Associated Papers
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 2025
Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
de Rojas I et al.
Alzheimer's Research & Therapy, 2025
Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.
Cerfontaine MN et al.
Annals of Neurology, 2025
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 2025
Genetic and imaging features of CADASIL patients with acute ischemic stroke.
Park JY et al.
Scientific Reports, 2025
Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.
Van Der Lee SJ et al.
Neurology, 2025
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P et al.
Ebiomedicine, 2024
SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.
Papageorgiou L et al.
Genes, 2024
The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank.
Lin E et al.
Journal of Neurology, 2023
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.
Al-Amrani F et al.
Pediatric Neurology, 2023
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
Cysteine-Altering NOTCH3 Variants Are Associated with an Increased Risk of Autoimmune Diseases.
Rieder E et al.
Journal of Clinical Medicine, 2023
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients.
Park HK et al.
Annals of Neurology, 2023
Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Hack RJ et al.
Stroke, 2022
Elderly CADASIL patients with intact neurological status.
Zhang R et al.
Journal of Stroke, 2022
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years.
Hack RJ et al.
Stroke, 2022
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Gravesteijn G et al.
Neuropathology and Applied Neurobiology, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population.
Kang CH et al.
Neurology. Genetics, 2021
A Chinese CADASIL family with p.R578C mutation at exon 11 of the NOTCH3 gene.
Wu X et al.
Clinical Neurology and Neurosurgery, 2021
NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.
Cho BPH et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.
Rutten JW et al.
Neurology, 2020
Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.
He R et al.
Bmc Neurology, 2020
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.
Orme T et al.
Acta Neuropathologica Communications, 2020
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Apolipoprotein E ε4 Is Associated With the Development of Incident Dementia in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients With p.Arg544Cys Mutation.
Lee JS et al.
Frontiers in Aging Neuroscience, 2020
Clinical Features of 4 Novel NOTCH3 Mutations of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy in China.
Qin W et al.
Medical Science Monitor Basic Research, 2019
The role of clinical and neuroimaging features in the diagnosis of CADASIL.
Bersano A et al.
Journal of Neurology, 2018
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Sassi C et al.
Neurobiology of Aging, 2018
Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.
Nannucci S et al.
Plos One, 2018
Cerebral Microbleeds, Hypertension, and Intracerebral Hemorrhage in Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
Lee JS et al.
Frontiers in Neurology, 2017
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Rutten JW et al.
Annals of Clinical and Translational Neurology, 2016
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.
Bersano A et al.
Stroke, 2016
Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation.
Lee JS et al.
Dementia and Neurocognitive Disorders, 2016
NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients.
Yoon CW et al.
Neurobiology of Aging, 2015
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.
Bianchi S et al.
Journal of Neurology, 2015
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.
Liao YC et al.
Plos One, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014