Associated Papers
15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN.
Daniels AJ et al.
Npj Dementia, 2026
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features.
O'Connor A et al.
Neurobiology of Aging, 2021
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Park JS et al.
Nature Communications, 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
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
Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.
N'Songo A et al.
Journal of Alzheimer's Disease : Jad, 2017
Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.
Soosman SK et al.
Neurobiology of Aging, 2016
Evaluating pathogenic dementia variants in posterior cortical atrophy.
Carrasquillo MM et al.
Neurobiology of Aging, 2016
Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.
Roeber S et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.
Ting SK et al.
Journal of Alzheimer's Disease : Jad, 2014
C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.
Wojtas A et al.
American Journal of Neurodegenerative Disease, 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