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المؤلفون: S. de Kimpe, D. de Klerk, Monika Hiller, Jan J.G.M. Verschuuren, Annemieke Aartsma-Rus, R. Jean-Baptiste, Francesco Muntoni, Mar Tulinius, Afrodite Lourbakos, Peter Nilsson, Zaïda Koeks, K. Kozaczynska, G. Campion, Nathalie Goemans, Pietro Spitali, Burcu Ayoglu, Ron Wolterbeek, Vishna Devi Nadarajah, N. Yau, Peter A C 't Hoen, Erik H. Niks, Mojgan Reza, Hanns Lochmüller, P. de Bruijn, C. Al-Khalili Szigyarto, Irina Zaharieva
المصدر: Scientific Reports
Scientific Reports, 7
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, Adolescent, government.form_of_government, Duchenne muscular dystrophy, Placebo-controlled study, lcsh:Medicine, Muscle disorder, Article, Dystrophin, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Double-Blind Method, Internal medicine, Medicine, Humans, Longitudinal Studies, Muscular dystrophy, lcsh:Science, Child, Drisapersen, Randomized Controlled Trials as Topic, Antisense therapy, Multidisciplinary, biology, business.industry, lcsh:R, Exons, Oligonucleotides, Antisense, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, 030104 developmental biology, Clinical Trials, Phase III as Topic, Matrix Metalloproteinase 9, Child, Preschool, government, biology.protein, lcsh:Q, Female, business, 030217 neurology & neurosurgery, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e00690df27119c632541d5bb3e76d3aTest
https://hdl.handle.net/1887/115152Test -
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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: 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), 4-15مصطلحات 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 -
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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: Elyse Swallow, Collaborative Trajectory Analysis, Marleen Van den Hauwe, James Signorovitch, Jinlin Song, Nathalie Goemans
المصدر: PLoS ONE
PLoS ONE, Vol 11, Iss 10, p e0164684 (2016)مصطلحات موضوعية: Male, Heredity, Supine position, Physiology, Genetic Linkage, Epidemiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Biochemistry, Muscular Dystrophies, Standard deviation, Dystrophin, Mathematical and Statistical Techniques, 0302 clinical medicine, Medicine and Health Sciences, Biomechanics, Child, Multidisciplinary, Organic Compounds, Age Factors, Prognosis, Explained variation, Chemistry, Neurology, X-Linked Traits, Sex Linkage, Child, Preschool, 030220 oncology & carcinogenesis, Physical Sciences, Ambulatory, Medicine, Steroids, Statistics (Mathematics), Research Article, medicine.medical_specialty, Drug Research and Development, Adolescent, Genotype, Science, Research and Analysis Methods, Natural history of disease, 03 medical and health sciences, Diagnostic Medicine, Genetics, medicine, Humans, Clinical Trials, Statistical Methods, Clinical Genetics, Pharmacology, Biological Locomotion, business.industry, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Proteins, Repeated measures design, Models, Theoretical, medicine.disease, Muscular Dystrophy, Duchenne, Clinical trial, Cytoskeletal Proteins, Natural History of Disease, Exercise Test, Physical therapy, Clinical Medicine, business, Mathematics, 030217 neurology & neurosurgery, Follow-Up Studies, Forecasting
وصف الملف: Electronic-eCollection; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::549f2e150970d8e439ec6a09f9e507a6Test
http://dx.plos.org/10.1371/journal.pone.0164684Test -
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المؤلفون: Christine Wittevrongel, Nathalie Goemans, Veerle Labarque, Marc Hoylaerts, Rita Vos, Chris Van Geet, Chantal Thys, Kathleen Freson
