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المؤلفون: Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose
المصدر: Paediatrics Publications
مصطلحات موضوعية: Duchenne muscular dystrophy, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Prednisolone, Population, Nonsense mutation, Placebo, chemistry.chemical_compound, Pregnenediones, Prednisone, Internal medicine, medicine, Humans, education, deflazacort, Retrospective Studies, education.field_of_study, business.industry, Health Policy, prednisolone, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Deflazacort, meta-analysis, chemistry, Codon, Nonsense, prednisone, business, medicine.drug
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7Test
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdfTest -
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المؤلفون: Monique M. Ryan, Craig Campbell, Juan J. Vílchez, Brigitte Chabrol, Panayiota Trifillis, Joseph McIntosh, Mar Tulinius, Eugenio Mercuri, Stuart W. Peltz, Kristi J. Jones, Yann Péreón, Basil T. Darras, Thomas Sejersen, Giacomo P. Comi, Kathryn Selby, Jean K. Mah, Marcio Souza, Enrico Bertini, Thomas Voit, Brenda L. Wong, Nathalie Goemans, Francesco Muntoni, Ulrike Schara, Jacinda B. Sampson, Susan T. Iannaccone, Gary Elfring, Janbernd Kirschner, Craig M. McDonald, Yoram Nevo, Lee-Jen Wei, Richard S. Finkel, J. Ben Renfroe, Katherine D. Mathews, Richard J. Barohn, Kevin M. Flanigan
المصدر: Paediatrics Publications
مصطلحات موضوعية: Duchenne muscular dystrophy, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Nonsense mutation, efficacy, MULTICENTER, Medizin, Placebo, law.invention, Efficacy, 03 medical and health sciences, chemistry.chemical_compound, 6-MINUTE WALK TEST, 0302 clinical medicine, Randomized controlled trial, law, Internal medicine, END-POINTS, medicine, Humans, Muscular Dystrophy, Muscular dystrophy, Codon, 030304 developmental biology, Randomized Controlled Trials as Topic, 0303 health sciences, Oxadiazoles, Science & Technology, business.industry, Health Policy, ataluren, medicine.disease, Duchenne, Ataluren, Muscular Dystrophy, Duchenne, 6-minute walk distance, Health Care Sciences & Services, chemistry, Nonsense, meta-analyses, Codon, Nonsense, Ambulatory, randomized controlled trials, business, Life Sciences & Biomedicine, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::921c77381755297d0bab3f2e9a88f720Test
https://pubmed.ncbi.nlm.nih.gov/32851872Test -
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المؤلفون: Nathalie Goemans, Brenda Wong, Marleen Van den Hauwe, James Signorovitch, Gautam Sajeev, David Cox, John Landry, Madeline Jenkins, Ibrahima Dieye, Zhiwen Yao, Intekhab Hossain, Susan J Ward, Collaborative Trajectory Analysis Project (cTAP)
المصدر: PLoS ONE, Vol 15, Iss 6, p e0232870 (2020)
PLoS ONEمصطلحات موضوعية: 0301 basic medicine, Male, Heredity, Physiology, Genetic Linkage, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, 030105 genetics & heredity, Pediatrics, Muscular Dystrophies, DISEASE, law.invention, Tadalafil, Efficacy, 0302 clinical medicine, Randomized controlled trial, DESIGN, law, Medicine and Health Sciences, Medicine, Child, Multidisciplinary, Organic Compounds, Prognosis, Phase III clinical investigation, Multidisciplinary Sciences, Chemistry, Neurology, Neuromuscular Agents, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Science & Technology - Other Topics, Steroids, TRIAL, Research Article, medicine.medical_specialty, Drug Research and Development, Adolescent, Science, ATALUREN, Placebo, Research and Analysis Methods, 03 medical and health sciences, DRISAPERSEN, Diagnostic Medicine, Genetics, Humans, Clinical Trials, Computer Simulation, Clinical Genetics, Pharmacology, Science & Technology, business.industry, Biological Locomotion, Clinical study design, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, Sample size determination, Sample Size, Physical therapy, Exercise Test, Clinical Medicine, business, 030217 neurology & neurosurgery, Follow-Up Studies
