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Title
Interpretation ofNOTCH3mutations in the diagnosis of CADASIL
Authors
Keywords
-
Journal
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
Volume 14, Issue 5, Pages 593-603
Publisher
Informa UK Limited
Online
2014-05-21
DOI
10.1586/14737159.2014.922880
References
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Note: Only part of the references are listed.- 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
- (2014) Emmanuel Cognat et al. STROKE
- Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
- (2013) John A. Martignetti et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Abnormal recruitment of extracellular matrix proteins by excess Notch3ECD: a new pathomechanism in CADASIL
- (2013) Marie Monet-Leprêtre et al. BRAIN
- Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans
- (2013) Julie W. Rutten et al. HUMAN MUTATION
- A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain
- (2013) Bing-Wen Soong et al. Journal of the Chinese Medical Association
- The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL
- (2013) Silvia Bianchi et al. NEUROBIOLOGY OF AGING
- Homozygosity and severity of phenotypic presentation in a CADASIL family
- (2013) Claudia Vinciguerra et al. NEUROLOGICAL SCIENCES
- “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
- (2013) Michele Ragno et al. NEUROLOGICAL SCIENCES
- Role of Electron Microscopy in the Diagnosis of Cadasil Syndrome: A Study of 32 Patients
- (2013) Manrico Morroni et al. PLoS One
- NOTCH3 Variants and Risk of Ischemic Stroke
- (2013) Owen A. Ross et al. PLoS One
- A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
- (2012) Fan Weiming et al. JOURNAL OF CLINICAL NEUROSCIENCE
- Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene
- (2012) B. Roy et al. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
- The minimum prevalence of CADASIL in northeast England
- (2012) S. K. Narayan et al. NEUROLOGY
- Skin and Sural Nerve Biopsies: Ultrastructural Findings in the First Genetically Confirmed Cases of CADASIL in Serbia
- (2012) Vesna Lackovic et al. ULTRASTRUCTURAL PATHOLOGY
- Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Affecting an African American Man
- (2011) Soo Jung Lee ARCHIVES OF 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
- NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL
- (2010) Z. Wang 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
- Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
- (2009) Saara Tikka et al. BRAIN
- Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms
- (2009) M. K. Liem et al. JOURNAL OF NEUROLOGY
- CADASIL
- (2009) Hugues Chabriat et al. LANCET NEUROLOGY
- CYSTEINE-SPARING NOTCH3 MUTATIONS: CADASIL OR CADASIL VARIANTS?
- (2009) A. Quattrone et al. NEUROLOGY
- Apathy: A major symptom in CADASIL
- (2009) S. Reyes et al. NEUROLOGY
- Case 12-2009
- (2009) Steven D. Brass 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
- 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
- CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene
- (2008) C. Ungaro et al. JOURNAL OF NEUROSCIENCE RESEARCH
- CYSTEINE-SPARING NOTCH3 MUTATIONS: CADASIL OR CADASIL VARIANTS?
- (2008) R. Scheid et al. NEUROLOGY
- First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
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- An overview of Notch3 function in vascular smooth muscle cells
- (2007) Tao Wang et al. PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY
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