A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL
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Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference12 articles.
1. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;H Chabriat;Lancet,1995
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3. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12;E Tournier-Lasserve;Nat Genet,1993
4. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia;A Joutel;Nature,1996
5. Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant;A Bersano;Funct Neurol,2012
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1. Mutant NOTCH3ECD Triggers Defects in Mitochondrial Function and Mitophagy in CADASIL Cell Models;Journal of Alzheimer's Disease;2024-08-13
2. Association of Rare NOTCH3 Variants With Prevalent and Incident Stroke and Dementia in the General Population;Journal of the American Heart Association;2024-02-20
3. Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations;PLOS ONE;2020-06-18
4. A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family;neurogenetics;2019-11-13
5. Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome;International Journal of Molecular Sciences;2019-09-03
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