وصف الملف: Electronic-eCollection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c05aa276ab26d60ebede754c9790ea90Test
https://lirias.kuleuven.be/handle/20.500.12942/704020Test -
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المؤلفون: Katharine, Bushby, Richard, Finkel, Brenda, Wong, Richard, Barohn, Craig, Campbell, Giacomo P, Comi, Anne M, Connolly, John W, Day, Kevin M, Flanigan, Nathalie, Goemans, Kristi J, Jones, Eugenio, Mercuri, Ros, Quinlivan, James B, Renfroe, Barry, Russman, Monique M, Ryan, Mar, Tulinius, Thomas, Voit, Steven A, Moore, H, Lee Sweeney, Richard T, Abresch, Kim L, Coleman, Michelle, Eagle, Julaine, Florence, Eduard, Gappmaier, Allan M, Glanzman, Erik, Henricson, Jay, Barth, Gary L, Elfring, Allen, Reha, Robert J, Spiegel, Michael W, O'donnell, Stuart W, Peltz, Craig M, Mcdonald, Kathleen, Ollendick
المصدر: Paediatrics Publications
Muscle & Nerveمصطلحات موضوعية: Male, Pediatrics, Time Factors, Physiology, International Cooperation, Duchenne muscular dystrophy, nonsense mutation, Walking, Dystrophin, Orphan, chemistry.chemical_compound, 0302 clinical medicine, Outcome Assessment, Health Care, Clinical endpoint, Muscular Dystrophy, Prospective Studies, Child, Prospective cohort study, Pediatric, Oxadiazoles, 0303 health sciences, Nonsense mutation, 3. Good health, Codon, Nonsense, Child, Preschool, Drug, medicine.medical_specialty, Adolescent, Muscle disorder, Eteplirsen, Placebo, Dose-Response Relationship, Outcome Assessment (Health Care), 03 medical and health sciences, Cellular and Molecular Neuroscience, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Genetic, Physiology (medical), medicine, Humans, Preschool, Codon, 030304 developmental biology, Dose-Response Relationship, Drug, business.industry, Main Articles, Duchenne, medicine.disease, orphan, Ataluren, Muscular Dystrophy, Duchenne, pediatric, Nonsense, chemistry, Neurology (clinical), genetic, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0578329d6b528d6b608a1d76377c5da7Test
https://doi.org/10.1002/mus.24332Test -
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المؤلفون: Janbernd Kirschner, S. Fontaine-Carbonnel, Giuseppe Vita, Enrico Bertini, François Rivier, Nathalie Goemans, W. Ludo van der Pol, Mariacristina Scoto, Brigitte Chabrol, Carole Vuillerot, Helen Roper, Alessandra Govoni, Maggie C. Walter, Jeppe Buchbjerg, Anna Lusakowska, Ulrike Schara, Eugenio Mercuri, Jean Louis Abitbol, Thomas Blaettler, Nicolas Deconinck, Michela Guglieri, Eduardo Vianna, Claudio Bruno, Jean Marie Cuisset, Francesco Muntoni, Carol Reid, Eric Dessaud, Hanns Lochmüller, Giacomo P. Comi, Brigitte Estournet, Patricia Sanwald Ducray, Carole André, Francesca Magri, Bruno Scherrer, Leonard H. van den Berg, Paulo Fontoura, Ksenija Gorni, Wolfgang Müller-Felber, Michèle Mayer
المساهمون: Schara, Ulrike (Beitragende*r)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Medizin, Phases of clinical research, Spinal Muscular Atrophies of Childhood, Placebo, law.invention, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, Outcome Assessment (Health Care), 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Randomized controlled trial, Double-Blind Method, law, Outcome Assessment, Health Care, Clinical endpoint, medicine, Humans, Mobility Limitation, education, Adverse effect, Child, Preschool, Cholestenones, education.field_of_study, business.industry, Child, Preschool, Female, Neuroprotective Agents, Neurology (clinical), Clinical trial, 030104 developmental biology, chemistry, N/A, Olesoxime, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bad810ec4902101d89d04fe23c17c79Test
