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1دورية أكاديمية
المؤلفون: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorders, Aicardi-Goutières syndrome (AGS), hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1376447/fullTest; https://doaj.org/toc/1664-2295Test
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2دورية أكاديمية
المؤلفون: Xinfeng Guo, Richard A. Steinman, Yi Sheng, Guodong Cao, Clayton A. Wiley, Qingde Wang
المصدر: Journal of Neuroinflammation, Vol 19, Iss 1, Pp 1-16 (2022)
مصطلحات موضوعية: Aicardi–Goutières syndrome (AGS), Neurodegeneration, Neuroinflammation, Innate immunity, ADAR1, Gene mutation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1742-2094Test
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3رسالة جامعيةAicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test
المؤلفون: 千住 , 千佳子
مصطلحات موضوعية: Aicardi-Goutières syndrome (AGS), SAMHD1, unscheduled DNA synthesis (UDS), cockayne syndrome (CS), transcription coupled repair (TCR)
وصف الملف: application/pdf
Degree: 博士(医学) -- Nagasaki University (長崎大学)
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4دورية أكاديمية
المؤلفون: Francesca Dragoni, Jessica Garau, Simona Orcesi, Costanza Varesio, Matteo Bordoni, Eveljn Scarian, Rosalinda Di Gerlando, Elisa Fazzi, Roberta Battini, Altea Gjurgjaj, Bartolo Rizzo, Orietta Pansarasa, Stella Gagliardi
المصدر: Frontiers in Endocrinology, Vol 14 (2023)
مصطلحات موضوعية: Aicardi-Goutières Syndrome (AGS), methylation, mtDNA, D-loop (control region), epigenetics (DNA methylation), mitoepigenetics, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1152237/fullTest; https://doaj.org/toc/1664-2392Test
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5دورية أكاديمية
المؤلفون: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala
المصدر: Frontiers in Neurology, Vol 13 (2023)
مصطلحات موضوعية: X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorders, Aicardi-Goutières syndrome (AGS), hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.1072256/fullTest; https://doaj.org/toc/1664-2295Test
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6دورية أكاديمية
المؤلفون: Mojca Železnik, Aneta Soltirovska Šalamon, Maruša Debeljak, Aleš Goropevšek, Nataša Šuštar, Damjana Ključevšek, Alojz Ihan, Tadej Avčin
المصدر: Frontiers in Immunology, Vol 13 (2023)
مصطلحات موضوعية: Aicardi–Goutières syndrome (AGS), IFIH1 gene, interferonopathy, Janus kinase inhibitor, combined immune deficiency, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2022.1033513/fullTest; https://doaj.org/toc/1664-3224Test
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7دورية أكاديمية
المؤلفون: Frémond, Marie-Louise, Hully, Marie, Fournier, Benjamin, Barrois, Rémi, Lévy, Romain, Aubart, Mélodie, Castelle, Martin, Chabalier, Delphine, Gins, Clarisse, Sarda, Eugénie, Al Adba, Buthaina, Couderc, Sophie, D’ Almeida, Céline, Berat, Claire-Marine, Durrleman, Chloé, Espil, Caroline, Lambert, Laetitia, Méni, Cécile, Périvier, Maximilien, Pillet, Pascal, Polivka, Laura, Schiff, Manuel, Todosi, Calina, Uettwiller, Florence, Lepelley, Alice, Rice, Gillian, I, Seabra, Luis, Sanquer, Sylvia, Hulin, Anne, Pressiat, Claire, Goldwirt, Lauriane, Bondet, Vincent, Duffy, Darragh, Moshous, Despina, Bader-Meunier, Brigitte, Bodemer, Christine, Robin-Renaldo, Florence, Boddaert, Nathalie, Blanche, Stéphane, Desguerre, Isabelle, Crow, Yanick, J, Neven, Bénédicte
المساهمون: Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Cité (UPCité), Neurogénétique et neuroinflammation = Neurogenetics and neuroinflammation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Sidra Medicine Doha, Qatar, Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS Poissy, Centre Hospitalier Intercommunal Castres-Mazamet (CHIC-CM), CHU Bordeaux, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Manchester Manchester, Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hopital Saint-Louis AP-HP (AP-HP), Immunologie Translationnelle - Translational Immunology lab, Institut Pasteur Paris (IP)-Université Paris Cité (UPCité), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Edinburgh (Edin.), Immunogenetics of pediatric autoimmune diseases (Equipe Inserm U1163), M.-L. F. received a grant from the Institut National de la Santé et de la Recherche Médicale (reference: 000427993). Y. J. C. acknowledges the European Research Council (GA309449 and 786142-E-T1IFNs) and a state subsidy managed by the National Research Agency (France) under the “Investments for the Future” program bearing the reference ANR-10-IAHU-01. Y. J. C. is supported by a UK Medical Research Council Human Genetics Unit core grant (MRC, U127580972). Y. J. C. and D. D. acknowledge the ANR (grant CE17001002). D. D. thanks ImmunoQure AG for the provision of antibodies for the Simoa assay. The project was supported by MSDAVENIR (Devo-Decode Project)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 786142,ERC-2017-ADG,E-T1IFNs(2018)
المصدر: ISSN: 0271-9142.
