First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family-Reference-Cited by-同舟云学术

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First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family

Published:2011-03-16 Issue:9 Volume:258 Page:1632-1636
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Valenti Raffaella,Bianchi Silvia,Pescini Francesca,D’Eramo Camilla,Inzitari Domenico,Dotti Maria Teresa,Pantoni Leonardo

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-011-5983-3.pdf

Reference29 articles.

1. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707–710

2. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) CADASIL. Lancet Neurol 8:643–653

3. Singhal S, Bevan S, Barrick T, Rich P, Markus HS (2004) The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain 127:2031–2038

4. Rufa A, De Stefano N, Dotti MT, Bianchi S, Sicurelli F, Stromillo ML, D’Aniello B, Federico A (2004) Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Arch Neurol 61:577–580

5. Choi JC, Kang SY, Kang JH, Park JK (2006) Intracerebral hemorrhages in CADASIL. Neurology 67:2042–2044

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Chorea Associated with Genetic‐Confirmed CADASIL;Movement Disorders Clinical Practice;2023-08-08

2. A novel report of Cys1298Gly mutation in exon 24 of NOTCH3 gene in a Chinese family with CADASIL;Journal of Stroke and Cerebrovascular Diseases;2023-08

3. Association between NOTCH3 gene and Parkinson’s disease based on whole-exome sequencing;Frontiers in Aging Neuroscience;2022-12-09

4. Neuroimaging Pearls from the MDS Congress Video Challenge. Part 1: Genetic Disorders;Movement Disorders Clinical Practice;2022-02-03

5. Case Report: Progressive Asymmetric Parkinsonism Secondary to CADASIL Without Dementia;Frontiers in Neurology;2022-01-10

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