المؤلفون: Jonathan London, Mélanie Rama, Diana Rodriguez, Florence Uettwiller, Didier Bessis, Diane Doummar, Véronique Hentgen, Emilie Carme, Alexandre Belot, Isabelle Melki, Claire Duflos, Hélène Martin, Viviane Queyrel-Moranne, Isabelle Touitou, Antonella Insalaco, Stéphanie Valence, Guillaume Sarrabay, Ketil Heimdal, David Geneviève, Sophie Georgin-Lavialle, Isabelle Koné-Paut, Nathalie Franck, A. Bonhomme, Guilaine Boursier, Nathalie Tieulie

المساهمون: Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Montpellier, AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier )-Université de Montpellier (UM), Hôpital d'Instruction des Armées Legouest, Service de Santé des Armées, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Guy de Chaulliac, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Oslo University Hospital [Oslo], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], APHP, Groupe Hospitalier Cochin, Départementd’Hépatologie, Paris, France, Université de Paris - UFR Sciences Fondamentales et Biomédicales [Sciences], Université de Paris (UP), CHU Nice, Hopital l'Archet 1, Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital l'Archet, AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier de Versailles André Mignot (CHV), We thank Mrs Cécile Rittore and M. Bruno Dumont for excellent technical contribution. We thank Laura Smales (http://www.biomedediting.com), for editing the manuscript for English language. The French Ministry of Health and the University Hospital of Montpellier supported this work., Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Paris Cité - UFR Sciences Fondamentales et Biomédicales [Sciences], Université Paris Cité (UPC)

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (7), pp.960-971. ⟨10.1038/s41431-018-0130-6⟩

مصطلحات موضوعية: 030203 arthritis & rheumatology, 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, [SDV]Life Sciences [q-bio], Context (language use), Odds ratio, medicine.disease, Compound heterozygosity, Genetic analysis, Article, 3. Good health, Adenosine deaminase deficiency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Internal medicine, Genotype, Genetics, medicine, business, Vasculitis, Genetics (clinical), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5273c7c5eec09ad8fb4efb1dfe7f8354
https://doi.org/10.1038/s41431-018-0130-6

المؤلفون: Flavio Faletra, Gabriele Stocco, Evelyn Hartmann, Chantal Brouzes, Flavia Guillem, Fabrice Porcheray, Florence Uettwiller, Carolina Uggenti, Diego Vozzi, Marion Rabant, Capucine Picard, Nicolas Cagnard, Elisa Piscianz, Olivier Hermine, Andrea Taddio, Sophie Candon, Gunther Hartmann, Leo A. H. Zeef, Pierre Quartier, Marie Alexandra Alyanakian, Brigitte Bader-Meunier, Benoit Beitz, Gillian I. Rice, Muriel Girard, Monique Fabre, Alberto Tommasini, Dominique Lasne, Marine Depp, Nathalie Boddaert, Mathieu P Rodero, Stefano Volpi, Marco Gattorno, Yanick J. Crow, Eva Bartok, Michael Dussiot, Michel Polak, Tiffany Pascreau, Roberta Caorsi, Erika Della Mina, Naoki Kitabayashi, Annalisa Marcuzzi, Vincent Bondet, Paolo Picco, Luis Seabra, Jacques Beltrand, Erica Valencic, Marie-Louise Frémond, Bénédicte Neven, Frédéric Rieux-Laucat, Darragh Duffy, Alessandra Tesser, Patrick Nitschke, Anna Monica Bianco, Marina Charbit, Annie Harroche, Serena Pastore, Winfried Barchet

