Associated Papers
[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
Vascular NOTCH3 Deposition Load: Association With NOTCH3 Genotype and CADASIL Disease Severity.
Cheng YW et al.
Neurology. Genetics, 2025
Commissural Fiber Disruption Is Associated With Symptom Onset in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Hsu SL et al.
Journal of the American Heart Association, 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
Bilateral Middle Cerebellar Peduncle Sign in a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy and Coronavirus Disease 2019.
Mitsutake A et al.
Internal Medicine (tokyo, Japan), 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 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
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
Border-Zone Cerebral Infarcts Associated with COVID-19 in CADASIL: A Report of 3 Cases and Literature Review.
Aghetti A et al.
Cerebrovascular Diseases Extra, 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
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
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
Inflammatory Optic Neuropathy as a Presenting Feature of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Moura J et al.
The Neurohospitalist, 2023
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.
Juhosová M et al.
Neurogenetics, 2023
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Comparison of clinical and neuroimaging features between NOTCH3 mutations and nongenetic spontaneous intracerebral haemorrhage.
Chen CH et al.
European Journal of Neurology, 2022
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
Ni W et al.
Cns Neuroscience & Therapeutics, 2022
Small Fiber Pathology in CADASIL: Clinical Correlation With Cognitive Impairment.
Cheng YW et al.
Neurology, 2022
Reduced macular vessel density and inner retinal thickness correlate with the severity of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Lin CW et al.
Plos One, 2022
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
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
Moreno-García M et al.
American Journal of Medical Genetics. Part A, 2021
CADASIL in a patient with bilateral internal carotid artery agenesis.
MacDonald A et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2021
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases.
Xiromerisiou G et al.
Neurology. Genetics, 2020
Generation of human induced pluripotent stem cells (NIHTVBi004-A, NIHTVBi005-A, NIHTVBi006-A, NIHTVBi007-A, NIHTVBi008-A) from 5 CADASIL patients with NOTCH3 mutation.
Chen G et al.
Stem Cell Research, 2020
Phenotypic characterization of CADASIL patients with the Arg332Cys mutation in the NOTCH3.
Li CS et al.
Annals of Translational Medicine, 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
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
Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.
Patel D et al.
Jama Network Open, 2019
Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.
Chen S et al.
Cns Neuroscience & Therapeutics, 2017
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS et al.
Brain : a Journal of Neurology, 2017
CADASIL: Ultrastructural insights into the morphology of granular osmiophilic material.
Lorenzi T et al.
Brain and Behavior, 2017
Genotype-phenotype correlations of cysteine replacement in CADASIL.
Matsushima T et al.
Neurobiology of Aging, 2017
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
Maksemous N et al.
Human Genomics, 2016
Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.
Akinyemi RO et al.
Journal of the Neurological Sciences, 2016
Successful Use of Intravenous Tissue Plasminogen Activator as Treatment for a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report and Review of Literature.
Khan MT et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2016
Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.
Ueda A et al.
Journal of Neurology, 2015
NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients.
Yoon CW et al.
Neurobiology of Aging, 2015
A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.
Fernández A et al.
Journal of Molecular Neuroscience : Mn, 2015
Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.
Vattulainen S et al.
Molecular Genetics & Genomic Medicine, 2015
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.
Bianchi S et al.
Journal of Neurology, 2015
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China.
Yin X et al.
The International Journal of Neuroscience, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Kim YE et al.
Neurobiology of Aging, 2014