• <em>IFIH1</em> and <em>DDX58</em> gene variants in pediatric rheumatic diseases
• A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant
• A zebrafish model of Ifih1-driven Aicardi-Goutieres syndrome reproduces the interferon signature and the exacerbated inflammation of patients
• ADAR1 Zα domain P195A mutation activates the MDA5-dependent RNA-sensing signaling pathway in brain without decreasing overall RNA editing
• Aicardi syndrome in a Nigerian female child: A case report and literature review of a rare neuro-developmental disorder from North-Western Nigeria
• Aicardi Syndrome in an Infant with Migrating Focal Seizure
• Aicardi Syndrome Is a Genetically Heterogeneous Disorder
• Aicardi-Goutières Syndrome (AGS) Presenting with Psoriasis
• Aicardi-Goutières syndrome presenting with pneumocystis jirovecii pneumonia
• Aicardi-Goutieres Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum
• Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel <em>TREX1</em> Mutation
• Aicardi-Goutieres Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation
• Aicardi-Goutières syndrome: A monogenic type I interferonopathy
• An ADAR1 dsRBD3-PKR kinase domain interaction on dsRNA inhibits PKR activation
• Biochemical functions and structure of Caenorhabditis elegans ZK177.8 protein: Aicardi-Goutières syndrome SAMHD1 dNTPase ortholog
• Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutieres Syndrome
• Characterization of the molecular dysfunctions occurring in Aicardi-Goutieres syndrome patients with mutations in ADAR1
• Children with Type 1 Interferonopathy: Commonalities and Diversities in A Large Patient Cohort
• Cognitive and mental health trajectories of COVID-19: Role of hospitalisation and long-COVID symptoms
• Construction and characterization of ribonuclease H2 C subunit-knockout NIH3T3 cells
• Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring
• COVID-19-related multiple inflammatory syndrome-C and pulmonary embolism in Aicardi-Goutries syndrome
• De novo variants in immune regulatory genes in Down syndrome regression disorder
• Development of LB244, an Irreversible STING Antagonist
• Distinct features of ribonucleotides within genomic DNA in Aicardi-Goutières syndrome (AGS)-ortholog mutants of <em>Saccharomyces cerevisiae</em>
• Distinct features of ribonucleotides within genomic DNA in Aicardi-Goutieres syndrome ortholog mutants of Saccharomyces cerevisiae
• Dyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome
• Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study
• Establishment of induced pluripotent stem cell model of Aicardi-Goutières Syndrome mutated in TREX1
• Exploration of Gross Motor Function in Aicardi-Goutières Syndrome
• Generation of a new Adar1p150-/- mouse demonstrates isoform-specific roles in embryonic development and adult homeostasis
• Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G&gt;A (p.G1007R) autosomal dominant pathogenic variant in ADAR1
• Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutieres syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1
• IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases
• IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies
• Impact of Disease-Associated Mutations on the Deaminase Activity of ADAR1
• In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G&gt;T in Indian Population
• Indomethacin restrains cytoplasmic nucleic acid-stimulated immune responses by inhibiting the nuclear translocation of IRF3
• Inhibitors of Stimulator of Interferon Genes from 2019 to July 2022: An Overview of the Structure and Bioactivity
• Interferon signaling gene expression as a diagnostic biomarker for monogenic interferonopathies
• Interferon-α receptor antisense oligonucleotides reduce neuroinflammation and neuropathology in a mouse model of cerebral interferonopathy
• Interferonopathies: From concept to clinical practice
• Intracranial arachnoid cysts
• Intracranial calcifications simulating Aicardi-Goutieres syndrome in PARS2-related mitochondrial disease
• Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report
• Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
• LicochalconeB inhibits cGAS-STING signaling pathway and prevents autoimmunity diseases
• LINE-1: an emerging initiator of cGAS-STING signalling and inflammation that is dysregulated in disease
• Long 3'UTRs predispose neurons to inflammation by promoting immunostimulatory double-stranded RNA formation
• Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population
• Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants
• Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling
• Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling
• Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutieres Syndrome Due to an IFIH1 Mutation
• Neurological findings and a brief review of the current literature in a severe case of Aicardi-Gutieres syndrome due to IFIH1 mutation
• Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutieres Syndrome
• Nonverbal Cognitive Skills in Children With Aicardi Goutieres Syndrome
• NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
• Novel insights into double-stranded RNA-mediated immunopathology
• Nucleotide metabolism, leukodystrophies, and CNS pathology
• Patients on the Transplant Waiting List Have Anti-Swine Leukocyte Antigen Class I Antibodies
• Population-based study of rare epilepsy incidence in a US urban population
• Preimplantation genetic testing for Aicardi-Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth
• Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
• Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up
• Progress in leukodystrophies with zebrafish
• Pseudo-catatonia and Acral Degos-like Lesions: An Atypical Form of the Aicardi-Goutieres Syndrome
• Rapidly progressive moyamoya vasculopathy stabilized with immunotherapy in aicardi-goutières syndrome
• Rosmarinic acid ameliorates autoimmune responses through suppression of intracellular nucleic acid-mediated type I interferon expression
• SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutieres syndrome
• SAMHD1 dysfunction induces IL-34 expression via NF-κB p65 in neuronal SH-SY5Y cells
• Soluble form of the MDA5 protein in human sera
• STING signaling in the brain: Molecular threats, signaling activities, and therapeutic challenges
• Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype
• Successful Electroconvulsive Therapy in Aicardi-Goutieres Syndrome Presenting Psychiatric Symptoms: An Unprecedented Clinical Case
• Synthetic lethal mutants in <em>Escherichia coli</em> define pathways necessary for survival with RNase H deficiency
• Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutieres Syndrome (AGS)
• T-Rex escaped from the cytosolic park: Re-thinking the impact of TREX1 exonuclease deficiencies on genomic stability
• Teaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae
• The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies
• The Sixth Sense: Self-nucleic acid sensing in the brain
• Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib
• Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome
• TREX-1 related Aicardi-Goutieres syndrome improved by Janus kinase inhibitor
• TREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids
• Type I Interferonopathies: A Clinical Review
• Utilizing Infantile Spasm Seizure Activity as a Baseline Vital in the Setting of Acute Pseudomonas aeruginosa Pneumonia