ArticleJournal of clinical medicine2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
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In one paragraph
Article in Journal of clinical medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 15% of its field
What it found
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 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
- Type I Interferonopathies: Fifteen Years On, From Concept to Therapeutic Perspectives.Current rheumatology reports · 2026Review
- Deep Brain Stimulation in a Child with Aicardi-Goutières Syndrome-7 (AGS7): A Case Report and Literature Review.Movement disorders clinical practice · 2025Article
- 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
- Article
- Molecular basis of autoimmune disease protection by MDA5 variants.Cell reports · 2025Article
- MDA5 variants trade antiviral activity for protection from autoimmune disease.BMC medical genomics · 2025Article
- The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.Developmental neurobiology · 2025Review
- The role of ADAR1 in human pathophysiology.Frontiers in cell and developmental biology · 2025Review
- Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.Nature reviews. Rheumatology · 2025Review
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
- A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.Human genome variation · 2024Article
- IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.JCI insight · 2024Article
- SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.American journal of medical genetics. Part A · 2024Article
- Rapidly progressive moyamoya vasculopathy stabilized with immunotherapy in aicardi-goutières syndrome.Journal of neurology · 2024Article
- Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.Clinical case reports · 2023Article
- TREX1 cytosolic DNA degradation correlates with autoimmune disease and cancer immunity.Clinical and experimental immunology · 2023Article
- Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.Frontiers in endocrinology · 2023Article
- Characterization of a mutantFrontiers in immunology · 2023Article
- Characterization of Mitochondrial Alterations in Aicardi-Goutières Patients Mutated inInternational journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
39 authors at 19 institutions in 4 countries.
Jessica GarauDepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy. jessica.garau@mondino.it.
Vanessa CavalleraUnit of Child and Adolescence Neurology, IRCCS Mondino Foundation, 27100 Pavia, Italy. cavallerav@gmail.com.
Marialuisa ValenteGenomic and Post-Genomic Center, IRCCS Mondino Foundation, 27100 Pavia, Italy. valentemarialuisa80@gmail.com.
Davide TondutiPediatric Neurology Unit, V. Buzzi Children's Hospital, 20154 Milan, Italy. davide.tonduti@asst-fbf-sacco.it.ORCID 0000-0001-9371-7454
Daisy SprovieroGenomic and Post-Genomic Center, IRCCS Mondino Foundation, 27100 Pavia, Italy. daisy.sproviero@mondino.it.
Susanna ZuccaGenomic and Post-Genomic Center, IRCCS Mondino Foundation, 27100 Pavia, Italy. susanna.zucca@unipv.it.
Domenica BattagliaChild Neuropsichiatry, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Roma, Italy. domenicaimmacolata.battaglia@unicatt.it.
Roberta BattiniDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy. r.battini@inpe.unipi.it.
Enrico BertiniUnit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. ebertini@gmail.com.
Silvia CappaneraS.O.D. Neuropsichiatria Infantile, Ospedali Riuniti "G. Salesi", 60123 Ancona, Italy. silvia.cappanera@gmail.com.
Luisa ChiappariniNeuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. luisa.chiapparini@istituto-besta.it.
Camilla CrasàGenomic and Post-Genomic Center, IRCCS Mondino Foundation, 27100 Pavia, Italy. camillacrasa@tiscali.it.
Giovanni CrichiuttiCrichiutti G. Clinica Pediatrica ASUIUD, 33100 Udine, Italy. crichiutti.giovanni@aoud.sanita.fvg.it.
Elvio Dalla GiustinaChild Neurology Unit, IRCCS, Santa Maria Nuova Hospital, 42123 Reggio Emilia, Italy. dellagiustina.elvio@asmn.re.it.
Stefano D'ArrigoDevelopmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. Stefano.Darrigo@istituto-besta.it.
Valentina De GiorgisUnit of Child and Adolescence Neurology, IRCCS Mondino Foundation, 27100 Pavia, Italy. valentina.degiorgis@mondino.it.
Micaela De SimoneChild Neurology and Psychiatry Unit, ASST Spedali Civili of Brescia, 25123 Brescia, Italy. micaela.desimone@gmail.com.
Jessica GalliChild Neurology and Psychiatry Unit, ASST Spedali Civili of Brescia, 25123 Brescia, Italy. jessica.galli@unibs.it.
