ArchetypalNOTCH3mutations frequent in public exome: implications for CADASIL
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Title
ArchetypalNOTCH3mutations frequent in public exome: implications for CADASIL
Authors
Keywords
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Journal
Annals of Clinical and Translational Neurology
Volume 3, Issue 11, Pages 844-853
Publisher
Wiley
Online
2016-09-28
DOI
10.1002/acn3.344
References
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Related references
Note: Only part of the references are listed.- On the Diagnosis of CADASIL
- (2017) Israel Ampuero et al. JOURNAL OF ALZHEIMERS DISEASE
- Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
- (2016) Hussam Abou Al-Shaar et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Quantifying prion disease penetrance using large population control cohorts
- (2016) Eric Vallabh Minikel et al. Science Translational Medicine
- NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients
- (2015) Cindy W. Yoon et al. NEUROBIOLOGY OF AGING
- Changing clinical patterns and increasing prevalence in CADASIL
- (2014) F. C. Moreton et al. ACTA NEUROLOGICA SCANDINAVICA
- Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients
- (2014) Xavier Ayrignac et al. BRAIN
- Interpretation ofNOTCH3mutations in the diagnosis of CADASIL
- (2014) Julie W Rutten et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China
- (2014) Xinzhen Yin et al. INTERNATIONAL JOURNAL OF NEUROSCIENCE
- CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients
- (2014) Silvia Bianchi et al. JOURNAL OF NEUROLOGY
- 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
- (2013) Marie Monet-Leprêtre et al. BRAIN
- Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- (2013) Young-Eun Kim et al. NEUROBIOLOGY OF AGING
- The minimum prevalence of CADASIL in northeast England
- (2012) S. K. Narayan et al. NEUROLOGY
- Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease
- (2011) H. Schmidt et al. BRAIN
- Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis
- (2011) Marco Duering et al. HUMAN MOLECULAR GENETICS
- CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation
- (2011) P. Bentley et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype
- (2010) Poneh Adib-Samii et al. STROKE
- The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age
- (2009) Yi-Chung Lee et al. JOURNAL OF NEUROLOGY
- Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese
- (2009) Y.-C. Lee et al. JOURNAL OF NEUROLOGY
- CADASIL
- (2009) Hugues Chabriat et al. LANCET NEUROLOGY
- MRI correlates of cognitive decline in CADASIL: A 7-year follow-up study
- (2009) M. K. Liem et al. NEUROLOGY
- A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient
- (2007) Francesca Pescini et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
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