Associated Papers
Pharmacological evaluation of drug therapies in Aicardi-Goutières syndrome: insights from patient-derived neural stem cells.
Braidotti S et al.
Frontiers in Pharmacology, 2025
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
38964834 (PubMed )
Supplement: jmg-2024-109950supp002.xlsx › __1
Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.
Lu M et al.
American Journal of Medical Genetics. Part A, 2021
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI et al.
Human Mutation, 2020
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.
Masneri S et al.
Stem Cell Research, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J et al.
Journal of Clinical Medicine, 2019
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.
Galli J et al.
Medicine, 2018
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
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