Associated Papers
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P et al.
Ebiomedicine, 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
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.
Al-Amrani F et al.
Pediatric 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
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
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
Cerebrovascular disorders associated with genetic lesions.
Karschnia P et al.
Cellular and Molecular Life Sciences : Cmls, 2019
Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.
Nannucci S et al.
Plos One, 2018
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
CADASIL: Ultrastructural insights into the morphology of granular osmiophilic material.
Lorenzi T et al.
Brain and Behavior, 2017
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.
Bianchi S et al.
Journal of Neurology, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Homozygosity and severity of phenotypic presentation in a CADASIL family.
Vinciguerra C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients.
Morroni M et al.
Plos One, 2013
CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells.
Tikka S et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 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
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL).
Ragno M et al.
Neurogenetics, 2011
Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.
Arboleda-Velasquez JF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study.
Rufa A et al.
Cerebrovascular Diseases (basel, Switzerland), 2011
High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities.
Bianchi S et al.
Journal of Neurology, 2010
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
Plasma levels of asymmetric dimethylarginine in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy.
Rufa A et al.
Cerebrovascular Diseases (basel, Switzerland), 2008
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation.
Ragno M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2007
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