ArticleJournal of child neurology2020
Developmental Outcomes of Aicardi Goutières Syndrome.
Article in Journal of child neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.Annals of the rheumatic diseases · 2022Pooled it
- Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).Molecular genetics and metabolism · 2026Article
- Neurodevelopmental comorbidities in juvenile systemic autoimmune and autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- Design of a Pediatric Low Motor Function Item Battery in leukodystrophies.Molecular genetics and metabolism · 2026Article
- A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).Molecular genetics and metabolism · 2026Article
- Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.Pediatric neurology · 2025Article
- Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.Journal of child neurology · 2025Article
- Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.Annals of the Child Neurology Society · 2025Article
- Talents Amidst Neurological Impairment; an Interesting Case of Aicardi-Goutières Syndrome.Clinical case reports · 2025Article
- The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.Molecular genetics and metabolism · 2025Article
- Delayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report.Cureus · 2025Article
- The intersection of TREX1, cGAS, STING and the DNA damage theory of aging.Frontiers in aging · 2025Review
- Article
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
- Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.Pediatric investigation · 2024Article
- Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.Molecular genetics and metabolism · 2024Article
- Article
- Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.Biochemical genetics · 2024Article
- Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.Molecular genetics and metabolism · 2024Review
- Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).Molecular genetics and metabolism · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
Aicardi Goutières syndrome is a monogenic interferonopathy caused by abnormalities in the intracellular nucleic acid sensing machinery (
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.