertekin-Taner N et al.
Neurology, 2008
Molecular genetics of Alzheimer's disease: an update.
Brouwers N et al.
Annals of Medicine, 2008