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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND
Protein Structure Prediction for Disease-Related Insertions/Deletions in Presenilin 1 Gene.
Avramouli A et al.
Advances in Experimental Medicine and Biology, 2023
Fluid Biomarkers and APOE Status of Early Onset Alzheimer's Disease Variants: A Systematic Review and Meta-Analysis.
Kaur G et al.
Journal of Alzheimer's Disease : Jad, 2020
32333592 (PubMed )
Supplement: sj-xlsx-1-alz-10.3233_jad-200052.xlsx › Supplementary_Table_3
Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.
You C et al.
Frontiers in Neurology, 2020
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.
Van Giau V et al.
Bmc Neurology, 2019
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and Biology, 2019
Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease.
Tiedt HO et al.
Neuroscience Letters, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
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