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
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Fernández SG et al.
Molecular Neurodegeneration, 2025
Alzheimer's Disease; Mechanism, Mutations, and Applications of Nano-Medicine.
Maisam M et al.
Frontiers in Bioscience (landmark Edition), 2023
Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.
Abondio P et al.
International Journal of Molecular Sciences, 2022
36555510 (PubMed )
Supplement: ijms-23-15871-s001.zip › ijms-2049902-supplementary.xlsx › S1
Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.
Liu Y et al.
Frontiers in Aging Neuroscience, 2022
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
O'Connor A et al.
Brain : a Journal of Neurology, 2021
33892504 (PubMed )
Supplement: awab166_supplementary_data.zip › awab166-suppl_data › brain-2020-02233-File010.pdf
Quantitative detection and staging of presymptomatic cognitive decline in familial Alzheimer's disease: a retrospective cohort analysis.
O'Connor A et al.
Alzheimer's Research & Therapy, 2020
33023653 (PubMed )
Supplement: 13195_2020_695_MOESM1_ESM.docx
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
Bi C et al.
Aging and Disease, 2019
Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.
Weston PSJ et al.
Alzheimer's Research & Therapy, 2019
30786919 (PubMed )
Supplement: 13195_2019_472_MOESM1_ESM.docx
Discovery and validation of autosomal dominant Alzheimer's disease mutations.
Hsu S et al.
Alzheimer's Research & Therapy, 2018
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
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