Associated Papers
Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.
Johansson C et al.
Alzheimer's Research & Therapy, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
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
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Rodent Models of Alzheimer's Disease: Past Misconceptions and Future Prospects.
Collins HM et al.
International Journal of Molecular Sciences, 2024
Autosomal Dominant Alzheimer's Disease Mutations in Human Microglia Are Not Sufficient to Trigger Amyloid Pathology in WT Mice but Might Affect Pathology in 5XFAD Mice.
Romero-Molina C et al.
International Journal of Molecular Sciences, 2024
Alzheimer's Disease; Mechanism, Mutations, and Applications of Nano-Medicine.
Maisam M et al.
Frontiers in Bioscience (landmark Edition), 2023
Alterations of ATG4A and LC3B in neurons derived from Alzheimer's disease patients.
Shirotani K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 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
Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.
Willumsen N et al.
Brain Pathology (zurich, Switzerland), 2022
Insights into Human-Induced Pluripotent Stem Cell-Derived Astrocytes in Neurodegenerative Disorders.
Kumar M et al.
Biomolecules, 2022
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
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
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
The Uppsala APP deletion causes early onset autosomal dominant Alzheimer's disease by altering APP processing and increasing amyloid β fibril formation.
Pagnon de la Vega M et al.
Science Translational Medicine, 2021
Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
Arber C et al.
Cell Reports, 2021
The association of circulating amylin with β-amyloid in familial Alzheimer's disease.
Ly H et al.
Alzheimer's & Dementia (new York, N. Y.), 2021
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
Genetic architecture of Alzheimer's disease.
Neuner SM et al.
Neurobiology of Disease, 2020
Using human induced pluripotent stem cells (hiPSCs) to investigate the mechanisms by which Apolipoprotein E (APOE) contributes to Alzheimer's disease (AD) risk.
Raman S et al.
Neurobiology of Disease, 2020
New Insights into the Molecular Bases of Familial Alzheimer's Disease.
D'Argenio V et al.
Journal of Personalized Medicine, 2020
Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier - phenotypic variability in autosomal dominant Alzheimer's disease.
Lloyd GM et al.
Acta Neuropathologica Communications, 2020
The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.
Guyon A et al.
Plos One, 2020
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cochran JN et al.
Cold Spring Harbor Molecular Case Studies, 2019
Modeling Neurological Disorders with Human Pluripotent Stem Cell-Derived Astrocytes.
Suga M et al.
International Journal of Molecular Sciences, 2019
Influence of the familial Alzheimer's disease-associated T43I mutation on the transmembrane structure and γ-secretase processing of the C99 peptide.
Tang TC et al.
The Journal of Biological Chemistry, 2019
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Blauwendraat C et al.
Neurobiology of Aging, 2019
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
Bi C et al.
Aging and Disease, 2019
Mitophagy inhibits amyloid-β and tau pathology and reverses cognitive deficits in models of Alzheimer's disease.
Fang EF et al.
Nature Neuroscience, 2019
Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.
Weston PSJ et al.
Alzheimer's Research & Therapy, 2019
Stem Cell-Derived Neurons as Cellular Models of Sporadic Alzheimer's Disease.
Foveau B et al.
Journal of Alzheimer's Disease : Jad, 2019
Induced Pluripotent Stem Cell-Derived Astroglia: A New Tool for Research Towards the Treatment of Alzheimer's Disease.
Atkinson-Dell R et al.
Advances in Experimental Medicine and Biology, 2019