Associated Papers
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 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
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
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
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
Adult-Onset Genetic Leukoencephalopathies With Movement Disorders.
Fu MH et al.
Journal of Movement Disorders, 2023
Intravenous thrombolysis in CADASIL: report of two cases and a systematic review.
Pescini F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Case report: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) as a risk factor for central serous chorioretinopathy.
Pazzaglia A et al.
Frontiers in Neurology, 2022
Association between NOTCH3 gene and Parkinson's disease based on whole-exome sequencing.
Zeng Q et al.
Frontiers in Aging Neuroscience, 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 and Genotype-Phenotype Features in Chinese CADASIL Patients.
Hu Y et al.
Frontiers in Genetics, 2021
Case Report: Progressive Asymmetric Parkinsonism Secondary to CADASIL Without Dementia.
Guo W et al.
Frontiers in Neurology, 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
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
CADASIL: Ultrastructural insights into the morphology of granular osmiophilic material.
Lorenzi T et al.
Brain and Behavior, 2017
Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study.
Ragno M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL.
Gesierich B et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2016
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Pippucci T et al.
Embo Molecular Medicine, 2015
Frequency and distribution of Notch mutations in tumor cell lines.
Mutvei AP et al.
Bmc Cancer, 2015
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.
Bianchi S et al.
Journal of Neurology, 2015
Two novel mutations in NOTCH3 gene causes cerebral autosomal dominant arteriopathy with subcritical infarct and leucoencephalopathy in two Chinese families.
Zhu Y et al.
International Journal of Clinical and Experimental Pathology, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.
Opherk C et al.
Stroke, 2014
"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation.
Ragno M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013
Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation.
Ragno M et al.
Stroke, 2013
Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients.
Morroni M et al.
Plos One, 2013
Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up.
Ragno M et al.
Histology and Histopathology, 2012
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Testi S et al.
Journal of the Neurological Sciences, 2012
Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience.
Donnini I et al.
The Journal of Headache and Pain, 2012
Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation.
Ragno M et al.
Neuroscience Letters, 2012
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL).
Ragno M et al.
Neurogenetics, 2011
NOTCH3 gene mutations in subjects clinically suspected of CADASIL.
Mosca L et al.
Journal of the Neurological Sciences, 2011
High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Cappelli A et al.
Neuroscience Letters, 2009
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
Ungaro C et al.
Journal of Neuroscience Research, 2009
Genetics of ischemic stroke: inheritance of a sporadic disorder.
Ross OA et al.
Current Neurology and Neuroscience Reports, 2009
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
Fouillade C et al.
Human Mutation, 2008
Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration.
Manganelli F et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2008
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene.
Ragno M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006
Physiology and pathology of notch signalling system.
Bianchi S et al.
Journal of Cellular Physiology, 2006
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Rufa A et al.
Stroke, 2005
The spectrum of mutations for CADASIL diagnosis.
Federico A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005
The spectrum of Notch3 mutations in 28 Italian CADASIL families.
Dotti MT et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005