المؤلفون: Jacob A. Ross, Hichem Tasfaout, Yotam Levy, Jennifer Morgan, Belinda S. Cowling, Jocelyn Laporte, Edmar Zanoteli, Norma B. Romero, Dawn A. Lowe, Heinz Jungbluth, Michael W. Lawlor, David L. Mack, Julien Ochala

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)

مصطلحات موضوعية: Skeletal muscle, Congenital myopathy, Myotubularin, Myonuclear domain, Myofilament, Force production, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-020-01048-8; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/55ca501951e441d78e15f5e6268bd740

المؤلفون: Ivana Prokic, Belinda S. Cowling, Candice Kutchukian, Christine Kretz, Hichem Tasfaout, Vincent Gache, Josiane Hergueux, Olivia Wendling, Arnaud Ferry, Anne Toussaint, Christos Gavriilidis, Vasugi Nattarayan, Catherine Koch, Jeanne Lainé, Roy Combe, Laurent Tiret, Vincent Jacquemond, Fanny Pilot-Storck, Jocelyn Laporte

المصدر: Disease Models & Mechanisms, Vol 13, Iss 11 (2020)

مصطلحات موضوعية: myotubular myopathy, centronuclear myopathy, xlmtm, sh3 domain, bar domain, myotonic dystrophy, triad, dynamin, myoblast fusion, animal model, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/13/11/dmm044354; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/2e6f69d140844d328b78b1db7cb69e25

المؤلفون: Hichem Tasfaout, Suzie Buono, Shuling Guo, Christine Kretz, Nadia Messaddeq, Sheri Booten, Sarah Greenlee, Brett P. Monia, Belinda S. Cowling, Jocelyn Laporte

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ea5ef61a87bf47839d28720d6a64f759

المؤلفون: Hichem Tasfaout, Niclas E. Bengtsson, Stephen D. Hauschka, Jeffrey S. Chamberlain

المصدر: Mol Ther

مصطلحات موضوعية: Male, Necrosis, Duchenne muscular dystrophy, Genetic Vectors, Degeneration (medical), Dystrophin, Mice, 03 medical and health sciences, 0302 clinical medicine, Genome editing, Drug Discovery, Genetics, medicine, Animals, Myocytes, Cardiac, Guide RNA, Muscle, Skeletal, Molecular Biology, 030304 developmental biology, Gene Editing, Pharmacology, 0303 health sciences, biology, Myocardium, Regeneration (biology), Skeletal muscle, Genetic Therapy, Dependovirus, Muscular Dystrophy, Animal, medicine.disease, Cell biology, Mice, Inbred C57BL, Muscular Dystrophy, Duchenne, Disease Models, Animal, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, biology.protein, Molecular Medicine, Original Article, CRISPR-Cas Systems, medicine.symptom, RNA, Guide, Kinetoplastida

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418b4b5a189776174b4dca1a60b402ff
https://doi.org/10.1016/j.ymthe.2020.11.003

المؤلفون: Jocelyn Laporte, Belinda S. Cowling, Hichem Tasfaout

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: oligonucleotide, 0301 basic medicine, autophagy, Myotubularin, Review, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, dynamin, medicine, Animals, Humans, Centronuclear myopathy, myotubular myopathy, amphiphysin, Dynamin, RYR1, Genetic heterogeneity, Muscle weakness, phosphoinositides, medicine.disease, gene therapy, Phenotype, myotubularin, 030104 developmental biology, Neurology, Amphiphysin, neuropathy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96211fa885921fdbafa3eb0a0b57d74b
https://doi.org/10.3233/jnd-180309

المؤلفون: Suzie Buono, Jacob A. Ross, Shuling Guo, Christine Kretz, Julien Ochala, Brett P. Monia, Jocelyn Laporte, Leighla Tayefeh, Hichem Tasfaout, John Matson, Yotam Levy, Marc Bitoun, Pascal Kessler, Belinda S. Cowling

