Mutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis
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Title
Mutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis
Authors
Keywords
CADASIL, <em class=EmphasisTypeItalic >NOTCH3</em> gene, Mutations, Phenotypical spectrum
Journal
JOURNAL OF MOLECULAR NEUROSCIENCE
Volume 54, Issue 4, Pages 723-729
Publisher
Springer Nature
Online
2014-05-09
DOI
10.1007/s12031-014-0311-x
References
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Note: Only part of the references are listed.- A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
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- Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
- (2012) S. Testi et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
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- Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Affecting an African American Man
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- Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models
- (2011) Giuseppe Di Maio et al. JOURNAL OF CELLULAR PHYSIOLOGY
- CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation
- (2011) P. Bentley et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- NOTCH3 gene mutations in subjects clinically suspected of CADASIL
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- (2010) Rita J. Guerreiro et al. NEUROBIOLOGY OF AGING
- Review: Molecular genetics and pathology of hereditary small vessel diseases of the brain
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- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male
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- Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients
- (2009) L. Pantoni et al. NEUROLOGY
- CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene
- (2008) C. Ungaro et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene
- (2008) L. Pradotto et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
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