Associated Papers
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 2025
Synergistic effects of mutation and glycosylation on disease progression.
Suzuki S et al.
Frontiers in Molecular Biosciences, 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
The N-acetylglucosaminyltransferase Radical fringe contributes to defects in JAG1-dependent turnover and signaling of NOTCH3 CADASIL mutants.
Suzuki S et al.
The Journal of Biological Chemistry, 2024
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
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Gravesteijn G et al.
Human Molecular 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
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
Maksemous N et al.
Human Genomics, 2016
Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.
Wollenweber FA et al.
Stroke, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.
Roy B et al.
Mutation Research, 2012
Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.
Meng H et al.
Plos One, 2012
Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis.
Duering M et al.
Human Molecular Genetics, 2011
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka.
De Silva KR et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2009
CADASIL mutations enhance spontaneous multimerization of NOTCH3.
Opherk C et al.
Human Molecular Genetics, 2009
Genetics of ischemic stroke: inheritance of a sporadic disorder.
Ross OA et al.
Current Neurology and Neuroscience Reports, 2009
Physiology and pathology of notch signalling system.
Bianchi S et al.
Journal of Cellular Physiology, 2006
CADASIL: a critical look at a Notch disease.
Louvi A et al.
Developmental Neuroscience, 2006
CADASIL mutations impair Notch3 glycosylation by Fringe.
Arboleda-Velasquez JF et al.
Human Molecular Genetics, 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
CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk.
Peters N et al.
Experimental Cell Research, 2004
The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.
Singhal S et al.
Brain : a Journal of Neurology, 2004
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL.
Dichgans M et al.
Neurology, 2001
An overview of Notch3 function in vascular smooth muscle cells.
Wang T et al.
Progress in Biophysics and Molecular Biology, 0