Associated Papers
Neuropathological changes and amyloid-related imaging abnormalities in Alzheimer's disease treated with aducanumab versus untreated: a retrospective case-control study.
Boon BDC et al.
The Lancet. Neurology, 2025
Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
de Rojas I 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
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 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
Vascular models of Alzheimer's disease: An overview of recent in vitro models of the blood-brain barrier.
Takeuchi LE et al.
Neurobiology of Disease, 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
Mitochondrial dynamics and bioenergetics in Alzheimer's induced pluripotent stem cell-derived neurons.
MacMullen C et al.
Brain : a Journal of Neurology, 2025
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
Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.
Wang D et al.
Journal of Alzheimer's Disease : Jad, 2025
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.
Van Der Lee SJ et al.
Neurology, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
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
Advances in the cell biology of the trafficking and processing of amyloid precursor protein: impact of familial Alzheimer's disease mutations.
Wang J et al.
The Biochemical Journal, 2024
Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).
Wang D et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 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: Models and Molecular Mechanisms Informing Disease and Treatments.
Nystuen KL et al.
Bioengineering (basel, Switzerland), 2024
CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.
van der Ende EL et al.
Brain : a Journal of Neurology, 2023
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A et al.
Research Square, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Cold Spring Harbor Molecular Case Studies, 2023
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.
Novotny BC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
The transcriptomic landscape of neurons carrying PSEN1 mutations reveals changes in extracellular matrix components and non-coding gene expression.
Corsi GI et al.
Neurobiology of Disease, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Golgi fragmentation - One of the earliest organelle phenotypes in Alzheimer's disease neurons.
Haukedal H et al.
Frontiers in Neuroscience, 2023
The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery.
Reyes-Dumeyer D et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous.
Abrahamson EE et al.
Brain : a Journal of Neurology, 2022
Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.
Mol MO et al.
Alzheimer's Research & Therapy, 2022