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 › 2-Supplemental_Table1_AR_20250121_JLliF.pdf
Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.
Marsh JA et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025
Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.
Novotny BC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
36251323 (PubMed )
Supplement: NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx › Table_S1
Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.
Jiang S et al.
Translational Psychiatry, 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
30412504 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-180829.docx
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
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Relative hyperperfusion by SPECT in a family with a presenilin 1 (T245P) mutation.
Edwards-Lee T et al.
Neurocase, 2008
A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease.
Edwards-Lee T et al.
Neuroscience Letters, 2006
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