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
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
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
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
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
O'Connor A et al.
Brain : a Journal of Neurology, 2021
Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer's Disease.
Li YS et al.
Aging and Disease, 2019
Quantifying correlations between mutational sites in the catalytic subunit of γ-secretase.
Chávez-García C et al.
Journal of Molecular Graphics & Modelling, 2019
Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.
Weston PSJ et al.
Alzheimer's Research & Therapy, 2019
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM et al.
Alzheimer's Research & Therapy, 2018
Identification of missing variants by combining multiple analytic pipelines.
Ren Y et al.
Bmc Bioinformatics, 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
Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration.
Weston PSJ et al.
Neurology, 2017
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
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
Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing.
Piccoli E et al.
Neurobiology of Aging, 2016
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
Lohmann E et al.
Neurobiology of Aging, 2012
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Guerreiro RJ et al.
Neurobiology of Aging, 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
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
Raux G et al.
Journal of Medical Genetics, 2005
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA et al.
Alzheimer Disease and Associated Disorders, 0