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
39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf
Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology.
Gomez-Sequeda N et al.
Scientific Reports, 2023
Effects of presenilin-1 familial Alzheimer's disease mutations on γ-secretase activation for cleavage of amyloid precursor protein.
Do HN et al.
Communications Biology, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 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
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
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
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
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.
Heckmann JM et al.
Brain : a Journal of Neurology, 2004
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
Rogaeva EA et al.
Neurology, 2001
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