Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.
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| Title: | Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison. |
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| Authors: | Marinella G; Department of Developmental Neurosciences, IRCCS Foundation Stella Maris, Calambrone, Pisa, Italy; Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, 50135 Florence, Italy., Vaia Y; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Politano D; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Galli J; Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Nicita F; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy., Popple MM; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Pichiecchio A; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy., Pasquariello R; Department of Developmental Neurosciences, IRCCS Foundation Stella Maris, Calambrone, Pisa, Italy., Parazzini C; Pediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy., Pinelli L; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST Spedali Civili of Brescia, Italy., Longo D; Functional and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Fazzi E; Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Orcesi S; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Tonduti D; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Battini R; Department of Developmental Neurosciences, IRCCS Foundation Stella Maris, Calambrone, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. Electronic address: rbattini@fsm.unipi.it., Orsini A; Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, 56121 Pisa, Italy., Zunica F; Department of Pediatrics, Buzzi Children's Hospital, University of Milan, Milan, Italy., Arrigoni F; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Pediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy., Nicolosi S; Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy., Insalaco A; Division of Rheumatology, ERN RITA Center, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cattalini M; Pediatrics Clinic, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy., Cordelli DM; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; UOC Neuropsychiatry of the Pediatric Age, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy., Soliani L; UOC Neuropsychiatry of the Pediatric Age, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy., Fetta A; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; UOC Neuropsychiatry of the Pediatric Age, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy., Operto FF; Department of Health Sciences, 'Magna Graecia' University, Catanzaro, Italy., Amadori E; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Mancardi MM; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Volpi S; Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa, Genova, Italy., Orsi SM; Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa, Genova, Italy. |
| Corporate Authors: | AGS Study Group |
| Source: | Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109907. Date of Electronic Publication: 2026 Mar 19. |
| Publication Type: | Journal Article; Multicenter Study; Observational Study |
| Journal Info: | Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41871482 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Marinella+G%22">Marinella G</searchLink>; Department of Developmental Neurosciences, IRCCS Foundation Stella Maris, Calambrone, Pisa, Italy; Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, 50135 Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Vaia+Y%22">Vaia Y</searchLink>; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Politano+D%22">Politano D</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Galli+J%22">Galli J</searchLink>; Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Nicita+F%22">Nicita F</searchLink>; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Popple+MM%22">Popple MM</searchLink>; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Pichiecchio+A%22">Pichiecchio A</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Pasquariello+R%22">Pasquariello R</searchLink>; Department of Developmental Neurosciences, IRCCS Foundation Stella Maris, Calambrone, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Parazzini+C%22">Parazzini C</searchLink>; Pediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pinelli+L%22">Pinelli L</searchLink>; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST Spedali Civili of Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Longo+D%22">Longo D</searchLink>; Functional and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Severino+M%22">Severino M</searchLink>; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Fazzi+E%22">Fazzi E</searchLink>; Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Orcesi+S%22">Orcesi S</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Tonduti+D%22">Tonduti D</searchLink>; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Battini+R%22">Battini R</searchLink>; Department of Developmental Neurosciences, IRCCS Foundation Stella Maris, Calambrone, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. Electronic address: rbattini@fsm.unipi.it.<br /><searchLink fieldCode="AU" term="%22Orsini+A%22">Orsini A</searchLink>; Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, 56121 Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Zunica+F%22">Zunica F</searchLink>; Department of Pediatrics, Buzzi Children's Hospital, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Arrigoni+F%22">Arrigoni F</searchLink>; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Pediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Nicolosi+S%22">Nicolosi S</searchLink>; Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Insalaco+A%22">Insalaco A</searchLink>; Division of Rheumatology, ERN RITA Center, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Cattalini+M%22">Cattalini M</searchLink>; Pediatrics Clinic, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Cordelli+DM%22">Cordelli DM</searchLink>; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; UOC Neuropsychiatry of the Pediatric Age, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Soliani+L%22">Soliani L</searchLink>; UOC Neuropsychiatry of the Pediatric Age, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Fetta+A%22">Fetta A</searchLink>; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; UOC Neuropsychiatry of the Pediatric Age, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Operto+FF%22">Operto FF</searchLink>; Department of Health Sciences, 'Magna Graecia' University, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Amadori+E%22">Amadori E</searchLink>; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Mancardi+MM%22">Mancardi MM</searchLink>; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Volpi+S%22">Volpi S</searchLink>; Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Orsi+SM%22">Orsi SM</searchLink>; Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa, Genova, Italy. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22AGS+Study+Group%22">AGS Study Group</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109907. <i>Date of Electronic Publication: </i>2026 Mar 19. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Multicenter Study; Observational Study – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41871482 |
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