Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-021-00674-1.pdf
Reference47 articles.
1. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) CADASIL. Lancet Neurol 8:643–653
2. Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, Federico A, Dichgans M, Markus HS, Chabriat H (2019) 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. Genet Med 21(3):676–682
3. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cecillion M, Marechal E (1997) Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a Mendelian condition causing stroke and vascular dementia. Ann N Y Acad Sci 826(1):213–217
4. Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssiere C, Cruaud C, Maciazek J, Weissenbach J, Bousser MG, Bach JF, Tournier-Lasserve E (1997) Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 350(9090):1511–1515
5. Mukai M, Mizuta I, Watanabe-Hosomi A, Koizumi T, Matsuura J, Hamano A, Tomimoto H, Mizuno T (2020) Genotype–phenotype correlations and effect of mutation location in Japanese CADASIL patients. J Hum Genet 65(8):637–646
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3. Prevalence, clinical characteristics, and risk factors of intracerebral haemorrhage in CADASIL: a case series and systematic review;Journal of Neurology;2024-01-13
4. Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review;Cerebral Circulation - Cognition and Behavior;2024
5. Modifiable vascular risk factors for outcomes in patients with CADASIL: A literature review and meta-analysis of cross-sectional analyzes;Journal of Stroke and Cerebrovascular Diseases;2023-12
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