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
A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.
Shibata Y et al.
Human Genome Variation, 2024
Ruxolitinib in Aicardi-Goutières syndrome.
Mura E et al.
Metabolic Brain Disease, 2021
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C et al.
Pediatric Neurology, 2021
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome.
Garau J et al.
Frontiers in Immunology, 2021
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