Associated Papers
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
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
The Alzheimer's disease risk gene SORL1 is a regulator of excitatory neuronal function.
Williams CA et al.
Biorxiv : the Preprint Server for Biology, 2025
Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease.
Castelot R et al.
Alzheimer's Research & Therapy, 2025
The Spectrum of Genetic Risk in Alzheimer Disease.
Karagas N et al.
Neurology. Genetics, 2025
The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.
Jensen AMG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.
Fazeli E et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2024
A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.
Fazeli E et al.
Acta Neuropathologica, 2024
Pharmacologic enhancement of retromer rescues endosomal pathology induced by defects in the Alzheimer's gene SORL1.
Mishra S et al.
Stem Cell Reports, 2023
A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting.
Fazeli E et al.
Biorxiv : the Preprint Server for Biology, 2023
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.
Rovelet-Lecrux A et al.
Acta Neuropathologica Communications, 2021
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
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