المساهمون: Laboratory of neurogenetics and neuroinflammation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Trieste, University of Bonn, Academic Unit of Medical Genetic, University of Manchester [Manchester], Microbiology Technology Institute, BIOASTER Microbiology Technology Institute [Lyon], Immunobiologie des Cellules dendritiques, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Giannina Gaslini Institute, Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Radiologie et imagerie médicale [CHU Necker], Laboratory of molecular mechanisms of hematologic disorders and therapeutic implications (ERL 8254 - Equipe Inserm U1163), Service de néphrologie pédiatrique [CHU Necker], Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Plate Forme Paris Descartes de Bioinformatique (BIP-D), Université Paris Descartes - Paris 5 (UPD5), Centre d'étude des Déficits Immunitaires, Service d'endocrinologie, gynécologie et diabétologie pédiatriques [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Life Sciences, Institute of Clinical Chemistry and Pharmacology, Center for Integrated Oncology, University Hospital of Bonn, Service d'Hématologie Adulte, IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy, Y.J.C. acknowledges the European Research Council (GA 309449), and a state subsidymanaged by the National Research Agency (France) under the 'Investments for the Future'program bearing the reference ANR-10-IAHU-01. We thank ImmunoQure AGfor sharing of antibodies used to assess interferon alpha protein levels in the Simoa assay.M.-L.F. is supported by the Institut National de la Santé et de la Recherche Médicale(Grant number 000427993). A.T. and M.G. acknowledge the Italian Telethon (Grant no.GGP15241A). A.T. acknowledges the Institute for Maternal and Child Health-IRCCS'Burlo Garofolo' (RC 17/2014 funded by Italian Ministry of Health, art 12 and 12bis D.lgs 502/92), the 'Associazione Azzurra Malattie Rare'and the 'Beneficientia Stiftung in Vaduz'. We would like to thank Olivier pellet and Jerome Megret from theflow cytometry platform at SFR Necker (INSERM US24-CNRS UMS 3633) for their help withperipheral blood mononuclear cell subset isolation. We would like to thank the Geno-mics Platform, INSERM UMR1163 for whole-exome sequencing. E.B., G.H., and W.B.acknowledge DZIF funding and German Research Foundation (DFG) grants EXC1023:ImmunoSensation, CRCs 670 and 704, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 309449,EC:FP7:ERC,ERC-2012-StG_20111109,T1-IFN(2013), Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), BIOASTER, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Università degli studi di Trieste = University of Trieste, Universität Bonn = University of Bonn, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University Hospital Bonn, Vougny, Marie-Christine, Instituts Hospitalo-Universitaires - Institut Hospitalo-Universitaire Imagine - - Imagine2010 - ANR-10-IAHU-0001 - IAHU - VALID, Definition and characterization of type I interferonopathies - T1-IFN - - EC:FP7:ERC2013-03-01 - 2018-02-28 - 309449 - VALID, Rodero, Mathieu P., Tesser, Alessandra, Bartok, Eva, Rice, Gillian I., Della Mina, Erika, Depp, Marine, Beitz, Benoit, Bondet, Vincent, Cagnard, Nicola, Duffy, Darragh, Dussiot, Michael, Frã©mond, Marie-Louise, Gattorno, Marco, Guillem, Flavia, Kitabayashi, Naoki, Porcheray, Fabrice, Rieux-Laucat, Frederic, Seabra, Lui, Uggenti, Carolina, Volpi, Stefano, Zeef, Leo A. H., Alyanakian, Marie-Alexandra, Beltrand, Jacque, Bianco, Anna Monica, Boddaert, Nathalie, Brouzes, Chantal, Candon, Sophie, Caorsi, Roberta, Charbit, Marina, Fabre, Monique, Faletra, Flavio, Girard, Muriel, Harroche, Annie, Hartmann, Evelyn, Lasne, Dominique, Marcuzzi, Annalisa, Neven, Bã©nã©dicte, Nitschke, Patrick, Pascreau, Tiffany, Pastore, Serena, Picard, Capucine, Picco, Paolo, Piscianz, Elisa, Polak, Michel, Quartier, Pierre, Rabant, Marion, Stocco, Gabriele, Taddio, Andrea, Uettwiller, Florence, Valencic, Erica, Vozzi, Diego, Hartmann, Gunther, Barchet, Winfried, Hermine, Olivier, Bader-Meunier, Brigitte, Tommasini, Alberto, Crow, Yanick J.

