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1دورية أكاديمية
المؤلفون: Wortmann, Saskia B, Feichtinger, Rene G, Abela, Lucia, van Gemert, Loes A, Aubart, Mélodie, Dufeu-Berat, Claire-Marine, Boddaert, Nathalie, de Coo, Rene, Stühn, Lara, Hebbink, Jasmijn, Heinritz, Wolfram, Hildebrandt, Julia, Himmelreich, Nastassja, Korenke, Christoph, Lehman, Anna, Leyland, Thomas, Makowski, Christine, Martinez Marin, Rafael Jenaro, Marzin, Pauline, Mühlhausen, Chris, Rio, Marlène, Rotig, Agnes, Roux, Charles-Joris, Schiff, Manuel, Haack, Tobias B, Syrbe, Steffen, Zylicz, Stas A, Thiel, Christian, Veiga da Cunha, Maria, Van Schaftingen, Emile, Wagner, Matias, Mayr, Johannes A, Wevers, Ron A, Boltshauser, Eugen, Willemsen, Michel A
المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique
المصدر: Neurology. Genetics, Vol. 10, no.2, p. e200146 (2024)
العلاقة: boreal:288435; http://hdl.handle.net/2078.1/288435Test; info:pmid/38617198; urn:ISSN:2376-7839; urn:EISSN:2376-7839
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2دورية 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 -
3دورية أكاديمية
المؤلفون: Tuchmann‐Durand, Caroline, Roda, Célina, Renard, Perrine, Mortamet, Guillaume, Bérat, Claire‐Marine, Altenburger, Lucile, de Larauz, Marie Hug, Thevenet, Eloise, Cottart, Charles‐Henry, Moulin, Florence, Bouchereau, Juliette, Brassier, Anais, Arnoux, Jean‐Baptiste, Schiff, Manuel, Bednarek, Nathalie, Lamireau, Delphine, Garros, Alexa, Mention, Karine, Cano, Aline, Finger, Lionel, Pelosi, Michele, Brochet, Cécile Sergent, Caccavelli, Laure, Raphalen, Jean‐Herlé, Renolleau, Sylvain, Oualha, Mehdi, de Lonlay, Pascale
المساهمون: Agence Nationale de la Recherche, French Muscular Dystrophy Association, Fondation Maladies Rares
المصدر: Journal of Inherited Metabolic Disease ; volume 46, issue 4, page 649-661 ; ISSN 0141-8955 1573-2665
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4دورية أكاديمية
المؤلفون: Imbard, Apolline, Bouchereau, Juliette, Arnoux, Jean-Baptiste, Brassier, Anaïs, Schiff, Manuel, Bérat, Claire-Marine, Pontoizeau, Clément, Benoist, Jean-François, Josse, Constant, Montestruc, François, de Lonlay, Pascale
المساهمون: Biocodex
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
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5دورية أكاديمية
المؤلفون: Wicker, Camille, Roux, Charles-Joris, Goujon, Louise, de Feraudy, Yvan, Hully, Marie, Brassier, Anais, Bérat, Claire-Marine, Chemaly, Nicole, Wiedemann, Arnaud, Damaj, Lena, Abi-Warde, Marie-Thérèse, Dobbelaere, Dries, Roubertie, Agathe, Cano, Aline, Arion, Alina, Kaminska, Anna, Da Costa, Sabrina, Bruneel, Arnaud, Vuillaumier-Barrot, Sandrine, Boddaert, Nathalie, Pascreau, Tiffany, Borgel, Delphine, Kossorotoff, Manoelle, Harroche, Annie, de Lonlay, P.
المصدر: Molecular Genetics and Metabolism ; volume 140, issue 3, page 107674 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107674Test
https://api.elsevier.com/content/article/PII:S1096719223003049?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719223003049?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Brassier, Anaïs, Pichard, Samia, Schiff, Manuel, Bouchereau, Juliette, Bérat, Claire-Marine, Caillaud, Catherine, Pion, Aude, Khraiche, Diala, Fauroux, Brigitte, Oualha, Mehdi, Barnerias, Christine, Desguerre, Isabelle, Hully, Marie, Maquet, Marion, Deladrière, Elodie, de Lonlay, Pascale, Gitiaux, Cyril
المصدر: Molecular Genetics and Metabolism ; volume 139, issue 4, page 107650 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107650Test
https://api.elsevier.com/content/article/PII:S1096719223002809?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719223002809?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Roux, Charles-Joris, Dufeu-Berat, Claire-Marine, Hully, Marie, Rotig, Agnes, Schiff, Manuel, De Lonlay, Pascale, Aubart, Mélodie, Alison, Marianne, Jaroussie, Marianne, Levy, Raphaël, Dangouloff-Ros, Volodia, Barcia, Giulia, Desguerre, Isabelle, Munnich, Arnold, Gitiaux, Cyril, Boddaert, Nathalie
المصدر: Neurology ; ISSN:1526-632X ; Volume:102 ; Issue:11
العلاقة: https://doi.org/10.1212/WNL.0000000000209356Test; https://pubmed.ncbi.nlm.nih.gov/38754044Test
الإتاحة: https://doi.org/10.1212/WNL.0000000000209356Test
https://pubmed.ncbi.nlm.nih.gov/38754044Test -
8دورية أكاديمية
المؤلفون: Dupuy, Gabrielle, Roux, Charles-Joris, Barrois, Rémi, Imbard, Apolline, Pontoizeau, Clément, Dangles, Marie Thérèse, Aubart, Mélodie, Arnoux, Jean-Baptiste, Margoses, Diane, Brassier, Anaïs, Marbach, Clothilde, Bérat, Claire-Marine, Sarda, Eugénie, Gitiaux, Cyril, de Lonlay, Pascale, Boddaert, Nathalie, Schiff, Manuel, Desguerre, Isabelle
المصدر: European Journal of Paediatric Neurology ; volume 50, page 6-15 ; ISSN 1090-3798
مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.ejpn.2024.02.013Test
https://api.elsevier.com/content/article/PII:S1090379824000205?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379824000205?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Wortmann, Saskia B., Feichtinger, Rene G., Abela, Lucia, van Gemert, Loes A., Aubart, Mélodie, Dufeu-Berat, Claire-Marine, Boddaert, Nathalie, de Coo, Rene, Stühn, Lara, Hebbink, Jasmijn, Heinritz, Wolfram, Hildebrandt, Julia, Himmelreich, Nastassja, Korenke, Christoph, Lehman, Anna, Leyland, Thomas, Makowski, Christine, Martinez Marin, Rafael Jenaro, Marzin, Pauline, Mühlhausen, Chris
المصدر: Neurology: Genetics; Apr2024, Vol. 10 Issue 2, p1-13, 13p
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10دورية أكاديمية
المؤلفون: Bérat, Claire-Marine, Roda, Célina, Brassier, Anais, Bouchereau, Juliette, Wicker, Camille, Servais, Aude, Dubois, Sandrine, Assoun, Murielle, Belloche, Claire, Barbier, Valérie, Leboeuf, Virginie, Petit, François M., Gaignard, Pauline, Lebigot, Elise, Bérat, Pierre-Jean, Pontoizeau, Clément, Touati, Guy, Talbotec, Cécile, Campeotto, Florence, Ottolenghi, Chris, Arnoux, Jean-Baptiste, de Lonlay pascale, Pascale
المصدر: Molecular Genetics and Metabolism Reports ; volume 26, page 100655 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2020.100655Test
https://api.elsevier.com/content/article/PII:S2214426920301014?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426920301014?httpAccept=text/plainTest