Associated Papers
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
Structural and functional effects of disease mutations in the interface of human membrane protein complexes.
Ridha F et al.
International Journal of Biological Macromolecules, 2025
Presence of Alzheimer's disease variants in circular RNA of PSEN1 and PSEN2.
Johnson IP et al.
Journal of Alzheimer's Disease : Jad, 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
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Research Square, 2025
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Selective association of EEG microstates with clinical symptoms and mutation status in monogenic Alzheimer disease.
Johansson C et al.
Neuroimage. Clinical, 2025
Case of early onset Alzheimer's disease associated with a novel PSEN1 variant identified in Colombia.
Zapata-Restrepo LM et al.
Npj Dementia, 2025
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
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
AlzDiscovery: A computational tool to identify Alzheimer's disease-causing missense mutations using protein structure information.
Pan Q et al.
Protein Science : a Publication of the Protein Society, 2024
Very Early Onset Familial Alzheimer's Disease Due to Mutation in PSEN1 I143T - First Case Report from South Asia.
Anandan S et al.
Neurology India, 2024
Familial Alzheimer mutations stabilize synaptotoxic γ-secretase-substrate complexes.
Devkota S et al.
Cell Reports, 2024
Odor Identification Across Time in Mutation Carriers and Non-Carriers in Autosomal-Dominant Alzheimer's Disease.
Almkvist O et al.
Journal of Alzheimer's Disease : Jad, 2024
Mutated Toll-like receptor 9 increases Alzheimer's disease risk by compromising innate immunity protection.
Cacace R et al.
Molecular Psychiatry, 2023
Tracking reactive astrogliosis in autosomal dominant and sporadic Alzheimer's disease with multi-modal PET and plasma GFAP.
Chiotis K et al.
Molecular Neurodegeneration, 2023
Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology.
Gomez-Sequeda N et al.
Scientific Reports, 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
Effects of presenilin-1 familial Alzheimer's disease mutations on γ-secretase activation for cleavage of amyloid precursor protein.
Do HN et al.
Communications Biology, 2023
Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.
Course MM et al.
Brain : a Journal of Neurology, 2023
Embryo Selection for a Carrier of an Early-Onset Alzheimer's Disease-Associated Mutation in the PSEN1 Gene.
Valdés-Martínez OH et al.
The Journal of Prevention of Alzheimer's Disease, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.
Liang Z et al.
Frontiers in Neurology, 2023
APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal-dominant Alzheimer's disease.
Almkvist O et al.
European Journal of Neurology, 2022
Aβ and tau prions feature in the neuropathogenesis of Down syndrome.
Condello C et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease.
Hernandez-Sapiens MA et al.
Neural Regeneration Research, 2022
Practice effects in cognitive assessments three years later in non-carriers but not in symptom-free mutation carriers of autosomal-dominant Alzheimer's disease: Exemplifying procedural learning and memory?
Almkvist O et al.
Frontiers in Aging Neuroscience, 2022
The APOE ε4 Allele Affects Cognitive Functions Differently in Carriers of APP Mutations Compared to Carriers of PSEN1 Mutations in Autosomal-Dominant Alzheimer's Disease.
Almkvist O et al.
Genes, 2021
Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.
Kakuda N et al.
Translational Psychiatry, 2021
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.
Llibre-Guerra JJ et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Perrone F et al.
Alzheimer's Research & Therapy, 2020
Cortical microstructural correlates of astrocytosis in autosomal-dominant Alzheimer disease.
Vilaplana E et al.
Neurology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Blauwendraat C et al.
Neurobiology of Aging, 2019
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.
Lacour M et al.
Journal of Alzheimer's Disease : Jad, 2019