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 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
40336092 (PubMed )
Supplement: 13195_2025_1748_MOESM3_ESM.xlsx › Feuille1
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.
Kolarikova K et al.
Frontiers in Neuroscience, 2022
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza
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
Novel Rare SORL1 Variants in Early-Onset Dementia.
Korpioja A et al.
Journal of Alzheimer's Disease : Jad, 2021
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
32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S1
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
28537274 (PubMed )
Supplement: ejhg201787x2.xlsx › Holstege_et_al_Table_S3
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
27026413 (PubMed )
Supplement: 401_2016_1566_MOESM1_ESM.docx
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 2016
27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1
Coding mutations in SORL1 and Alzheimer disease.
Vardarajan BN et al.
Annals of Neurology, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC4_ERR166308
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Mao Y et al.
Plos One, 2013
24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S2
Select a paper to view details