Associated Papers
ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.
Kitahara S et al.
Scientific Reports, 2026
Characteristics and Long-Term Outcome of Acute Ischemic Stroke in Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Compared With Sporadic Small Vessel Occlusion.
Ha SH et al.
Journal of the American Heart Association, 2025
Serum NOTCH3 Extracellular Domain in Patients With CADASIL.
Kim H et al.
Neurology. Genetics, 2025
[Geographic Distribution of Patients with CADASIL in Japan].
Mukai M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2025
Analysis of Gut Microbiota and Their Metabolites in CADASIL Patients.
Watanabe-Hosomi A et al.
Journal of Clinical Neurology (seoul, Korea), 2025
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
Association between ischemic stroke, hemorrhagic stroke, dementia, and rs201118034 among general Taiwanese population.
Liaw YC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
Study of the NOTCH3 Gene Reveals the First CADASIL Cases in Crete and a Novel Pathogenic Variant.
Zaganas I et al.
Brain and Behavior, 2025
A case of coexisting heterozygous NOTCH3 and HTRA1 mutations in cerebral small vessel disease.
Yamashiro M et al.
Human Genome Variation, 2025
Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease.
Cheng YW et al.
Neurology. Genetics, 2025
[A Novel Subtype of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): Pro-hemorrhagic CADASIL].
Ishiyama H et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2025
Genetic and imaging features of CADASIL patients with acute ischemic stroke.
Park JY et al.
Scientific Reports, 2025
Signaling pathways and molecular mechanisms involved in the onset and progression of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); a focus on Notch3 signaling.
Heidari P et al.
The Journal of Headache and Pain, 2025
"Chocolate Chip Sign" on Susceptibility-Weighted Imaging: A Novel Neuroimaging Biomarker for HTRA1-Related Cerebral Small Vessel Disease.
Ando S et al.
Neurology. Genetics, 2025
Intracerebral hemorrhage in CADASIL.
Hsu SL et al.
Journal of the Chinese Medical Association : Jcma, 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
Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Hu F et al.
European Journal of Neurology, 2025
Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASIL.
Gravesteijn G et al.
Jama Neurology, 2025
Prevalence of Genetic Variants Causing Mendelian Stroke Among 15,548 Koreans Without Neurological Disorders.
Yang JO et al.
Journal of Stroke, 2025
Synergistic effects of mutation and glycosylation on disease progression.
Suzuki S et al.
Frontiers in Molecular Biosciences, 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
A Novel Mutation of the NOTCH3 Gene in A Young Patient Presenting with an Acute Stroke: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
Ragab I et al.
European Journal of Case Reports in Internal Medicine, 2025
Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders.
Cho EH et al.
Plos One, 2025
CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.
Wang Y et al.
Frontiers in Neurology, 2025
Study protocol for LOMCAD Trial: Effect of lomerizine hydrochloride to prevent recurrence of cerebral ischemic events in CADASIL patients.
Mizuno T et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2024
The N-acetylglucosaminyltransferase Radical fringe contributes to defects in JAG1-dependent turnover and signaling of NOTCH3 CADASIL mutants.
Suzuki S et al.
The Journal of Biological Chemistry, 2024
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
Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.
Tasharrofi B et al.
Molecular Biology Reports, 2024
Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.
Ishiyama H et al.
Annals of Neurology, 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
Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease.
Mizuta I et al.
Biomolecules, 2024
Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review.
Boston G et al.
Cerebral Circulation - Cognition and Behavior, 2024
Mutant NOTCH3ECD Triggers Defects in Mitochondrial Function and Mitophagy in CADASIL Cell Models.
Wang W et al.
Journal of Alzheimer's Disease : Jad, 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
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.
Liu M et al.
Annals of Clinical and Translational Neurology, 2023
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
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients.
Park HK et al.
Annals of Neurology, 2023
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
Uemura M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2023
Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Yamamoto Y et al.
Journal of Clinical Neurology (seoul, Korea), 2023
Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation.
Takei J et al.
Frontiers in Neurology, 2023
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
Ni W et al.
Cns Neuroscience & Therapeutics, 2022
Genotype and Phenotype Differences in CADASIL from an Asian Perspective.
Kim Y et al.
International Journal of Molecular Sciences, 2022
Occurrence of Intracranial Hemorrhage and Associated Risk Factors in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Systematic Review and Meta-Analysis.
Lai QL et al.
Journal of Clinical Neurology (seoul, Korea), 2022