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
Benchmarking AlphaMissense pathogenicity predictions against APP, PSEN1, and PSEN2 variants of unknown significance.
Pillai J et al.
Biochemistry and Biophysics Reports, 2025
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.
Kabir MT et al.
Neurotoxicity Research, 2020
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
The genes associated with early-onset Alzheimer's disease.
Dai MH et al.
Oncotarget, 2018
Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.
Cai Y et al.
Clinical Interventions in Aging, 2015
Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.
El Kadmiri N et al.
Neuroscience, 2014
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