Associated Papers
RBFOX1 association with age at onset of Alzheimer's disease.
Xicota L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2026
Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease-associated genes in the Hispanic population.
Willett JDS et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2026
Postmortem brain MRI reveals differential associations of subcortical and limbic volumes with cortical thinning and neuropathology patterns.
Khandelwal P et al.
Biorxiv : the Preprint Server for Biology, 2025
Multi-ancestry exome-wide study identifies variants associated with Alzheimer's disease protection.
Khurshid Z et al.
Journal of Alzheimer's Disease : Jad, 2025
Matching Heterogeneous Cohorts by Projected Principal Components Reveals Two Novel Alzheimer's Disease-Associated Genes in the Hispanic Population.
Willett JDS et al.
Medrxiv : the Preprint Server for Health Sciences, 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 disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 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
Reduced SH3RF3 may protect against Alzheimer's disease by lowering microglial pro-inflammatory responses via modulation of JNK and NFkB signaling.
Patel R et al.
Biorxiv : the Preprint Server for Biology, 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
Case of early onset Alzheimer's disease associated with a novel PSEN1 variant identified in Colombia.
Zapata-Restrepo LM et al.
Npj Dementia, 2025
Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.
Lee WP et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease.
Wang P et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D et al.
Genome Medicine, 2023
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
Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project.
Lee WP et al.
Medrxiv : the Preprint Server for Health 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
Axonal damage and astrocytosis are biological correlates of grey matter network integrity loss: a cohort study in autosomal dominant Alzheimer disease.
Vermunt L et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Amyloid precursor protein 𝛽CTF accumulates in synapses in sporadic and genetic forms of Alzheimer's disease.
Ferrer-Raventós P et al.
Neuropathology and Applied Neurobiology, 2023
The Caribbean-Hispanic Alzheimer's disease brain transcriptome reveals ancestry-specific disease mechanisms.
Felsky D et al.
Neurobiology of Disease, 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
Admixture Mapping of Alzheimer's disease in Caribbean Hispanics identifies a new locus on 22q13.1.
Kizil C et al.
Molecular Psychiatry, 2022
Dissecting the clinical heterogeneity of early-onset Alzheimer's disease.
Sirkis DW et al.
Molecular Psychiatry, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.
Libard S et al.
Journal of Alzheimer's Disease : Jad, 2022
Triplication of Synaptojanin 1 in Alzheimer's Disease Pathology in Down Syndrome.
Hwang R et al.
Current Alzheimer Research, 2022
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
Mesaros M et al.
Genes, 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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 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
Reaction time and response inhibition in autosomal dominant Alzheimer's disease.
Medina LD et al.
Brain and Cognition, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients.
Dumois-Petersen S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020