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
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Fernández SG et al.
Molecular Neurodegeneration, 2025
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y 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
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2021
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
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
Kasuga K et al.
Journal of Human Genetics, 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
Variant Alzheimer disease with spastic paraparesis: a rare presenilin-1 mutation.
Pettersen JA et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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
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
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Karlstrom H et al.
Journal of Neurochemistry, 2008
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
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