المصدر: Nature Communications
Nature Communications, Nature Publishing Group, 2017, 8 (1), pp.2176. ⟨10.1038/s41467-017-01932-3⟩
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Nature Communications, Nature Publishing Group, 2017, 8 (1), ⟨10.1038/S41467-017-01932-3⟩
Rodero, M P, Tesser, A, Bartok, E, Rice, G I, Della Mina, E, Depp, M, Beitz, B, Bondet, V, Cagnard, N, Duffy, D, Dussiot, M, Frémond, M, Gattorno, M, Guillem, F, Kitabayashi, N, Porcheray, F, Rieux-laucat, F, Seabra, L, Uggenti, C, Volpi, S, Zeef, L A H, Alyanakian, M, Beltrand, J, Bianco, A M, Boddaert, N, Brouzes, C, Candon, S, Caorsi, R, Charbit, M, Fabre, M, Faletra, F, Girard, M, Harroche, A, Hartmann, E, Lasne, D, Marcuzzi, A, Neven, B, Nitschke, P, Pascreau, T, Pastore, S, Picard, C, Picco, P, Piscianz, E, Polak, M, Quartier, P, Rabant, M, Stocco, G, Taddio, A, Uettwiller, F, Valencic, E, Vozzi, D, Hartmann, G, Barchet, W, Hermine, O, Bader-meunier, B, Tommasini, A & Crow, Y J 2017, ' Type I interferon-mediated autoinflammation due to DNase II deficiency ', Nature Communications, vol. 8, no. 1, 2176 . https://doi.org/10.1038/s41467-017-01932-3
Nature Communications, 2017, 8 (1), pp.2176. ⟨10.1038/s41467-017-01932-3⟩
Rodero, M P, Tesser, A, Bartok, E, Rice, G, Della Mina, E, Depp, M, Beitz, B, Bondet, V, Cagnard, N, Duffy, D, Dussiot, M, Fremond, M-L, Gattorno, M, Guillem, F, Kitabayashi, N, Porcheray, F, Rieux-Laucat, F, Seabra, L, Uggenti, C, Volpi, S, Zeef, L, Alyanakian, M-A, Beltrand, J, Bianco, A M, Boddaert, N, Brouzes, C, Candon, S, Caorsi, R, Charbit, M, Fabre, M, Faletra, F, Girard, M, Harroche, A, Hartmann, E, Lasne, D, Marcuzzi, A, Neven, B, Nitschke, P, Pascreau, T, Pastore, S, Picard, C, Picco, P P, Piscianz, E, Polak, M, Quartier, P, Rabant, M, Stocco, G, Taddio, A, Uettwiller, F, Valencic, E, Vozzi, D, Hartmann, G, Barchet, W, Hermine, O, Bader-Meunier, B, Tommasini, A & Crow, Y 2017, ' Type I interferon mediated autoinflammation due to DNase II deficiency ', Nature Communications, vol. 8, 2176 . https://doi.org/10.1038/s41467-017-01932-3

مصطلحات موضوعية: Genetics and Molecular Biology (all), Male, 0301 basic medicine, Erythroblasts, [SDV]Life Sciences [q-bio], DNASE2, type I interferon, autoinflammation, exome sequencing, Up-Regulation/drug effects, General Physics and Astronomy, Erythroblasts/immunology, DNASE2, type I interferon, autoinflammation, exome sequencing, Biochemistry, LS3_11, 0302 clinical medicine, Interferon, Interferon-alpha/blood, Membranoproliferative glomerulonephritis, STAT1, Phosphorylation, lcsh:Science, Child, ComputingMilieux_MISCELLANEOUS, Deoxyribonucleases, Multidisciplinary, biology, RNA, Messenger/analysis, Chemistry (all), Endodeoxyribonucleases/deficiency, Up-Regulation, 3. Good health, STAT1 Transcription Factor, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, STAT1 Transcription Factor/metabolism, Antibody, Signal Transduction, medicine.drug, STAT3 Transcription Factor, [SDV.IMM] Life Sciences [q-bio]/Immunology, Adolescent, Science, Alpha interferon, Antiviral Agents/pharmacology, Hematopoiesis/immunology, Antiviral Agents, Article, General Biochemistry, Genetics and Molecular Biology, Deoxyribonucleases/deficiency, NO, Physics and Astronomy (all), 03 medical and health sciences, Downregulation and upregulation, medicine, Humans, RNA, Messenger, Signal Transduction/immunology, Endodeoxyribonucleases, Innate immune system, Sequence Analysis, RNA, Gene Expression Profiling, Hereditary Autoinflammatory Diseases, Interferon-alpha, General Chemistry, medicine.disease, Hematopoiesis, 030104 developmental biology, STAT3 Transcription Factor/metabolism, Hereditary Autoinflammatory Diseases/blood, Mutation, Immunology, biology.protein, Nucleic acid, lcsh:Q, Biochemistry, Genetics and Molecular Biology (all), 030215 immunology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7996f15867050dcd49eb11d20f8f073
https://hal-pasteur.archives-ouvertes.fr/pasteur-01768950/document

