Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome-Reference-Cited by-同舟云学术

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

Published:2015-11-18 Issue:1 Volume:86 Page:28-35
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

La Piana Roberta,Uggetti Carla,Roncarolo Federico,Vanderver Adeline,Olivieri Ivana,Tonduti Davide,Helman Guy,Balottin Umberto,Fazzi Elisa,Crow Yanick J.,Livingston John,Orcesi Simona

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference33 articles.

1. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

2. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

3. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

4. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

5. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

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