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

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

المؤلفون: Edward M. Kaye, K. Berry, Nathalie Goemans, Lindsay N. Alfano, Eugenio Mercuri, James Shao, Linda Lowes, Jerry R. Mendell

المصدر: Annals of Neurology. 79:257-271

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, medicine.disease, Placebo, Eteplirsen, Exon skipping, Pulmonary function testing, Surgery, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Internal medicine, Ambulatory, medicine, Respiratory muscle, Neurology (clinical), Muscular dystrophy, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e574246330f394154357efdef7a73caTest
https://doi.org/10.1002/ana.24555Test

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 & Nerve

مصطلحات 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

المؤلفون: Nathalie Goemans, Eugenio Mercuri, Elena Belousova, Hirofumi Komaki, Alberto Dubrovsky, Craig M. McDonald, John E. Kraus, Afrodite Lourbakos, Zhengning Lin, Giles Campion, Susanne X. Wang, Craig Campbell, A. Araujo, E. Bertini, P. Born, C. Cances, B. Chabrol, J.-H. Chae, J. Colomer Oferil, G.P. Comi, J.-M. Cuisset, G. D'Anjou, I. Desguerre, R. Erazo Torricelli, R. Escobar, D. Feder, A. Ferlini, R. Giugliani, E. Henricson, A. Herczegfalvi, Y.-J. Jong, S. Kimura, J.-B. Kirschner, K. Kleinsteuber, A. Kostera-Pruszczyk, M. Kudr, W. Mueller-Felber, E.H. Niks, K. Ogata, C. Palermo, M. Pane, I. Pascual, Y. Pereon, S. Raskin, M. Rasmussen, U. Reed, U. Schara, K. Selby, C. Sobreira, Y. Takeshima, J.J. Vilchez Padilla, G. Vita, P. Vondracek, G. Wiegand, E. Wilichowski

المساهمون: Schara, Ulrike (Beitragende*r)

المصدر: Paediatrics Publications
Neuromuscular Disorders
Neuromuscular Disorders, 28(1), 4-15

مصطلحات موضوعية: 0301 basic medicine, Duchenne muscular dystrophy, Male, medicine.medical_specialty, Adolescent, Population, six-minute walking distance, Medizin, Oligonucleotides, Phases of clinical research, Socio-culturale, Motor Activity, Placebo, Pediatrics, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Internal medicine, Statistical significance, Medicine, Humans, Antisense oligonucleotide, education, Adverse effect, Child, Drisapersen, Genetics (clinical), education.field_of_study, business.industry, Perinatology and Child Health, medicine.disease, Muscular Dystrophy, Duchenne, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Neurology (clinical), 6-minute walking distance, antisense oligonucleotide, drisapersen, dystrophin, exon skipping, business, 030217 neurology & neurosurgery, Exon skipping, Biomarkers, Six-minute walking distance

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b23f19cae216fd0ab3f5c58c553a0a7Test
https://pubmed.ncbi.nlm.nih.gov/29203355Test

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 Publications

مصطلحات 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

المؤلفون: L Servais, Ksenija Gorni, Janbernd Kirschner, Y. Cleary, Eugenio Mercuri, W. Yeung, Marianne Gerber, Craig Campbell, Nathalie Goemans, Heidemarie Kletzl, Jeppe Buchbjerg, Omar Khwaja, M Pera, Christian Czech, Giovanni Baranello

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:S31

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Survival of motor neuron, General Medicine, SMN1, Spinal muscular atrophy, SMA, Placebo, medicine.disease, nervous system diseases, nervous system, Neurology, Tolerability, Pharmacokinetics, Internal medicine, medicine, Neurology (clinical), Adverse effect, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9a18015a9b40a6ff28a3f3702bb2b47dTest
https://doi.org/10.1017/cjn.2019.163Test

المؤلفون: Gunnar M. Buyse, Marleen Van den Hauwe, Thomas Meier, Nathalie Goemans

المصدر: Pediatric Pulmonology. 48:912-920

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, education.field_of_study, Vital capacity, business.industry, Duchenne muscular dystrophy, Population, medicine.disease, Placebo, Surgery, FEV1/FVC ratio, Internal medicine, Concomitant, Pediatrics, Perinatology and Child Health, medicine, Cardiology, Idebenone, Respiratory function, business, education, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::49968df2208de4a9df7347f998cba24fTest
https://doi.org/10.1002/ppul.22688Test

المؤلفون: Gunnar M. Buyse, Imelda J. M. de Groot, Daisy Thijs, Berten Ceulemans, Ulrike Schara, Marleen Van den Hauwe, Nathalie Goemans, Thomas Meier, Luc Mertens

المصدر: Neuromuscular disorders
Neuromuscular Disorders, 21, 396-405
Neuromuscular Disorders, 21, 6, pp. 396-405

مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, Human Movement & Fatigue DCN 1: Perception and Action [NCEBP 10], Adolescent, Ubiquinone, Duchenne muscular dystrophy, Vital Capacity, Placebo-controlled study, Medizin, Placebo, Antioxidants, law.invention, Randomized controlled trial, Double-Blind Method, law, Forced Expiratory Volume, Natriuretic Peptide, Brain, medicine, Idebenone, Humans, Respiratory function, Longitudinal Studies, Muscle Strength, Child, Genetics (clinical), Dose-Response Relationship, Drug, business.industry, Troponin I, medicine.disease, Surgery, Clinical trial, Muscular Dystrophy, Duchenne, Treatment Outcome, Neurology, Tolerability, Anesthesia, Pediatrics, Perinatology and Child Health, Disease Progression, Human Movement & Fatigue Perception and Action [NCEBP 10], Neurology (clinical), Human medicine, business, medicine.drug

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58169882307d3fa2793715c30e602010Test
https://hdl.handle.net/2066/95981Test

المؤلفون: James Signorovitch, S. Ward, Nathalie Goemans, Eugenio Mercuri, Erin McDonnell, Zhiwen Yao, Gautam Sajeev

المصدر: Neuromuscular Disorders. 27:S232

مصطلحات موضوعية: SIX MINUTE WALK, medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, medicine.disease, Placebo, Clinical trial, Natural history, Physical medicine and rehabilitation, Neurology, Consistency (statistics), Pediatrics, Perinatology and Child Health, medicine, Physical therapy, In patient, Neurology (clinical), business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a5bc1e86978f0c6ec8f9a8e3cca9f398Test
https://doi.org/10.1016/j.nmd.2017.06.493Test