Associated Papers
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 2025
Genetic Variation Analysis of Essential Tremor: Insights from the China Essential Tremor Alliance Cohort.
Li M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Analyses of NOTCH3 variants in Chinese patients with clinically diagnosed Alzheimer's disease and frontotemporal dementia.
Nan H et al.
Alzheimer's Research & Therapy, 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
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 2025
Intracerebral hemorrhage in CADASIL.
Hsu SL et al.
Journal of the Chinese Medical Association : Jcma, 2025
Exploring the genetic frontier: Unraveling ANRIL, PAI-1, and HNF1α in stroke progression.
Hamadi A et al.
Plos One, 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
A Search for New Biological Pathways in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy by Proteomic Research.
Menéndez-Valladares P et al.
Journal of Clinical Medicine, 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
Impaired cerebral interstitial fluid dynamics in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy.
Hsu SL et al.
Brain Communications, 2024
Massive Microbleeds in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Ling C et al.
Stroke, 2023
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
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 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
ER stress induced immunopathology involving complement in CADASIL: implications for therapeutics.
Panahi M et al.
Acta Neuropathologica Communications, 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
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease.
Littau JL et al.
Brain Pathology (zurich, Switzerland), 2022
Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Hack RJ et al.
Stroke, 2022
Elderly CADASIL patients with intact neurological status.
Zhang R et al.
Journal of Stroke, 2022
R558C NOTCH3 Mutation in a CADASIL Patient with Intracerebral Hemorrhage: A Case Report with Literature Review.
Hu L et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2022
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.
Almeida MR et al.
Neurogenetics, 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
Neuronal densities and vascular pathology in the hippocampal formation in CADASIL.
Yamamoto Y et al.
Neurobiology of Aging, 2021
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
Ilinca A et al.
Stroke, 2020
Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.
He R et al.
Bmc Neurology, 2020
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Insulin-Independent and Dependent Glucose Transporters in Brain Mural Cells in CADASIL.
Panahi M et al.
Frontiers in Genetics, 2020
Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL.
Rajani RM et al.
Acta Neuropathologica Communications, 2019
Primary involvement of neurovascular coupling in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Jokumsen-Cabral A et al.
Journal of Neurology, 2019
A large number of cerebral microbleeds in CADASIL patients presenting with recurrent seizures: a case report.
Anamnart C et al.
Bmc Neurology, 2019
Severe white matter astrocytopathy in CADASIL.
Hase Y et al.
Brain Pathology (zurich, Switzerland), 2018
Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.
Nannucci S et al.
Plos One, 2018
[CADASIL with clinical manifestations of baldness, lumbago and Parkinson's symptoms].
Ren Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.
Chen S et al.
Cns Neuroscience & Therapeutics, 2017
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Rutten JW et al.
Annals of Clinical and Translational Neurology, 2016
CADASIL: MRI may be normal in the fourth decade of life - a case report.
Samões R et al.
Cephalalgia : an International Journal of Headache, 2016
A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.
Fernández A et al.
Journal of Molecular Neuroscience : Mn, 2015
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.
Bianchi S et al.
Journal of Neurology, 2015
White matter pathology and disconnection in the frontal lobe in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Craggs LJ et al.
Neuropathology and Applied Neurobiology, 2014
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Quantitative vascular pathology and phenotyping familial and sporadic cerebral small vessel diseases.
Craggs LJ et al.
Brain Pathology (zurich, Switzerland), 2013
Brain microvascular accumulation and distribution of the NOTCH3 ectodomain and granular osmiophilic material in CADASIL.
Yamamoto Y et al.
Journal of Neuropathology and Experimental Neurology, 2013
Sporadic hemiplegic migraine with normal imaging as the initial manifestation of CADASIL.
Monteiro C et al.
Cephalalgia : an International Journal of Headache, 2012
Neuropathological correlates of temporal pole white matter hyperintensities in CADASIL.
Yamamoto Y et al.
Stroke, 2009