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
An internal docking site stabilizes substrate binding to γ-secretase: Analysis by molecular dynamics simulations.
Chen SY et al.
Biophysical Journal, 2022
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
A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling.
Zhang S et al.
Molecular Psychiatry, 2020
Regional patterns of 18F-florbetaben uptake in presenilin 1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2019
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.
Van Giau V et al.
Bmc Neurology, 2019
Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.
Wang C et al.
Cell Reports, 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
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.
Carmona-Iragui M et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017
White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant Alzheimer's Disease.
Sánchez-Valle R et al.
Journal of Alzheimer's Disease : Jad, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.
Zhang S et al.
Neuroscience and Biobehavioral Reviews, 2015
Text mining facilitates database curation - extraction of mutation-disease associations from Bio-medical literature.
Ravikumar KE et al.
Bmc Bioinformatics, 2015
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease.
Guo J et al.
Neuroscience Letters, 2010
Identification of gamma-secretase inhibitor potency determinants on presenilin.
Zhao B et al.
The Journal of Biological Chemistry, 2008
Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene.
Golan MP et al.
Experimental Neurology, 2007
The genetics of very early onset Alzheimer disease.
Filley CM et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2007
Linear patterns of Alzheimer's disease mutations along alpha-helices of presenilins as a tool for PS-1 model construction.
Jozwiak K et al.
Journal of Neurochemistry, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related to epilepsy.
Velez-Pardo C et al.
Epilepsia, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures.
Takao M et al.
Journal of Neuropathology and Experimental Neurology, 2001
Presenilin structure, function and role in Alzheimer disease.
Fraser PE et al.
Biochimica Et Biophysica Acta, 2000
A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.
Ezquerra M et al.
Neurology, 1999