المؤلفون: Marie Reinbigler, Jérémie Cosette, Zoheir Guesmia, Simon Jimenez, Catalin Fetita, Elisabeth Brunet, Daniel Stockholm

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/3e351c2b9a7c479ea6f01bbaf1d997ac

المؤلفون: Lucille Rossiaud, Pascal Fragner, Elena Barbon, Antoine Gardin, Manon Benabides, Emilie Pellier, Jérémie Cosette, Lina El Kassar, Karine Giraud-Triboult, Xavier Nissan, Giuseppe Ronzitti, Lucile Hoch

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: induced pluripotent stem cell, glycogen storage disease, muscular disorders, skeletal muscle cell, CRISPR/Cas9, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1163427/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/3fb7ea44045d4969bdae8d1733b5cf40

المؤلفون: David Israeli, Jérémie Cosette, Guillaume Corre, Fatima Amor, Jérôme Poupiot, Daniel Stockholm, Marie Montus, Bernard Gjata, Isabelle Richard

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 13, Iss , Pp 494-502 (2019)

مصطلحات موضوعية: Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050119300439; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/ee8e06cdf9eb4628b70c764a33633dd6

المؤلفون: Alice Moussy, Jérémie Cosette, Romuald Parmentier, Cindy da Silva, Guillaume Corre, Angélique Richard, Olivier Gandrillon, Daniel Stockholm, András Páldi

المصدر: PLoS Biology, Vol 15, Iss 7, p e2001867 (2017)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/d09a825802d84e74adc7de0705bd2b4e

المؤلفون: Angélique Richard, Loïs Boullu, Ulysse Herbach, Arnaud Bonnafoux, Valérie Morin, Elodie Vallin, Anissa Guillemin, Nan Papili Gao, Rudiyanto Gunawan, Jérémie Cosette, Ophélie Arnaud, Jean-Jacques Kupiec, Thibault Espinasse, Sandrine Gonin-Giraud, Olivier Gandrillon

المصدر: PLoS Biology, Vol 14, Iss 12, p e1002585 (2016)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5191835?pdf=render; https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/8f65cf0970984834976de58c5e0778bc

المؤلفون: Martina Marinello, author^{1, 2}, Jérémie Cosette, author¹, Caroline Bogni, author^{1, 2}, Jérôme Denard, author^{1, 2}, Daniel Stockholm, author^{1, 3}, Ana Buj-Bello, author^{1, 2}

المصدر: Journal of Visualized Experiments. (178)

الإتاحة: http://www.jove.com/video/63032

المؤلفون: Ana Buj-Bello, Daniel Stockholm, Jérôme Denard, Caroline Bogni, Jérémie Cosette, Martina Marinello

المصدر: Journal of Visualized Experiments.

مصطلحات موضوعية: Motor Neurons, Mice, Microscopy, General Immunology and Microbiology, General Chemical Engineering, General Neuroscience, Amyotrophic Lateral Sclerosis, Neuromuscular Junction, Animals, Muscle, Skeletal, Synaptic Transmission, General Biochemistry, Genetics and Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255a3eebcbdcc15c5aedd18f0060b530
https://doi.org/10.3791/63032-v

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: Jérémie Cosette, Henk Granzier, Zaher Elbeck, Joshua Strom, Simone Spinozzi, Ariane Biquand, William Lostal, Paola Tonino, Isabelle Richard, Ralph Knöll

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, University of Arizona, Karolinska Institutet [Stockholm], AstraZeneca, Richard, Isabelle

المصدر: Journal of Cell Science
Journal of Cell Science, Company of Biologists, 2021, 134 (18), ⟨10.1242/jcs.258684⟩
J Cell Sci
Journal of Cell Science, 2021, 134 (18), ⟨10.1242/jcs.258684⟩

مصطلحات موضوعية: Cardiomyopathy, Dilated, Sarcomeres, Gene isoform, Cardiac function curve, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, Cardiomyopathy, Titin, Mex5, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 030204 cardiovascular system & hematology, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Mice, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Animals, Connectin, Sarcomere organization, Insertion sequence, 030304 developmental biology, Heart Failure, Is7, 0303 health sciences, biology, Alternative splicing, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Cell Biology, medicine.disease, [SDV.BIO] Life Sciences [q-bio]/Biotechnology, Cell biology, Alternative Splicing, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DNA Transposable Elements, biology.protein, Protein Kinases, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aae4ac930694d877297f3cfb8540fe03
https://doi.org/10.1242/jcs.258684

المؤلفون: Fatima Amor, Marie Montus, David Israeli, Jérémie Cosette, Daniel Stockholm, Isabelle Richard, Guillaume Corre, Jerome Poupiot, Bernard Gjata

المساهمون: Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École pratique des hautes études (EPHE)-Université d'Évry-Val-d'Essonne (UEVE)-GENETHON 3-Institut National de la Santé et de la Recherche Médicale (INSERM), Généthon, Evry, Généthon, Genethon, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, École Pratique des Hautes Études (EPHE), CCSD, Accord Elsevier

المصدر: Molecular Therapy-Methods & Clinical Development
Molecular Therapy-Methods & Clinical Development, 2019, 13, pp.494-502. ⟨10.1016/j.omtm.2019.04.007⟩
Molecular Therapy: Methods & Clinical Development, Vol 13, Iss, Pp 494-502 (2019)
Molecular Therapy-Methods and Clinical Development
Molecular Therapy-Methods and Clinical Development, Nature Publishing Group, 2019, 13, pp.494-502. ⟨10.1016/j.omtm.2019.04.007⟩
Molecular Therapy. Methods & Clinical Development
Molecular Therapy-Methods and Clinical Development, 2019, 13, pp.494-502. ⟨10.1016/j.omtm.2019.04.007⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, [SDV.GEN] Life Sciences [q-bio]/Genetics, γ-sarcoglycanopathy, translational medicine, 0302 clinical medicine, limb girdle muscular dystrophy, ComputingMilieux_MISCELLANEOUS, [SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Sarcoglycans, lcsh:Cytology, AAV, musculoskeletal system, gene therapy, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, Cell biology, 030220 oncology & carcinogenesis, miRNA biomarker, Molecular Medicine, [SDV.IMM]Life Sciences [q-bio]/Immunology, Sarcoglycanopathies, musculoskeletal diseases, [SDV.IMM] Life Sciences [q-bio]/Immunology, lcsh:QH426-470, Context (language use), [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, Article, 03 medical and health sciences, SGCG, Glycoprotein complex, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Genetics, medicine, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, lcsh:QH573-671, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Molecular Biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Sarcolemma, mechanical stress, medicine.disease, [SDV.BIO] Life Sciences [q-bio]/Biotechnology, lcsh:Genetics, 030104 developmental biology, Sarcoglycanopathy, LGMD2C, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77857d5515693179d4cabff47b4d6523
https://hal-univ-evry.archives-ouvertes.fr/hal-02178338