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
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
Genetic and imaging features of CADASIL patients with acute ischemic stroke.
Park JY et al.
Scientific Reports, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
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
Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study.
Şanli ZS et al.
Molecular Syndromology, 2024
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.
Romay MC et al.
The Journal of Clinical Investigation, 2024
Treatment options for patients with CADASIL and large-scale cerebral infarction: mechanical thrombectomy and antiplatelet therapy-A case report.
Xiao S et al.
Frontiers in Neurology, 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
Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants.
Cheng YW et al.
Journal of the American Heart Association, 2023
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.
Korvatska O et al.
Journal of the Neurological Sciences, 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
Presentation of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) in the Acute Phase of COVID-19 Infection.
Jalilian Z et al.
Journal of Clinical Neurology (seoul, Korea), 2023
Multiple Sclerosis in a Patient With Neurogenic Locus Notch Homolog Protein 3 Mutation.
Lee HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2023
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.
Juhosová M et al.
Neurogenetics, 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
Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Mönkäre S et al.
Acta Neurologica Scandinavica, 2022
Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Hack RJ et al.
Stroke, 2022
Small Fiber Pathology in CADASIL: Clinical Correlation With Cognitive Impairment.
Cheng YW et al.
Neurology, 2022
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Gravesteijn G et al.
Neuropathology and Applied Neurobiology, 2022
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.
Almeida MR et al.
Neurogenetics, 2022
Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL.
Ueda A et al.
Frontiers in Neurology, 2022
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
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
Genotypic and Phenotypic Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy from China.
Zhang C et al.
European 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
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases.
Xiromerisiou G et al.
Neurology. Genetics, 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 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 Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing.
Han LH et al.
Clinical Interventions in Aging, 2020
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Okubo M et al.
Annals of Neurology, 2019
Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL.
Rajani RM et al.
Acta Neuropathologica Communications, 2019
Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL.
Kim Y et al.
Medicina (kaunas, Lithuania), 2019
CADASIL with Atypical Clinical Symptoms, Magnetic Resonance Imaging, and Novel Mutations: Two Case Reports and a Review of the Literature.
Sari US et al.
Journal of Molecular Neuroscience : Mn, 2019
The role of clinical and neuroimaging features in the diagnosis of CADASIL.
Bersano A et al.
Journal of Neurology, 2018
Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3.
Hung LY et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018