Associated Papers
Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants.
de Waal MWJ et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2026
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
In vivo validation of late-onset Alzheimer's disease genetic risk factors.
Sasner M et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
In vivo validation of late-onset Alzheimer's disease genetic risk factors.
Sasner M et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetic Phenotypes of Alzheimer's Disease: Mechanisms and Potential Therapy.
Quan M et al.
Phenomics (cham, Switzerland), 2023
The role of genetic risk factors of Alzheimer's disease in synaptic dysfunction.
Fu WY et al.
Seminars in Cell & Developmental Biology, 2023
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
Jin B et al.
Genome Research, 2022
Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.
Dong L et al.
Journal of Alzheimer's Disease : Jad, 2022
Endophenotypic effects of the SORL1 variant rs2298813 on regional brain volume in patients with late-onset Alzheimer's disease.
Chen CY et al.
Frontiers in Aging Neuroscience, 2022
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 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
SORL1 mutation in a Greek family with Parkinson's disease and dementia.
Xiromerisiou G et al.
Annals of Clinical and Translational Neurology, 2021
Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.
Shademan B et al.
Neuromolecular Medicine, 2021
Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.
Qin W et al.
Human Molecular Genetics, 2021
SORL1 mutations are associated with parkinsonian and psychiatric features in Alzheimer disease: Case reports.
Qiu G et al.
Medicine, 2021
Novel Rare SORL1 Variants in Early-Onset Dementia.
Korpioja A et al.
Journal of Alzheimer's Disease : Jad, 2021
Multi-omic comparison of Alzheimer's variants in human ESC-derived microglia reveals convergence at APOE.
Liu T et al.
The Journal of Experimental Medicine, 2020
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Bis JC et al.
Molecular Psychiatry, 2020
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Bagyinszky E et al.
Diagnostics (basel, Switzerland), 2020
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data.
Campion D et al.
Acta Neuropathologica, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.
Zhang X et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019
Genetic Study of Alzheimer's Disease in Saudi Population.
El Bitar F et al.
Journal of Alzheimer's Disease : Jad, 2019
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2019
Alzheimer disease associated variants in SORL1 accelerate dementia development in Parkinson disease.
Maple-Grødem J et al.
Neuroscience Letters, 2018
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.
Van Giau V et al.
Neuropsychiatric Disease and Treatment, 2018
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.
Holstege H et al.
European Journal of Human Genetics : Ejhg, 2017
Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.
Louwersheimer E et al.
Journal of Alzheimer's Disease : Jad, 2017
SORL1 gene, plasma biomarkers, and the risk of Alzheimer's disease for the Han Chinese population in Taiwan.
Chou CT et al.
Alzheimer's Research & Therapy, 2016
Genomics of Alzheimer's disease: Value of high-throughput genomic technologies to dissect its etiology.
Tosto G et al.
Molecular and Cellular Probes, 2016
SORL1 mutations in early- and late-onset Alzheimer disease.
Cuccaro ML et al.
Neurology. Genetics, 2016
Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease.
Andersen OM et al.
Acta Neuropathologica, 2016
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.
Verheijen J et al.
Acta Neuropathologica, 2016
Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.
Cuyvers E et al.
The Lancet. Neurology, 2016
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 2016
Influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease.
Louwersheimer E et al.
Neurobiology of Aging, 2015