المصدر: Human Molecular Genetics. 17:357-366
مصطلحات موضوعية: Blood Platelets, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Gs alpha subunit, Cytoskeleton organization, Duchenne muscular dystrophy, Blood Loss, Surgical, In Vitro Techniques, Dystrophin, Extracellular matrix, Von Willebrand factor, Laminin, Internal medicine, GTP-Binding Protein alpha Subunits, Gs, Genetics, medicine, Humans, Platelet, Child, Molecular Biology, Cytoskeleton, Genetics (clinical), biology, General Medicine, Platelet Activation, medicine.disease, Muscular Dystrophy, Duchenne, Spinal Fusion, Endocrinology, Case-Control Studies, Mutation, biology.protein, Collagen, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1091c5b84531e98de52d17c5e3fde29bTest
https://doi.org/10.1093/hmg/ddm312Test -
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المؤلفون: Claudio Bruno, Tiziana Mongini, Silvia Frosini, Sonia Messina, Enrica Rolle, Stefano C. Previtali, Francesca Gualandi, Roberto De Sanctis, Marika Pane, Gian Luca Vita, Filippo Cavallaro, Adele D'Amico, Paola D'Ambrosio, Angela Berardinelli, Roberta Battini, Luca Bello, Giovanni Baranello, Lucia Morandi, Giacomo P. Comi, Luisa Politano, Maria Teresa Arnoldi, Enrico Bertini, Elena S. Mazzone, Francesca Rossi, Concetta Palermo, Nathalie Goemans, Marlene Van der Haawue, Antonella Pini, Maria Alice Donati, Alessandra Ferlini, Yvan Torrente, Elena Pegoraro, Chiara Alfonsi, Roberta Scalise, Maria Pia Sormani, Eugenio Mercuri, Francesca Magri, Serena Bonfiglio, Michele Sacchini, Valentina Lanzillotta, Sara Napolitano, Lavinia Fanelli, Flaviana Bianco, Emanuela Viggiano
المساهمون: Pane, M, Mazzone, E, Sormani, Mp, Messina, S, Vita, Gl, Fanelli, L, Berardinelli, A, Torrente, Y, D'Amico, A, Lanzillotta, V, Viggiano, E, D'Ambrosio, P, Cavallaro, F, Frosini, S, Bello, L, Bonfiglio, S, Scalise, R, De Sanctis, R, Rolle, E, Bianco, F, Van der Haawue, M, Magri, F, Palermo, C, Rossi, F, Donati, Ma, Alfonsi, C, Sacchini, M, Arnoldi, Mt, Baranello, G, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Previtali, Sc, Napolitano, S, Bruno, C, Politano, Luisa, Comi, Gp, Bertini, E, Morandi, L, Gualandi, F, Ferlini, A, Goemans, N, Mercuri, E.
المصدر: Università Cattolica del Sacro Cuore-IRIS
PLoS ONE, Vol 9, Iss 1, p e83400 (2014)
PLoS ONEمصطلحات موضوعية: Male, Time Factors, Duchenne muscular dystrophy, Muscular Dystrophies, Cohort Studies, Dystrophin, inglese, Muscular dystrophy, Child, Multidisciplinary, Statistics, Neuromuscular Diseases, Neurology, Child, Preschool, Cohort, Observational Studies, Medicine, Cohort study, Research Article, Test Evaluation, medicine.medical_specialty, Adolescent, Clinical Research Design, Science, Nonsense mutation, changes, Biostatistics, walking, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Genetic Mutation, Diagnostic Medicine, Internal medicine, medicine, Genetics, Humans, Biology, Clinical Genetics, business.industry, Point mutation, Human Genetics, X-Linked, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, Mutation, Physical therapy, Observational study, business, Mathematics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97d75fca133c4bcf128a8130f246f40Test
http://hdl.handle.net/11392/1994412Test -
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المؤلفون: Anna-Karin Kroksmark, G. Campion, Judith C. van Deutekom, Marleen Van den Hauwe, R. Wilson, Mar Tulinius, Nathalie Goemans, Afrodite Lourbakos, Sjef J. de Kimpe, Gunnar Buyse
المصدر: PLoS ONE, Vol 11, Iss 9, p e0161955 (2016)
