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
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
39875235 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
28350801 (PubMed )
Supplement: pmed.1002270.s001.xlsx › PSEN1_mutations
A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease.
Zhan Y et al.
Neurobiology of Aging, 2017
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
Nicolas G et al.
European Journal of Human Genetics : Ejhg, 2016
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