标题
Clinical and Genetic Aspects of CADASIL
作者
关键词
-
出版物
Frontiers in Aging Neuroscience
Volume 12, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2020-05-07
DOI
10.3389/fnagi.2020.00091
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The CADASIL Scale-J, A Modified Scale to Prioritize Access to Genetic Testing for Japanese CADASIL-Suspected Patients
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- A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family
- (2019) Liyan Huang et al. NEUROGENETICS
- Patient-Specific iPSC Model of a Genetic Vascular Dementia Syndrome Reveals Failure of Mural Cells to Stabilize Capillary Structures
- (2019) Joseph Kelleher et al. Stem Cell Reports
- Melatonin protects blood-brain barrier integrity and permeability by inhibiting matrix metalloproteinase-9 via the NOTCH3/NF-κB pathway
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- The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant
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- RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis
- (2018) Wing Tung Esther Yeung et al. JOURNAL OF HUMAN GENETICS
- A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically
- (2018) Mao Mukai et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
- (2017) Elena Muiño et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan
- (2017) Ikuko Mizuta et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice
- (2016) Carmen Capone et al. ANNALS OF NEUROLOGY
- Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study
- (2016) Michele Ragno et al. NEUROLOGICAL SCIENCES
- Emerging Evidence for Pathogenesis of Sporadic Cerebral Small Vessel Disease
- (2016) Masafumi Ihara et al. STROKE
- ArchetypalNOTCH3mutations frequent in public exome: implications for CADASIL
- (2016) Julie W. Rutten et al. Annals of Clinical and Translational Neurology
- Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
- (2015) T. Pippucci et al. EMBO Molecular Medicine
- Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014
- (2015) Akihiko Ueda et al. JOURNAL OF NEUROLOGY
- Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles
- (2015) Yi-Chu Liao et al. PLoS One
- Cysteine-Sparing CADASIL Mutations inNOTCH3Show Proaggregatory Properties In Vitro
- (2015) Frank Arne Wollenweber et al. STROKE
- Changing clinical patterns and increasing prevalence in CADASIL
- (2014) F. C. Moreton et al. ACTA NEUROLOGICA SCANDINAVICA
- CADASIL and CARASIL
- (2014) Saara Tikka et al. BRAIN PATHOLOGY
- Interpretation ofNOTCH3mutations in the diagnosis of CADASIL
- (2014) Julie W Rutten et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients
- (2014) Silvia Bianchi et al. JOURNAL OF NEUROLOGY
- Genome-Wide Genotyping Demonstrates a Polygenic Risk Score Associated With White Matter Hyperintensity Volume in CADASIL
- (2014) Christian Opherk et al. STROKE
- Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits
- (2014) Jessica Kast et al. Acta Neuropathologica Communications
- Abnormal recruitment of extracellular matrix proteins by excess Notch3ECD: a new pathomechanism in CADASIL
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- Influence of vascular risk factors and neuropsychological profile on functional performances in CADASIL: results from the MIcrovascular LEukoencephalopathy Study (MILES)
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- Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans
- (2013) Julie W. Rutten et al. HUMAN MUTATION
- Brain Microvascular Accumulation and Distribution of the NOTCH3 Ectodomain and Granular Osmiophilic Material in CADASIL
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- Review: Cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy
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- The minimum prevalence of CADASIL in northeast England
- (2012) S. K. Narayan et al. NEUROLOGY
- Pericytes as a new target for pathological processes in CADASIL
- (2012) Dorota Dziewulska et al. NEUROPATHOLOGY
- Identification of a Genetic Variant Common to Moyamoya Disease and Intracranial Major Artery Stenosis/Occlusion
- (2012) Satoru Miyawaki et al. STROKE
- The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
- (2012) Francesca Pescini et al. STROKE
- Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Affecting an African American Man
- (2011) Soo Jung Lee ARCHIVES OF NEUROLOGY
- Simultaneous Impairment of Intracranial and Peripheral Artery Vasoreactivity in CADASIL Patients
- (2011) Yasuhiro Fujiwara et al. CEREBROVASCULAR DISEASES
- Transendocytosis is impaired in CADASIL-mutant NOTCH3
- (2011) Akiko Watanabe-Hosomi et al. EXPERIMENTAL NEUROLOGY
- Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis
- (2011) Marco Duering et al. HUMAN MOLECULAR GENETICS
- Longitudinal changes of cortical morphology in CADASIL
- (2011) Eric Jouvent et al. NEUROBIOLOGY OF AGING
- Intracortical Infarcts in Small Vessel Disease
- (2011) Eric Jouvent et al. STROKE
- The cell giveth and the cell taketh away: An overview of Notch pathway activation by endocytic trafficking of ligands and receptors
- (2010) Emily B. Pratt et al. ACTA HISTOCHEMICA
- Pathogenesis of CADASIL
- (2010) Anne Joutel BIOESSAYS
- Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype
- (2010) Poneh Adib-Samii et al. STROKE
- Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
- (2009) Saara Tikka et al. BRAIN
- Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain
- (2009) Marie Monet-Leprêtre et al. BRAIN
- Endocytic regulation of Notch signaling
- (2009) Mark E Fortini et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
- (2009) Kenju Hara et al. NEW ENGLAND JOURNAL OF MEDICINE
- Different Clinical Phenotypes in Monozygotic CADASIL Twins With a Novel NOTCH3 Mutation
- (2009) Kati Mykkänen et al. STROKE
- Neuropathological Correlates of Temporal Pole White Matter Hyperintensities in CADASIL
- (2009) Yumi Yamamoto et al. STROKE
- Nephroangiosclerosis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Is NOTCH3 Mutation the Common Culprit?
- (2008) Dominique Guerrot et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain
- (2008) Charles Fouillade et al. HUMAN MUTATION
- Two Japanese CADASIL Families Exhibiting Notch3 Mutation R75P Not Involving Cysteine Residue
- (2008) Toshiki Mizuno et al. INTERNAL MEDICINE
- Impact of MRI markers in subcortical vascular dementia: A multi-modal analysis in CADASIL
- (2008) Anand Viswanathan et al. NEUROBIOLOGY OF AGING
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