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
41685556 (PubMed )
Supplement: ALZ-22-e71042-s003.docx
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
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.
Tafaleng EN et al.
Hepatology (baltimore, Md.), 2024
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
Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.
Benussi L et al.
International Journal of Molecular Sciences, 2021
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
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
Germline deletion of ETV6 in familial acute lymphoblastic leukemia.
Rampersaud E et al.
Blood Advances, 2019
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
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
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
Coding mutations in SORL1 and Alzheimer disease.
Vardarajan BN et al.
Annals of Neurology, 2015
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