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
New precision medicine avenues to the prevention of Alzheimer's disease from insights into the structure and function of γ-secretases.
De Strooper B et al.
The Embo Journal, 2024
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
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.
Kabir MT et al.
Neurotoxicity Research, 2020
PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.
Kim YE et al.
Scientific Reports, 2020
Fluid Biomarkers and APOE Status of Early Onset Alzheimer's Disease Variants: A Systematic Review and Meta-Analysis.
Kaur G et al.
Journal of Alzheimer's Disease : Jad, 2020
Regional patterns of 18F-florbetaben uptake in presenilin 1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2019
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
Evolving brain structural changes in PSEN1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2015
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
Pera M et al.
Acta Neuropathologica, 2013
Evolving brain functional abnormalities in PSEN1 mutation carriers: a resting and visual encoding fMRI study.
Sala-Llonch R et al.
Journal of Alzheimer's Disease : Jad, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
PSEN1 mutation carriers present lower cerebrospinal fluid amyoid-β42 levels than sporadic early-onset Alzheimer's disease patients but no differences in neuronal injury biomarkers.
Balasa M et al.
Journal of Alzheimer's Disease : Jad, 2012
Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort.
Antonell A et al.
Journal of Alzheimer's Disease : Jad, 2012
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 2011
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E et al.
Journal of Alzheimer's Disease : Jad, 2010
A novel presenilin 1 mutation (L282F) in familial Alzheimer's disease.
Hamaguchi T et al.
Journal of Neurology, 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
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
Athan ES et al.
Jama, 2001
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
Rogaeva EA et al.
Neurology, 2001
Presenilin structure, function and role in Alzheimer disease.
Fraser PE et al.
Biochimica Et Biophysica Acta, 2000
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
Campion D et al.
American Journal of Human Genetics, 1999
DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.
Aldudo J et al.
Human Mutation, 1999
Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease.
Aldudo J et al.
Neuroscience Letters, 1998