المؤلفون: Catalina Abad, N. Danièle, Jayme M.L. Nordin, Giuseppe Ronzitti, Bernard Gjata, Helena Costa-Verdera, Simon Barral, Sean M. Armour, Marcelo Simon-Sola, Fanny Collaud, Marco Crosariol, Julien Fabregue, David A. Gross, Mathew Li, Jérémie Cosette, Laetitia van Wittenberghe, Pasqualina Colella, Maryse Moya-Nilges, G. Michael Preston, Christopher Riling, Xavier M. Anguela, Federico Mingozzi, Severine Charles, Pauline Sellier, Tom Antrilli, William J. Quinn, Umut Cagin, Jacomina Krijnse-Locker, Olivier Boyer

المساهمون: Généthon, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Spark Therapeutics [Philadelphia, PA, USA], Institut Pasteur [Paris] (IP), Plateforme BioImagerie Ultrastructurale – Ultrastructural BioImaging Platform (UTechS UBI), Institute for Research and Innovation in Biomedicine (IRIB), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), This work was supported by Genethon and the French Muscular Dystrophy Association,the European Union’s research and innovation program under grant agreement no.667751 (to F.M.), the European Research Council Consolidator Grant under grantagreement no. 617432 (to F.M.), Marie Skłodowska-Curie Actions Individual Fellowship(MSCA-IF) grant agreement no. 797144 (to U.C.), a grant from the DIM ThérapieGénique (to D.A.G.) and by Spark Therapeutics under a sponsored research agreementto Genethon., ANR-16-CE92-0008,membrane dynamics,Rupture et réparation membranaire : stratégies d'assemblage virale(2016), European Project: 667751,H2020,H2020-PHC-2015-two-stage,MYOCURE(2016), European Project: 617432,EC:FP7:ERC,ERC-2013-CoG,MOMAAV(2014), Gestionnaire, Hal Sorbonne Université, Development of an innovative gene therapy platform to cure rare hereditary muscle disorders - MYOCURE - - H20202016-01-01 - 2019-12-31 - 667751 - VALID, Molecular signatures and Modulation of immunity to Adeno-Associated Virus vectors - MOMAAV - - EC:FP7:ERC2014-07-01 - 2019-06-30 - 617432 - VALID, Thérapie des maladies du muscle strié, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU), Institut Pasteur [Paris]

المصدر: Nature Communications
Nature Communications, 2021, 12 (1), pp.6393. ⟨10.1038/s41467-021-26744-4⟩
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.6393. ⟨10.1038/s41467-021-26744-4⟩

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Genetic enhancement, Science, Metabolic disorders, General Physics and Astronomy, Pharmacology, General Biochemistry, Genetics and Molecular Biology, Virus, Article, law.invention, 03 medical and health sciences, Mice, 0302 clinical medicine, Gene therapy, Pharmacokinetics, law, Autophagy, Distribution (pharmacology), Medicine, Animals, Enzyme Replacement Therapy, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Multidisciplinary, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Glycogen Storage Disease Type II, nutritional and metabolic diseases, alpha-Glucosidases, General Chemistry, Enzyme replacement therapy, Phenotype, 3. Good health, Enzyme, chemistry, Liver, Recombinant DNA, Female, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a1664cfde76136fe6521768528975a1
https://hal.sorbonne-universite.fr/hal-03449262/document

المؤلفون: Stéphane Hilliquin, N. Danièle, B. Baroukh, Severine Charles, Louisa Jauze, Fabienne Rajas, Lotfi Slimani, Agnès Linglart, Jérémy Sadoine, Claire Bardet, Giuseppe Ronzitti, Catherine Chaussain, Volha V. Zhukouskaya, Laetitia van Wittenberghe, Federico Mingozzi, Christian Leborgne

المساهمون: Généthon, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Pathologies, imagerie et biothérapies oro-faciales = Orofacial pathologies, imaging and biotherapies (URP 2496), Université Paris Cité (UPCité), Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital Bicêtre, Nutrition, diabète et cerveau (NUDICE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Odontologie [Bretonneau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bretonneau, ANR-18-CE14-0018,HYPOSKEL,Hypophosphatémie liée à l'X : des mécanismes pathologiques de la minéralisation aux traitements des manifestations squelettiques(2018), Pathologies, Imagerie et Biothérapies oro-faciales (URP 2496), Di Carlo, Marie-Ange

المصدر: Science Advances
Science Advances, 2021, 7 (44), pp.eabj5018. ⟨10.1126/sciadv.abj5018⟩
Science Advances, American Association for the Advancement of Science (AAAS), 2021, 7 (44), pp.eabj5018. ⟨10.1126/sciadv.abj5018⟩

مصطلحات موضوعية: Multidisciplinary, business.industry, viruses, Genetic enhancement, SciAdv r-articles, Diseases and Disorders, Gene transfer, Bioinformatics, X-linked hypophosphatemia, medicine.disease, Virus, stomatognathic diseases, Text mining, Refractory, Proof of concept, Medicine, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Biomedicine and Life Sciences, Health and Medicine, business, General Economics, Econometrics and Finance, Research Article, Therapeutic strategy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72e8f96d8b1ddfe4e8e58d3a05f60eef
https://doi.org/10.1126/sciadv.abj5018

