Associated Papers
Presence of Alzheimer's disease variants in circular RNA of PSEN1 and PSEN2.
Johnson IP et al.
Journal of Alzheimer's Disease : Jad, 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
Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.
Course MM et al.
Brain : a Journal of 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
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Park JS et al.
Nature Communications, 2019
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM et al.
Alzheimer's Research & Therapy, 2018
Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.
Petok JR et al.
Neurobiology of Aging, 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
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
Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.
Soosman SK et al.
Neurobiology of Aging, 2016
Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.
Tominaga A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations.
Lee GJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
The Guinea Pig as a Model for Sporadic Alzheimer's Disease (AD): The Impact of Cholesterol Intake on Expression of AD-Related Genes.
Sharman MJ et al.
Plos One, 2013
Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype.
Ringman JM et al.
Archives of Neurology, 2012
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
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation.
Ringman JM et al.
Neuroscience Letters, 2011