COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy-Reference-Cited by-同舟云学术

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COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

Published:2014-01-05 Issue:3 Volume:261 Page:500-503
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Gunda Bence,Mine Manuele,Kovács Tibor,Hornyák Csilla,Bereczki Dániel,Várallyay György,Rudas Gábor,Audrezet Marie-Pierre,Tournier-Lasserve Elisabeth

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-013-7224-4.pdf

Reference11 articles.

1. Kuo DS, Labelle-Dumais C, Gould DB (2012) COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet 21:R97–R110

2. Vahedi K, Alamowitch S (2011) Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 24:63–68

3. Gould DB, Phalan FC, van Mil SE et al (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:1489–1496

4. Lanfranconi S, Markus HS (2010) COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke 41:e513–e518

5. Vahedi K, Kubis N, Boukobza M et al (2007) COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. Stroke 38:1461–1464

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1. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-17

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3. Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review;Neurology International;2024-02-01

4. The Genetics of Cerebral Microbleeds;Stroke Genetics;2024

5. NOTCH2NLCexpanded GGC repeats in patients with cerebral small vessel disease;Stroke and Vascular Neurology;2022-10-07

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