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
41685556 (PubMed )
Supplement: ALZ-22-e71042-s003.docx
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
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
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
Coding mutations in SORL1 and Alzheimer disease.
Vardarajan BN et al.
Annals of Neurology, 2015
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