المصدر: Proceedings of the National Academy of Sciences. 115:11066-11071

مصطلحات موضوعية: Male, 0301 basic medicine, Myotubularin, Biology, medicine.disease_cause, Dynamin II, Mice, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Centronuclear myopathy, Muscle, Skeletal, Myopathy, Dynamin, Mutation, Multidisciplinary, Skeletal muscle, Biological Sciences, Protein Tyrosine Phosphatases, Non-Receptor, medicine.disease, Congenital myopathy, Mice, Inbred C57BL, DNM2, 030104 developmental biology, medicine.anatomical_structure, Cancer research, medicine.symptom, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8104160e7b108c8f3de172931b3984ee
https://doi.org/10.1073/pnas.1808170115

المؤلفون: Belinda S. Cowling, Julien Ochala, Jocelyn Laporte, Edmar Zanoteli, David L. Mack, Jennifer E. Morgan, Yotam Levy, Hichem Tasfaout, Heinz Jungbluth, Michael W. Lawlor, Jacob A. Ross, Dawn A. Lowe, Norma B. Romero

المساهمون: King‘s College London, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University College of London [London] (UCL), Universidade de São Paulo Medical School (FMUSP), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), University of Minnesota [Twin Cities] (UMN), University of Minnesota System, Guy's and St Thomas' Hospital [London], Institute of Psychiatry, Psychology & Neuroscience, King's College London, Medical College of Wisconsin [Milwaukee] (MCW), University of Washington [Seattle], IT University of Copenhagen, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), IT University of Copenhagen (ITU), Gestionnaire, Hal Sorbonne Université

المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2020, 8 (1), pp.167. ⟨10.1186/s40478-020-01048-8⟩
Acta Neuropathologica Communications, 2020, 8 (1), pp.167. ⟨10.1186/s40478-020-01048-8⟩
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
Ross, J A, Tasfaout, H, Levy, Y, Morgan, J, Cowling, B S, Laporte, J, Zanoteli, E, Romero, N B, Lowe, D A, Jungbluth, H, Lawlor, M W, Mack, D L & Ochala, J 2020, ' rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy ', Acta Neuropathologica Communications, vol. 8, no. 1, 167 . https://doi.org/10.1186/s40478-020-01048-8

مصطلحات موضوعية: Male, Myofilament, Myotubularin, Genetic enhancement, Muscle Fibers, Skeletal, Skeletal muscle, lcsh:RC346-429, Mice, 0302 clinical medicine, Myofibrils, Congenital myopathy, 0303 health sciences, education.field_of_study, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Dependovirus, Protein Tyrosine Phosphatases, Non-Receptor, X-linked myotubular myopathy, Cell biology, Phenotype, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Muscle Contraction, Myopathies, Structural, Congenital, Adult, Adolescent, Force production, Genetic Vectors, Population, Biology, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Dogs, medicine, Animals, Humans, Myonuclear domain, education, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Research, Infant, Muscle weakness, Genetic Therapy, medicine.disease, Disease Models, Animal, Microscopy, Electron, Neurology (clinical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54e5bfe44d5d8a73278b2aaeb3dacef
https://doi.org/10.1186/s40478-020-01048-8

المؤلفون: Vincent Gache, Arnaud Ferry, Fanny Pilot-Storck, Olivia Wendling, Vincent Jacquemond, Vasugi Nattarayan, Jeanne Lainé, Jocelyn Laporte, Christine Kretz, Hichem Tasfaout, Roy Combe, Josiane Hergueux, Anne Toussaint, Christos Gavriilidis, Catherine Koch, Belinda S. Cowling, Candice Kutchukian, Ivana Prokic, Laurent Tiret

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut Clinique de la Souris (ICS), Biologie du système neuromusculaire - Biology of the neuromuscular system [Maisons-Alfort] (BNMS - Team 10), École nationale vétérinaire - Alfort (ENVA)-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Strasbourg (UNISTRA), École nationale vétérinaire d'Alfort (ENVA)-Institut Mondor de Recherche Biomédicale (IMRB), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Gestionnaire, HAL Sorbonne Université 5, BLANC - Mécano-sensation et mécano-stabilisation au cours de la morphogenèse embryonnaire - - SenStable2011 - ANR-11-BSV2-0023 - BLANC - VALID, ANR-11-BSV2-0023,SenStable,Mécano-sensation et mécano-stabilisation au cours de la morphogenèse embryonnaire(2011), Université de Lyon

