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
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease.
Bagaria J et al.
Frontiers in Neurology, 2022
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
SORL1 mutation in a Greek family with Parkinson's disease and dementia.
Xiromerisiou G et al.
Annals of Clinical and Translational Neurology, 2021
Novel Rare SORL1 Variants in Early-Onset Dementia.
Korpioja A et al.
Journal of Alzheimer's Disease : Jad, 2021
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Bagyinszky E et al.
Diagnostics (basel, Switzerland), 2020
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Genetic Study of Alzheimer's Disease in Saudi Population.
El Bitar F et al.
Journal of Alzheimer's Disease : Jad, 2019
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
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014