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
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.
Jensen AMG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
SORL1 is a receptor for tau that promotes tau seeding.
Cooper JM et al.
The Journal of Biological Chemistry, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Pharmacologic enhancement of retromer rescues endosomal pathology induced by defects in the Alzheimer's gene SORL1.
Mishra S et al.
Stem Cell Reports, 2023
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
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
SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy.
Cencini F et al.
European Journal of Neurology, 2022
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
Jin B et al.
Genome Research, 2022
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
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
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
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
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
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
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data.
Campion D et al.
Acta Neuropathologica, 2019
Genetic Study of Alzheimer's Disease in Saudi Population.
El Bitar F et al.
Journal of Alzheimer's Disease : Jad, 2019
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
Genetic epistasis regulates amyloid deposition in resilient aging.
Felsky D et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017
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
Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.
Louwersheimer E et al.
Journal of Alzheimer's Disease : Jad, 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
Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease.
Andersen OM et al.
Acta Neuropathologica, 2016
A role for TENM1 mutations in congenital general anosmia.
Alkelai A et al.
Clinical Genetics, 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
Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.
Cuyvers E et al.
The Lancet. Neurology, 2016
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 2016
Coding mutations in SORL1 and Alzheimer disease.
Vardarajan BN et al.
Annals of Neurology, 2015
Genetic Variants Associated With Alzheimer Disease in the 22 Arab Countries: A Systematic Review.
Al-Thani HF et al.
Alzheimer Disease and Associated Disorders, 0