Associated Papers
Comorbidity Between Recurrent Major Depressive Disorder and CADASIL: A Case Report With a Brief Review of Published Cases.
Wang YM et al.
Clinical Case Reports, 2025
Light-chain split luciferase assay implicates pathological NOTCH3 thiol reactivity in inherited cerebral small vessel disease.
Cartee NMP et al.
The Journal of Biological Chemistry, 2025
Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASIL.
Gravesteijn G et al.
Jama Neurology, 2025
Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review.
Zhao Y et al.
Frontiers in Neurology, 2025
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Shalash A et al.
Frontiers in Genetics, 2025
CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.
Wang Y et al.
Frontiers in Neurology, 2025
Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.
Cao Y et al.
International Journal of Molecular Sciences, 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
[Recurrent depressive disorder associated with an atypical CADASIL syndrome].
Ernes K et al.
Tijdschrift Voor Psychiatrie, 2024
Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo models.
Gong Z et al.
Frontiers in Molecular Neuroscience, 2024
Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations.
Lee SJ et al.
The Journal of Biological Chemistry, 2023
Genotype and Phenotype Differences in CADASIL from an Asian Perspective.
Kim Y et al.
International Journal of Molecular Sciences, 2022
Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection.
Ottaiano A et al.
Therapeutic Advances in Medical Oncology, 2022
The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.
Guo L et al.
Cns Neuroscience & Therapeutics, 2021
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT et al.
Genes, 2020
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
Investigating diagnostic sequencing techniques for CADASIL diagnosis.
Dunn PJ et al.
Human Genomics, 2020
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Prevalence and Atypical Clinical Characteristics of NOTCH3 Mutations Among Patients Admitted for Acute Lacunar Infarctions.
Okada T et al.
Frontiers in Aging Neuroscience, 2020
Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations.
Kim H et al.
Plos One, 2020
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation: A case report.
Sun Y et al.
Medicine, 2019
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) presenting with stroke in a young man.
Dunphy L et al.
Bmj Case Reports, 2019
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 2019
Role of NOTCH3 Mutations in the Cerebral Small Vessel Disease Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Coupland K et al.
Stroke, 2018
Notch3 protein expression in skin fibroblasts from CADASIL patients.
Qualtieri A et al.
Journal of the Neurological Sciences, 2018
Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.
Muiño E et al.
International Journal of Molecular Sciences, 2017
Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.
Wollenweber FA et al.
Stroke, 2015
Case records of the Massachusetts General Hospital. Case 12-2009. A 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members.
Brass SD et al.
The New England Journal of Medicine, 2009