المصدر: Disease Models & Mechanisms
Disease Models & Mechanisms, Cambridge Company of Biologists, In press, ⟨10.1242/dmm.044354⟩
Disease Models & Mechanisms, In press, ⟨10.1242/dmm.044354⟩
Disease Models & Mechanisms, Vol 13, Iss 11 (2020)
article-version (VoR) Version of Record
Disease Models & Mechanisms, Cambridge Company of Biologists, 2020, pp.dmm.044354. ⟨10.1242/dmm.044354⟩

مصطلحات موضوعية: XLMTM, [SDV]Life Sciences [q-bio], Muscle Fibers, Skeletal, lcsh:Medicine, Medicine (miscellaneous), Muscle Development, centronuclear myopathy, SH3 domain, Myoblast fusion, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), myoblast fusion, Protein Isoforms, myotubular myopathy, ComputingMilieux_MISCELLANEOUS, Sequence Deletion, 0303 health sciences, triad, Homozygote, Exons, Cell biology, medicine.anatomical_structure, Organ Specificity, Knockout mouse, Intracellular, Research Article, lcsh:RB1-214, Gene isoform, Neuroscience (miscellaneous), Nerve Tissue Proteins, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, dynamin, lcsh:Pathology, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Animals, Regeneration, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Centronuclear myopathy, Muscle, Skeletal, Adaptor Proteins, Signal Transducing, 030304 developmental biology, Dynamin, myotonic dystrophy, Tumor Suppressor Proteins, Regeneration (biology), animal model, lcsh:R, Skeletal muscle, Feeding Behavior, medicine.disease, Survival Analysis, Mice, Inbred C57BL, Animals, Newborn, BAR domain, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3e54486dc722b23b7a97d57177a4858
https://hal.sorbonne-universite.fr/hal-02964521

المؤلفون: Hichem Tasfaout, Ivana Prokic, Arnaud Ferry, Catherine Koch, Fanny Pilot-Storck, Laurent Tiret, Candice Kutchukian, Christine Kretz, Jocelyn Laporte, Belinda S. Cowling, Jeanne Lainné, Vasugi Nattarayan, Josiane Hergueux, Vincent Jacquemond, Christos Gavriilidis, Olivia Wendling, Roy Combe, Anne Toussaint

مصطلحات موضوعية: Gene isoform, 0303 health sciences, Regeneration (biology), Skeletal muscle, Biology, medicine.disease, Cell biology, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine.anatomical_structure, Organelle, Knockout mouse, medicine, Centronuclear myopathy, 030217 neurology & neurosurgery, Intracellular, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa0bcdadca457109ccb1328cfb4c95fb
https://doi.org/10.1101/477950

المؤلفون: Belinda S. Cowling, Jocelyn Laporte, Deborah Bitz, Pascale Koebel, Hichem Tasfaout, Nadia Messaddeq, Christine Kretz, Valentina M. Lionello

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), French National Infrastructure for Mouse Phenogenomics (PHENOMIN), Institut Clinique de la Souris, univOAK, Archive ouverte

المصدر: Molecular Therary
Molecular Therary, 2018, 26 (4), pp.1082-1092. ⟨10.1016/j.ymthe.2018.02.008⟩

مصطلحات موضوعية: 0301 basic medicine, Male, XLMTM, Myotubularin, [CHIM.THER]Chemical Sciences/Medicinal Chemistry, centronuclear myopathy, Small hairpin RNA, Dynamin II, Mice, shRNA, Drug Discovery, congenital myopathy, RNA, Small Interfering, Mice, Knockout, Gene knockdown, AAV, Dependovirus, Immunohistochemistry, 3. Good health, myotubularin, Phenotype, Treatment Outcome, Gene Knockdown Techniques, Molecular Medicine, Original Article, RNA Interference, medicine.symptom, Myopathies, Structural, Congenital, MTM1, [CHIM.THER] Chemical Sciences/Medicinal Chemistry, Genetic Vectors, Muscle disorder, Injections, Intramuscular, 03 medical and health sciences, dynamin, Genetics, medicine, Animals, RNA, Messenger, Centronuclear myopathy, Myopathy, Muscle, Skeletal, Molecular Biology, Pharmacology, business.industry, Muscle weakness, X-linked myotubular myopathy, Genetic Therapy, DNM2, medicine.disease, Disease Models, Animal, 030104 developmental biology, Cancer research, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667875491a7bda321914b00c68b5e27b
https://hal.science/hal-03671915