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المؤلفون: Brigitte Baroukh, Stéphane Hilliquin, Wittenberghe Laetitia van, Christian Leborgne, Giuseppe Ronzitti, Lotfi Slimani, Fabienne Rajas, Volha V. Zhukouskaya, Claire Bardet, Louisa Jauze, N. Danièle, Catherine Chaussain, Federico Mingozzi, Severine Charles, Jérémy Sadoine, Agnès Linglart

المساهمون: Di Carlo, Marie-Ange, Généthon, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Nutrition, diabète et cerveau (NUDICE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Pathologies, Imagerie et Biothérapies oro-faciales (URP 2496), Université Paris Cité (UPCité), Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service d'Odontologie [Bretonneau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bretonneau, Nutrition, diabète et cerveau, Université de Paris (UP), Pathologies, imagerie et biothérapies oro-faciales = Orofacial pathologies, imaging and biotherapies (URP 2496)

المصدر: Endocrine Abstracts
Endocrine Abstracts, Elsevier Science, 2021, ⟨10.1530/endoabs.73.OC6.2⟩
Endocrine Abstracts, 2021, ⟨10.1530/endoabs.73.OC6.2⟩

مصطلحات موضوعية: business.industry, Genetic enhancement, Cancer research, Medicine, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], business, X-linked hypophosphatemia, medicine.disease, ComputingMilieux_MISCELLANEOUS, 3. Good health, Therapeutic strategy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29cd8803d60191682c6f83976f23415e
https://doi.org/10.1530/endoabs.73.OC6.2

المؤلفون: M. Biferi, Bernard Gjata, Nicolas Guerchet, Laetitia van Wittenberghe, Fanny Collaud, N. Danièle, Manuel Gómez, Severine Charles, Pauline Sellier, M. Cohen-Tannoudji, Guillaume Tanniou, Federico Mingozzi, Jacomina Krijnse-Locker, Umut Cagin, Maryse Moya-Nilges, Pasqualina Colella, Marcelo Simon-Sola

المساهمون: Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Thérapie des maladies du muscle strié, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU), Institut Pasteur [Paris], Funding: This work was supported by Genethon, the French Muscular Dystrophy Association (AFM), the European Commission (grant nos. 667751, 617432, and 797144), and Spark Therapeutics., European Project: 667751,H2020,H2020-PHC-2015-two-stage,MYOCURE(2016), European Project: 617432,EC:FP7:ERC,ERC-2013-CoG,MOMAAV(2014), Centre de recherche en Myologie – U974 SU-INSERM, Institut Pasteur [Paris] (IP), ANR-16-CE92-0008,membrane dynamics,Rupture et réparation membranaire : stratégies d'assemblage virale(2016), French Muscular Dystrophy Association, European Union, European Research Council, Unión Europea

المصدر: EBioMedicine
EBioMedicine, Elsevier, 2020, 61, pp.103052. ⟨10.1016/j.ebiom.2020.103052⟩
EBioMedicine, 2020, 61, pp.103052. ⟨10.1016/j.ebiom.2020.103052⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)
EBioMedicine, Vol 61, Iss, Pp 103052-(2020)

مصطلحات موضوعية: Male, 0301 basic medicine, Genetic enhancement, [SDV]Life Sciences [q-bio], Gene Expression, lcsh:Medicine, Mice, 0302 clinical medicine, Transduction, Genetic, Medicine, Respiratory function, Muscular dystrophy, Respiratory system, Mice, Knockout, Motor Neurons, lcsh:R5-920, Spinal cord, Glycogen Storage Disease Type II, Homozygote, Gene Transfer Techniques, Pompe disease, AAV, General Medicine, Dependovirus, Prognosis, Immunohistochemistry, 3. Good health, Phenotype, Treatment Outcome, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Acid alpha-glucosidase, Muscle, medicine.symptom, lcsh:Medicine (General), Glycogen, Research Paper, congenital, hereditary, and neonatal diseases and abnormalities, Genetic Vectors, General Biochemistry, Genetics and Molecular Biology, Mouse model, 03 medical and health sciences, Animals, Muscle Strength, Muscle, Skeletal, Alleles, business.industry, lcsh:R, Muscle weakness, Skeletal muscle, nutritional and metabolic diseases, alpha-Glucosidases, Genetic Therapy, medicine.disease, Disease Models, Animal, 030104 developmental biology, Immunology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5c0d93301c622ae98c59c2db3b01cb1
https://hal.sorbonne-universite.fr/hal-03163331/document

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المؤلفون: Alban Vignaud, N. Danièle, L. Julien, A. Piet, Anna Buj-Bello, C. Bogni

المساهمون: Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Généthon

المصدر: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2017, 27, pp.S173. ⟨10.1016/J.NMD.2017.06.291⟩
Neuromuscular Disorders, 2017, 27, pp.S173. ⟨10.1016/J.NMD.2017.06.291⟩

مصطلحات موضوعية: Morpholino, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Biology, Virology, 3. Good health, Cell biology, 03 medical and health sciences, 0302 clinical medicine, Neurology, Murine model, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Myotubular Myopathy, Neurology (clinical), 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Dynamin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a1bbbb5507d493815674b80c908ba29
https://hal.archives-ouvertes.fr/hal-03158867

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