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
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
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
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
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.
Tejada Moreno JA et al.
Plos One, 2022
SORL1 mutations are associated with parkinsonian and psychiatric features in Alzheimer disease: Case reports.
Qiu G et al.
Medicine, 2021
Sorting Out the Role of the Sortilin-Related Receptor 1 in Alzheimer's Disease.
Barthelson K et al.
Journal of Alzheimer's Disease 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
SORLA attenuates EphA4 signaling and amyloid β-induced neurodegeneration.
Huang TY et al.
The Journal of Experimental Medicine, 2017
Genetics of Alzheimer's disease: From pathogenesis to clinical usage.
Shao W et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2017
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
Coding mutations in SORL1 and Alzheimer disease.
Vardarajan BN et al.
Annals of Neurology, 2015