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
Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.
Liang Z et al.
Frontiers in Neurology, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
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
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
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
Sun L et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Evolving brain structural changes in PSEN1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2015
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
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.
Antonell A et al.
Neuroscience Letters, 2011