المؤلفون: Vinodh Narayanan, Magalie Barth, Majid Mojarrad, Christian de Goede, Penny Fallon, Reza Maroofian, Yanick J. Crow, Russell C. Dale, Valentina De Giorgis, Magnhild Rasmussen, Soe Mar, Mark P. Gorman, Atieh Eslahi, Gary McCullagh, Jean-Pierre S-M Lin, Simona Orcesi, Manju A. Kurian, Michael C Fahey, Isabelle Desguerre, Tommy Stödberg, Gillian I. Rice, Florence Petit, Cindy Colson, Amy Waldman, Marie Hully, Naoki Kitabayashi, Laura Martí-Sánchez, Begoña De Azua, Belén Pérez-Dueñas, Adeline Vanderver, Pilar Rodríguez-Pombo, Nicole Ulrick, François Rivier, Niklas Darin, Corinne De Laet, Annabel C.E. Burton, Alex J. Fay, Nirmala Rani Gowrinathan, Annick Toutain, Mehran Beiraghi Toosi, John H. Livingston, Agathe Roubertie, Keri Ramsey, Florence Uettwiller, Maria Luisa Carpanelli, Alfredo M. Cerisola, Tracy A Briggs, Nicolas Leboucq, Matthew A. Lines, Juan Darío Ortigoza-Escobar, Elisa Fazzi, Federica Rachele Danti

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de Neuroradiologie[Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Division of Evolution and Genomic Science [Manchester], School of Biological Sciences [Manchester]-Faculty of Biology, Medicine and Health [Manchester], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Fondation 'Neurological Institute C. Mondino ', CHU de Lille, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Genetic Medicine, University of Manchester, Manchester Academic Heath Science Centre, European Research Council, Agence Nationale de la Recherche (France), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau

المصدر: Neuropediatrics
Neuropediatrics, Thieme Publishing, 2017, 48 (3), pp.166-184. ⟨10.1055/s-0037-1601449⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Neuropediatrics, Thieme Publishing, 2017, 48 (3), pp.166--184. ⟨10.1055/s-0037-1601449⟩
Digital.CSIC. Repositorio Institucional del CSIC
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Rice, G, Kitabayashi, N, Barth, M, Briggs, T, Burton, A C E, Luisa Carpanelli, M, Cerisola, A M, Colson, C, Dale, R C, Danti, F R, Darin, N, De Azua, B, De Giorgis, V, De Goede, C G E L, Desguerre, I, De Laet, C, Eslahi, A, Fahey, M C, Fallon, P, Fay, A J, Fazzi, E, Gorman, M P, Gowrinathan, N R, Hully, M, Kurian, M A, Leboucq, N, Lin, J-P S-M, Lines, M A, Mar, S S, Maroofian, R, Martí-Sanchez, L, McCullagh, G, Mojarrad, M, Narayanan, V, Orcesi, S, Ortigoza-Escobar, J D, Pérez-Dueñas, B, Petit, F, Ramsey, K M, Rasmussen, M, Rivier, F, Rodríguez-Pombo, P, Roubertie, A, Stödberg, T I, Beiraghi Toosi, M, Toutain, A, Uettwiller, F, Ulrick, N, Vanderver, A, Waldman, A, Livingston, J H & Crow, Y 2017, ' Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease ', Neuropediatrics, vol. 48, no. 3, pp. 166-184 . https://doi.org/10.1055/s-0037-1601449
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Aicardi–Goutières syndrome, Adenosine Deaminase, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Aicardi-Goutières syndrome, medicine.disease_cause, Compound heterozygosity, Pediatrics, Bilateral striatal necrosis, bilateral striatal necrosis, Interquartile range, Medicine, Missense mutation, Child, ComputingMilieux_MISCELLANEOUS, Mutation, spastic paraparesis, RNA-Binding Proteins, General Medicine, Perinatology and Child Health, Idiopathic basal ganglia calcification, 3. Good health, Dystonia, Phenotype, Spastic paraparesis, Child, Preschool, Interferon Type I, Biomarker (medicine), Female, dystonia, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Context (language use), Nervous System Malformations, Article, 03 medical and health sciences, Young Adult, Autoimmune Diseases of the Nervous System, Humans, Preschool, idiopathic basal ganglia calcification, business.industry, Biomarkers, Infant, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, business, Interferon type I

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e29118a7c0c5425b40c63fd87d75f6
https://hal.archives-ouvertes.fr/hal-01761366