Associated Papers
Assessment of Small Vessel Density Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalophy (CADASIL) by High-Resolution Black-Blood MRI.
Yang Z et al.
Journal of Magnetic Resonance Imaging : Jmri, 2026
[Geographic Distribution of Patients with CADASIL in Japan].
Mukai M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2025
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 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
Meningeal lymphatic dysfunction in sporadic cerebral small vessel diseases and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by DCE-MRI.
Wang H et al.
Quantitative Imaging in Medicine and Surgery, 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
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Occurrence, Risk Factors, and Prognosis of Acute Cerebral Microinfarcts in CADASIL.
Men X et al.
Annals of Clinical and Translational Neurology, 2025
Genetic and imaging features of CADASIL patients with acute ischemic stroke.
Park JY et al.
Scientific Reports, 2025
Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review.
Geng Y et al.
The Neurologist, 2025
Intracerebral hemorrhage in CADASIL.
Hsu SL et al.
Journal of the Chinese Medical Association : Jcma, 2025
Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Hu F et al.
European Journal of Neurology, 2025
CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.
Wang Y et al.
Frontiers in Neurology, 2025
A Chinese CADASIL family with a rare heterozygous mutation in exon 2 of NOTCH3: A case report.
Guo J et al.
Medicine, 2024
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P et al.
Ebiomedicine, 2024
Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.
Cho BPH et al.
Journal of the American Heart Association, 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
First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts-case report and brief review.
Liu W et al.
Bmc Neurology, 2024
Modifiable vascular risk factors contribute to stroke in 1080 NOTCH3 R544C carriers in Taiwan Biobank.
Lin HJ et al.
International Journal of Stroke : Official Journal of the International Stroke Society, 2024
Massive Microbleeds in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Ling C et al.
Stroke, 2023
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
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
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Cheng S et al.
Cell Discovery, 2023
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal 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
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
Ni W et al.
Cns Neuroscience & Therapeutics, 2022
Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Hack RJ et al.
Stroke, 2022
Genotype and Phenotype Differences in CADASIL from an Asian Perspective.
Kim Y et al.
International Journal of Molecular Sciences, 2022
Elderly CADASIL patients with intact neurological status.
Zhang R et al.
Journal of Stroke, 2022
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Alvarez-Mora MI et al.
International Journal of Molecular Sciences, 2022
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.
Almeida MR et al.
Neurogenetics, 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
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
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.
Arteche-López A et al.
Scientific Reports, 2021
High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy.
Chen Z et al.
Frontiers in Neurology, 2021
NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients.
Hu Y 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
Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients.
Mukai M et al.
Journal of Human Genetics, 2020
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.
Orme T et al.
Acta Neuropathologica Communications, 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
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