http://hdl.handle.net/11570/3114831Test -
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المؤلفون: Nathalie Goemans, Perry B. Shieh, Eugenio Mercuri, M. James, Maria Bernadete Dutra de Resende, Kathryn Selby, Jean K. Mah, Brigitte Chabrol, Juan J. Vílchez, Andrés Nascimento Osorio, Yann Péréon, Linda Lowes, Gihan Tennekoon, Leslie Nelson, Jahannaz Dastgir, Janbernd Kirschner, Thomas Voit, Haluk Topaloglu, Joseph McIntosh, Marcio Souza, Francesco Muntoni, Susan D. Apkon, Richard S. Finkel, Enrico Bertini, R. Spiegel, Kristi J. Jones, Timothy Lotze, Julie A. Parsons, Peter Riebling, Kristy Rose, Giuseppe Vita, H. Kroger, Tuyen Ong, H. Lee Sweeney, Susan T. Iannaccone, Michela Guglieri, Craig Campbell, Kevin M. Flanigan, Clemens Bloetzer, Xiaohui Luo, Peter Heydemann, Michelle Eagle, Anna Kamińska, Stuart W. Peltz, Peter I. Karachunski, Martin Kudr, Giacomi Pietro Comi, Hoda Abdel-Hamid, Lausanne Canton de Vaud, Craig M. McDonald, Basil T. Darras, Yoram Nevo, Ulrike Schara, Alexandra Prufer de Queiroz Campos Araujo, Lindsay N. Alfano, Russell J. Butterfield, J. Ben Renfroe, Thomas Sejersen, Erika Finanger, Gary Elfring, Katherine D. Mathews, Jong-Hee Chae, Isabelle Desguerre, Daehak-ro Jongno-gu, Raul G Escobar, Elena S. Mazzone, Anna Mayhew, Brenda Wong, Richard J. Barohn, Monique M. Ryan, Imelda Hughes, Ricardo Erazo Torricelli, Mar Tulinius
المصدر: Lancet
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Paediatrics Publicationsمصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Patients, Adolescent, Population, Nonsense mutation, Medizin, Subgroup analysis, Walking, Placebo, Global Health, Muscular Dystrophies, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Clinical endpoint, Medicine, Humans, Muscular Dystrophy, education, Child, Muscular Dystrophy, Duchenne, Muscular Dystrophies, Patients, education.field_of_study, Oxadiazoles, Intention-to-treat analysis, business.industry, duchenne, General Medicine, Ataluren, Muscular Dystrophy, Duchenne, 030104 developmental biology, Treatment Outcome, chemistry, Codon, Nonsense, Ambulatory, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595d3fa7afbaf20dfa8bca3b7d7c45eaTest
https://pubmed.ncbi.nlm.nih.gov/28728957Test -
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المؤلفون: E. Bertini, Anna Lusakowska, L. H. van den Berg, W. Hauke, Bruno Scherrer, P. Berna, C. André, Janbernd Kirschner, Nathalie Goemans, Eugenio Mercuri, Gianluca Vita, M. Mayer, Brigitte Estournet, Brigitte Chabrol, M. Walter, R. Pruss, S. Fontaine-Carbonel, Ulrike Schara, Ksenija Gorni, Claudio Bruno, Wolfgang Müller-Felber, Francesco Muntoni, Nicolas Deconinck, H. Roper, François Rivier, G. Comi, Jean-Marie Cuisset, Eric Dessaud, Hanns Lochmüller, V. Cuvier
المصدر: Neuromuscular Disorders. 24:920-921
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Spinal muscular atrophy, medicine.disease, Placebo, SMA, Surgery, Pulmonary function testing, Clinical trial, chemistry.chemical_compound, Neurology, chemistry, Anesthesia, Pediatrics, Perinatology and Child Health, medicine, Clinical endpoint, Olesoxime, Neurology (clinical), Adverse effect, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::64e01fd40621b2987e5b259c21980ef2Test
https://doi.org/10.1016/j.nmd.2014.06.418Test