مصطلحات موضوعية: Aicardi-Goutières syndrome (AGS), interferon, JAK inhibitors, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37171742; info:eu-repo/grantAgreement// 786142/EU/Elaboration of the type I interferonopathies/E-T1IFNs; pasteur-04124249; https://pasteur.hal.science/pasteur-04124249Test; https://pasteur.hal.science/pasteur-04124249/documentTest; https://pasteur.hal.science/pasteur-04124249/file/s10875-023-01500-z.pdfTest; PUBMED: 37171742; PUBMEDCENTRAL: PMC10175907
الإتاحة: https://doi.org/10.1007/s10875-023-01500-zTest
https://pasteur.hal.science/pasteur-04124249Test
https://pasteur.hal.science/pasteur-04124249/documentTest
https://pasteur.hal.science/pasteur-04124249/file/s10875-023-01500-z.pdfTest -
8دورية أكاديمية
المؤلفون: Bonaventura, Eleonora, Alberti, Luisella, Lucchi, Simona, Cappelletti, Laura, Fazzone, Salvatore, Cattaneo, Elisa, Bellini, Matteo, Izzo, Giana, Parazzini, Cecilia, Bosetti, Alessandra, Di Profio, Elisabetta, Fiore, Giulia, Ferrario, Matilde, Mameli, Chiara, Sangiorgio, Arianna, Masnada, Silvia, Zuccotti, Gian Vincenzo, Veggiotti, Pierangelo, Spaccini, Luigina, Iascone, Maria, Verduci, Elvira, Cereda, Cristina, Tonduti, Davide
المساهمون: E. Bonaventura, L. Alberti, S. Lucchi, L. Cappelletti, S. Fazzone, E. Cattaneo, M. Bellini, G. Izzo, C. Parazzini, A. Bosetti, E. Di Profio, G. Fiore, M. Ferrario, C. Mameli, A. Sangiorgio, S. Masnada, G.V. Zuccotti, P. Veggiotti, L. Spaccini, M. Iascone, E. Verduci, C. Cereda, D. Tonduti
مصطلحات موضوعية: Aicardi-Goutières syndrome (AGS), C26:0-lysophosphatidylcholine, DBS, X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorder, hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Settore MED/38 - Pediatria Generale e Specialistica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36698902; info:eu-repo/semantics/altIdentifier/wos/WOS:000919104000001; volume:13; firstpage:1; lastpage:12; numberofpages:12; journal:FRONTIERS IN NEUROLOGY; https://hdl.handle.net/2434/953000Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85146998599
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9دورية أكاديميةAicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test
المؤلفون: Chikako Senju, Yuka Nakazawa, Mayuko Shimada, Dai Iwata, Michiko Matsuse, Katsumi Tanaka, Yasushi Miyazaki, Shinichi Moriwaki, Norisato Mitsutake, Tomoo Ogi
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: Aicardi-Goutières syndrome (AGS), SAMHD1, unscheduled DNA synthesis (UDS), cockayne syndrome (CS), transcription coupled repair (TCR), Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.1048002/fullTest; https://doaj.org/toc/2296-2360Test
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10دورية أكاديمية
المؤلفون: Xinfeng Guo, Clayton A. Wiley, Richard A. Steinman, Yi Sheng, Beihong Ji, Junmei Wang, Liyong Zhang, Tony Wang, Mazen Zenatai, Timothy R. Billiar, Qingde Wang
المصدر: Journal of Neuroinflammation, Vol 18, Iss 1, Pp 1-16 (2021)
مصطلحات موضوعية: Aicardi-Goutières syndrome (AGS), Animal model, RNA editing, Adenosine Deaminase Acting on RNA 1 (ADAR1), Interferonopathy, In situ hybridization, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1742-2094Test
النص الكامل