Early-Onset Aicardi-Goutières Syndrome

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

(2014) Gillian I Rice et al.   NATURE GENETICS

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

(2012) Gillian I Rice et al.   NATURE GENETICS

Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up

(2009) C. Uggetti et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Aicardi-Goutieres syndrome

(2009) S. Orcesi et al.   BRITISH MEDICAL BULLETIN

Aicardi-Goutières syndrome: description of a late onset case

(2009) Stefano D’Arrigo et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

(2009) Yanick J Crow et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2009) Gillian I Rice et al.   NATURE GENETICS