Roberta La PianaDepartment of Neuroradiology andLaboratory of Neurogenetics of Motion, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A2B4, Canada. roberta.lapiana@mail.mcgill.ca.
Tullio MessanaChild Neurology Unit, IRCCS Istituto delle Scienze Neurologiche, 40139 Bologna, Italy. tullio.messana@ausl.bologna.it.
Isabella MoroniDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. Isabella.Moroni@istituto-besta.it.
Nardo NardocciDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. nardo.nardocci@istituto-besta.it.
Celeste PanteghiniMedical Genetics and Neurogenetics Unit, Movement Disorders Diagnostic Section, Fondazione Irccs IstitutoNeurologico Carlo Besta, 20133 Milan, Italy. celeste.panteghini@istituto-besta.it.
Cecilia ParazziniDepartment of Pediatric Radiology and Neuroradiology, V. Buzzi Children's Hospital, 20154 Milan, Italy. cecilia.parazzini@asst-fbf-sacco.it.
Anna PichiecchioDepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy. anna.pichiecchio@mondino.it.
Antonella PiniChild Neurology Unit, IRCCS Istituto delle Scienze Neurologiche, 40139 Bologna, Italy. antonella.pini@isnb.it.
Federica RicciUnit of Child Neurology and Psychiatry, University Hospital Città della Salute e della Scienza, 10126 Turin, Italy. federica.ricci@unito.it.
Veronica SalettiDevelopmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. veronica.saletti@istituto-besta.it.
Elisabetta SalvaticiClinical Department of Pediatrics San Paolo Hospital - ASST Santi Paolo Carlo, 20142 Milano, Italy. elisabetta.salvatici@ao-sanpaolo.it.
Filippo M SantorelliMolecular medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy. filippo.santorelli@fsm.unipi.it.
Stefano SartoriPaediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padua, 35128 Padua, Italy. stefano.sartori@unipd.it.
Francesca TinelliDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy. francesca.tinelli@inpe.unipi.it.
Carla UggettiNeuroradiology Unit, Department of Radiology, ASST Santi Paolo e Carlo, San Carlo Borromeo Hospital, 20153 Milan, Italy. carla.uggetti@gmail.com.
Edvige VeneselliChild Neuropsychiatry Unit, IRCCS Giannina Gaslini Institute DINOGMI, University of Genoa, 16147 Genoa, Italy. edvigeveneselli@gaslini.org.
Giovanna ZorziDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. Giovanna.Zorzi@istituto-besta.it.
Barbara GaravagliaMedical Genetics and Neurogenetics Unit, Movement Disorders Diagnostic Section, Fondazione Irccs IstitutoNeurologico Carlo Besta, 20133 Milan, Italy. barbara.garavaglia@istituto-besta.it.ORCID 0000-0003-4323-9145
Elisa FazziChild Neurology and Psychiatry Unit, ASST Spedali Civili of Brescia, 25123 Brescia, Italy. elisa.fazzi@unibs.it.
Simona OrcesiDepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy. simona.orcesi@mondino.it.
Cristina CeredaGenomic and Post-Genomic Center, IRCCS Mondino Foundation, 27100 Pavia, Italy. cristina.cereda@mondino.it.
Fondazione IRCCS Istituto Neurologico Carlo Besta · ITFoundation Center · USAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITFondazione Stella Maris · ITUniversity of Pavia · ITIstituto delle Scienze Neurologiche di Bologna · ITOspedale dei Bambini Vittore Buzzi · ITAOL (United States) · USAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITBambino Gesù Children's Hospital · ITCenter for Genomic Science · ITIstituto Giannina Gaslini · ITMontreal Neurological Institute and Hospital · CAOspedale San Carlo · ITOspedale Santa Maria della Misericordia di Udine · ITOspedali Riuniti di Ancona · ITSanta Maria Nuova Hospital · ITUniversità Cattolica del Sacro Cuore · ITUniversity of Padua · IT
Funding
Ministero della Salute RC 2017-2019
Abstract
Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterized by cerebral calcification, leukodystrophy, and increased expression of interferon-stimulated genes (ISGs). Up to now, seven genes (
Indexed as
Aicardi-Goutières SyndromeInterferon signatureNext Generation Sequencing
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