Associated Papers
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease.
Sanjuan Ruiz I et al.
Research Square, 2025
DAOA and APOEε4 as Modifiers of Age of Onset in Autosomal-Dominant Early-Onset Alzheimer's Disease Caused by the PSEN1 A431E Variant.
Valdez-Gaxiola CA et al.
International Journal of Molecular Sciences, 2025
Recent Advances and Future Directions in Alzheimer's Disease Genetic Research.
Stancheva M et al.
International Journal of Molecular Sciences, 2025
Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.
Xia Y et al.
Neurology and Therapy, 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
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis.
Jih KY et al.
Alzheimer's Research & Therapy, 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
Proteostasis and lysosomal repair deficits in transdifferentiated neurons of Alzheimer's disease.
Chou CC et al.
Nature Cell Biology, 2025
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Alzheimer-mutant γ-secretase complexes stall amyloid β-peptide production.
Arafi P et al.
Elife, 2025
Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes.
Sepulveda-Falla D et al.
Journal of Neuropathology and Experimental Neurology, 2025
Sequence of decline on the NIH-toolbox cognitive battery in a predominantly Latino sample with autosomal dominant Alzheimer's disease.
Petkus AJ et al.
Journal of Alzheimer's Disease : Jad, 2025
Retinal and Optic Nerve Lesions Correspond to Amyloid in Autosomal Dominant Alzheimer's Disease.
Kashani AH et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Proteostasis and lysosomal repair deficits in transdifferentiated neurons of Alzheimer's disease.
Chou CC et al.
Biorxiv : the Preprint Server for Biology, 2025
Motor abilities and cognitive performance in Latinos with autosomal dominant Alzheimer's disease.
Petkus AJ et al.
The Journal of Prevention of Alzheimer's Disease, 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 curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations.
Villegas-Llerena C et al.
Frontiers in Neuroscience, 2025
Alzheimer-mutant γ-secretase complexes stall amyloid β-peptide production.
Arafi P et al.
Biorxiv : the Preprint Server for Biology, 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
Cryo-EM structures of cotton wool plaques' amyloid β and of tau filaments in dominantly inherited Alzheimer disease.
Hoq MR et al.
Acta Neuropathologica, 2024
Alzheimer's disease pathophysiology in the Retina.
Gaire BP et al.
Progress in Retinal and Eye Research, 2024
Divergent Age-Dependent Conformational Rearrangement within Aβ Amyloid Deposits in APP23, APPPS1, and AppNL-F Mice.
Parvin F et al.
Acs Chemical Neuroscience, 2024
New precision medicine avenues to the prevention of Alzheimer's disease from insights into the structure and function of γ-secretases.
De Strooper B et al.
The Embo Journal, 2024
Mesenchymal Stem Cells from Familial Alzheimer's Patients Express MicroRNA Differently.
Rochín-Hernández LJ et al.
International Journal of Molecular Sciences, 2024
Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population.
Valdez-Gaxiola CA et al.
International Journal of Molecular Sciences, 2023
Comorbidities in Early-Onset Sporadic versus Presenilin-1 Mutation-Associated Alzheimer's Disease Dementia: Evidence for Dependency on Alzheimer's Disease Neuropathological Changes.
Sepulveda-Falla D et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The Proteome Profile of Olfactory Ecto-Mesenchymal Stem Cells-Derived from Patients with Familial Alzheimer's Disease Reveals New Insights for AD Study.
Rochín-Hernández LJ et al.
International Journal of Molecular Sciences, 2023
Use of the Spanish English Neuropsychological Assessment Scale in older adult Latines and those at risk for autosomal dominant Alzheimer's disease.
Tureson KN et al.
Journal of Clinical and Experimental Neuropsychology, 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
Retinal pathological features and proteome signatures of Alzheimer's disease.
Koronyo Y et al.
Acta Neuropathologica, 2023
Perceptions of Knowledge, Disease Impact and Predictive Genetic Testing in Family Members at Risk to Develop Early-Onset Alzheimer's Disease (EOAD) and Their Levels of Suicidal Ideation: A Mixed Study.
Reyes-Domínguez YA et al.
Brain Sciences, 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
Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.
Ringman JM et al.
Brain Communications, 2023
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
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022