Associated Papers
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Gabaldon-Albero A et al.
Pediatric Rheumatology Online Journal, 2024
Infantile-onset generalized dystonia with pigmentary mosaicism in ADAR gene mutation: A novel neurocutaneous phenotype.
Padmanabha H et al.
Parkinsonism & Related Disorders, 2023
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
Dragoni F et al.
Frontiers in Endocrinology, 2023
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C et al.
Pediatric Neurology, 2021
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation.
Cattalini M et al.
Frontiers in Pediatrics, 2021
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI et al.
Neuropediatrics, 2017
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
25604658 (PubMed )
Supplement: supplement_1.docx
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).
La Piana R et al.
American Journal of Medical Genetics. Part A, 2014
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI et al.
Nature Genetics, 2012
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