Aicardi-Goutières syndrome: unusual neuro-radiological manifestations-Reference-Cited by-同舟云学术

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations

Published:2017-03-23 Issue:3 Volume:32 Page:679-683
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Abdel-Salam Ghada M. H.,Abdel-Hamid Mohamed S.,Mohammad Shaimaa A.,Abdel-Ghafar Sherif F.,Soliman Doaa R.,EL-Bassyouni Hala T.,Effat Laila,Zaki Maha S.

Funder

National Research Centre

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-017-9993-4/fulltext.html

Reference18 articles.

1. Abdel-Salam GMH, El-Kamah GY, Rice GI et al (2010) Chilblains as a diagnostic sign of Aicardi-Goutières syndrome. Neuropediatrics 41:18–23. doi: 10.1055/s-0030-1255059

2. Aicardi J, Goutierés F (1984) A progressive familial encephalopathy in infancy, with calcification of the basal ganglia, and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49–54

3. Crow YJ, Leitch A, Hayward BE et al (2006) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet 38:910–916

4. Crow YJ, Chase DS, Lowenstein Schmidt J et al (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A 167A:296–312. doi: 10.1002/ajmg.a.36887

5. La Piana R, Uggetti C, Roncarolo F et al (2016) Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome. Neurology 86:28–35. doi: 10.1212/WNL.0000000000002228

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