PLoS ONEمصطلحات موضوعية: Male, 0301 basic medicine, Heredity, Muscle Physiology, Muscle Functions, Physiology, Genetic Linkage, Epidemiology, Biopsy, Duchenne muscular dystrophy, Oligonucleotides, Walking, Duchenne Muscular Dystrophy, Biochemistry, Muscular Dystrophies, Dystrophin, 0302 clinical medicine, Medicine and Health Sciences, Biomechanics, Muscular dystrophy, Child, Routes of Administration, Multidisciplinary, Treatment Outcome, Neurology, X-Linked Traits, Sex Linkage, Child, Preschool, Anesthesia, Cohort, Medicine, Research Article, medicine.medical_specialty, Adolescent, Science, Surgical and Invasive Medical Procedures, 03 medical and health sciences, Pharmacokinetics, Genetics, medicine, Humans, Dosing, Muscle, Skeletal, Adverse effect, Drisapersen, Pharmacology, Clinical Genetics, Biological Locomotion, business.industry, Biology and Life Sciences, Proteins, medicine.disease, Surgery, Muscular Dystrophy, Duchenne, Clinical trial, Cytoskeletal Proteins, Natural History of Disease, 030104 developmental biology, Subcutaneous Injections, Exercise Test, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a66d854fa2a6a9623e3f001f154722dTest
https://doi.org/10.1371/journal.pone.0161955Test -
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المؤلفون: Gert-Jan B. van Ommen, Niki Heuvelmans, G. Campion, Jan J.G.M. Verschuuren, J M Ad Sitsen, Jessica A. Sipkens, Brigitte E Burm, Gunnar Buyse, Nathalie Goemans, Judith C.T. van Deutekom, Sjef J. de Kimpe, Peter F. Ekhart, Gerard Johannes Platenburg, Anneke A.M. Janson, Niklas Darin, Annemieke Aartsma-Rus, Johanna T van den Akker, Mar Tulinius, Tjadine Holling
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Injections, Subcutaneous, Oligonucleotides, Eteplirsen, Dystrophin, Pharmacokinetics, Internal medicine, medicine, Humans, Muscle Strength, Muscular dystrophy, Child, Muscle, Skeletal, Creatine Kinase, Drisapersen, biology, Dose-Response Relationship, Drug, business.industry, General Medicine, Exons, medicine.disease, Muscular Dystrophy, Duchenne, Alternative Splicing, Endocrinology, Child, Preschool, Mutation, biology.protein, Systemic administration, Exercise Test, RNA, Creatine kinase, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d69202b8fcb46ab6f4acdfbcc73c6cfTest
https://hdl.handle.net/1887/111130Test -
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المؤلفون: Edna H. Venneker, Jan J.G.M. Verschuuren, Anneke A.M. Janson, Ieke B. Ginjaar, Gert-Jan B. van Ommen, Nathalie Goemans, Annemieke Aartsma-Rus, Johan T. den Dunnen, Klaas Koop, Mattie Bremmer-Bout, Anneke J. van der Kooi, Peter F. Ekhart, Judith C.T. van Deutekom, Wendy S. Frankhuizen, Sjef J. de Kimpe, Gerard Johannes Platenburg
المساهمون: ANS - Amsterdam Neuroscience, Neurology
المصدر: New England journal of medicine, 357(26), 2677-2686. Massachussetts Medical Society
مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Transcription, Genetic, RNA Splicing, Oligonucleotides, Eteplirsen, Injections, Intramuscular, Dystrophin, Exon, Tibialis anterior muscle, Internal medicine, medicine, Humans, RNA, Messenger, Muscular dystrophy, Child, Drisapersen, Sequence Deletion, biology, business.industry, General Medicine, Exons, Oligonucleotides, Antisense, medicine.disease, Molecular biology, Exon skipping, Muscular Dystrophy, Duchenne, Endocrinology, Drug Design, RNA splicing, biology.protein, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d50c5a2f7bc34966d6030680869fd5Test
https://pure.amc.nl/en/publications/localTest-dystrophin -restoration-with-antisense-oligonucleotide-pro051(3d145de3-17de-4987-8fad-3e5f1ab44c97).html