Associated Papers
CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.
Wang Y et al.
Frontiers in Neurology, 2025
Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.
Cao Y et al.
International Journal of Molecular Sciences, 2024
Genomic analysis of spermatocytic tumors demonstrates recurrent molecular alterations in cases with malignant clinical behavior.
Gupta S et al.
The Journal of Pathology, 2024
Somatic mutations in facial skin from countries of contrasting skin cancer risk.
King C et al.
Nature Genetics, 2023
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.
Juhosová M et al.
Neurogenetics, 2023
Case Report: Progressive Asymmetric Parkinsonism Secondary to CADASIL Without Dementia.
Guo W et al.
Frontiers in Neurology, 2021
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Notch3 protein expression in skin fibroblasts from CADASIL patients.
Qualtieri A et al.
Journal of the Neurological Sciences, 2018
A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?
Schubert V et al.
Journal of Neurology, 2018
Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.
Chen S et al.
Cns Neuroscience & Therapeutics, 2017
Genotype-phenotype correlations of cysteine replacement in CADASIL.
Matsushima T et al.
Neurobiology of Aging, 2017
NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients.
Yoon CW et al.
Neurobiology of Aging, 2015
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Pippucci T et al.
Embo Molecular Medicine, 2015
Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.
Moccia M et al.
Neurobiology of Aging, 2015
Are granular osmiophilic material deposits an epiphenomenon in CADASIL?
Erro R et al.
Folia Neuropathologica, 2015
Letter by Moccia et al regarding article, "Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism".
Moccia M et al.
Stroke, 2014
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten JW et al.
Human Mutation, 2013
Ultrastructure of granular osmiophilic material deposits (GOM) in arterioles of CADASIL patients.
Lewandowska E et al.
Folia Neuropathologica, 2011