Associated Papers
Novel Association of the Presenilin-1 (Leu282Arg) Mutation with Isolated Spastic Paraparesis: Case Presentation and Review of Current Evidence.
De la Sen-Domínguez M et al.
Journal of Clinical Medicine, 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
Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis.
Jih KY et al.
Alzheimer's Research & Therapy, 2025
Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies.
Pomeshchik Y et al.
Stem Cell Reports, 2023
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2021
Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies.
Pomeshchik Y et al.
Stem Cell Reports, 2020
Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation.
Santos-Mandujano RA et al.
Journal of Alzheimer's Disease : Jad, 2020
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
Luedecke D et al.
Neuroscience Letters, 2014
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
Different clinical phenotypes in siblings with a presenilin-1 P264L mutation.
Ishizuka T et al.
Dementia and Geriatric Cognitive Disorders, 2012
Potent amyloidogenicity and pathogenicity of Aβ43.
Saito T et al.
Nature Neuroscience, 2011
gamma-secretases: from cell biology to therapeutic strategies.
Bergmans BA et al.
The Lancet. Neurology, 2010
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 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
A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.
Jiménez Caballero PE et al.
European Journal of Neurology, 2008
Identification of gamma-secretase inhibitor potency determinants on presenilin.
Zhao B et al.
The Journal of Biological Chemistry, 2008
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Karlstrom H et al.
Journal of Neurochemistry, 2008
A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.
Raman A et al.
Journal of the Neurological Sciences, 2007
The molecular link between beta- and gamma-secretase activity on the amyloid beta precursor protein.
Tabaton M et al.
Cellular and Molecular Life Sciences : Cmls, 2007
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Random mutagenesis of presenilin-1 identifies novel mutants exclusively generating long amyloid beta-peptides.
Nakaya Y et al.
The Journal of Biological Chemistry, 2005
A presenilin 1 R278I mutation presenting with language impairment.
Godbolt AK et al.
Neurology, 2004
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
Hattori S et al.
Neuroscience Letters, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation.
Assini A et al.
Neurology, 2003
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0
Clinical, pathological, and biochemical spectrum of Alzheimer disease associated with PS-1 mutations.
Lleó A et al.
The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry, 0