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1
المؤلفون: Sonia Messina, Claudio Bruno, E. Mazzone, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Gianluca Vita, Francesco Muntoni, Marika Pane, Tiziana Mongini, Giovanni Baranello, Erik H. Niks, Mary Chesshyre, Francesca Magri, Volker Straub, Enrico Bertini, Elena Pegoraro, Luca Bello, Alice Donati, Silvana De Lucia, Stefano C. Previtali, Valeria Ricotti, Adele D'Amico, Jean-Yves Hogrel, Nathalie Goemans, Roberta Battini, Giacomo P. Comi, Laurent Servais, Giorgia Coratti, Federica Ricci, Imelda J. M. de Groot, Luisa Politano, Angela Berardinelli
المصدر: PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)مصطلحات موضوعية: Male, Heredity, Genetic Linkage, Epidemiology, Physiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Exon, 0302 clinical medicine, Medical Conditions, Medicine and Health Sciences, 030212 general & internal medicine, Muscular Dystrophy, Longitudinal Studies, Child, Baseline values, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Organic Compounds, Men, Exons, Multidisciplinary Sciences, Chemistry, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Medicine, Science & Technology - Other Topics, Steroids, exon skipping, Research Article, medicine.medical_specialty, Science, Natural history of disease, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Genetics, Humans, Clinical Genetics, Science & Technology, business.industry, Biological Locomotion, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Human Genetics, medicine.disease, Duchenne, Human genetics, Exon skipping, Follow-Up Studies, Muscular Dystrophy, Duchenne, Mutation, Clinical trial, Natural History of Disease, Medical Risk Factors, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf; Electronic-eCollection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7Test
http://hdl.handle.net/1887/3249481Test -
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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: Victor, Ronald G, Sweeney, H. Lee, Finkel, Richard, Mcdonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M. Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Hoda, Abdel-Hamid, Susan, Apkon, Richard, Barohn, Elena, Belousova, Enrico, Bertini, John, Brandsema, Claudio, Bruno, William, Burnette, Russell, Butterfield, Barry, Byrne, Craig, Campbell, Jose, Carlo, Jong-Hee, Chae, Saleel, Chandratre, Giacomo, Comi, Anne, Connolly, Imelda De Groot, Nicolas, Deconinck, Joseph, Dooley, Alberto, Dubrovsky, Julien, Durigneux, Erika, Finanger, Richard, Finkel, L Matthew Frank, Nathalie, Goemans, Amy, Harper, Ayako, Hattori, Ozlem, Herguner, Susan, Iannaccone, Joanne, Janas, Yuh-Jyh, Jong, Janberd, Kirschner, Hirofumi, Komaki, Nancy, Kuntz, Wang-Tso, Lee, Edward, Leung, Jean, Mah, Katherine, Mathews, Craig, Mcdonald, Eugenio, Mercuri, Hugh, Mcmillan, Wolfgang, Mueller-Felber, Adolfo Lopez de Munain, Akinori, Nakamura, Erik, Niks, Katsuhisa, Ogata, Samuel, Pascual, Pegoraro, Elena, Yann, Pereon, Ben, Renfroe, Ratna Bhavaraju Sanka, Jens, Schallner, Ulrike, Schara, Kathryn, Selby, Isabel Illa Sendra, Laurent, Servais, Edward, Smith, Susan, Sparks, Haluk, Topaloglu, Ron, Victor, Juan Jose Vilchez, Matthew, Wicklund, Ekkehard, Wilichoswki, Brenda, Wong
المساهمون: L, Servais., Çocuk Sağlığı ve Hastalıkları, Schara, Ulrike (Beitragende*r)
المصدر: Neurology, vol 89, iss 17
Neurology
Neurology, 89(17), 1811-1820
Neurology, 89 (17مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, Vasodilator Agents, International Cooperation, Left, Medizin, Placebo-controlled study, Walking, Ventricular Function, Left, law.invention, Pulmonary function testing, Tadalafil, Efficacy, 0302 clinical medicine, Randomized controlled trial, law, Heart Rate, Ventricular Function, Muscular Dystrophy, Child, Pediatric, Sciences bio-médicales et agricoles, 3. Good health, Respiratory Function Tests, Treatment Outcome, Area Under Curve, 6.1 Pharmaceuticals, Ambulatory, Cognitive Sciences, Walking -- physiology, Drug, medicine.drug, musculoskeletal diseases, Duchenne/ Becker Muscular Dystrophy, medicine.medical_specialty, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Trials and Supportive Activities, Clinical Sciences, Vasodilator Agents -- therapeutic use, Tadalafil -- therapeutic use, Placebo, Article, Dose-Response Relationship, 03 medical and health sciences, Rare Diseases, Double-Blind Method, Clinical Research, Internal medicine, medicine, Heart Rate -- physiology, Humans, Glucocorticoids, Neurology & Neurosurgery, Dose-Response Relationship, Drug, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, medicine.disease, Duchenne, Glucocorticoids -- therapeutic use, Tadalafil DMD Study Group, Brain Disorders, Muscular Dystrophy, Duchenne, 030104 developmental biology, Musculoskeletal, Muscular Dystrophy, Duchenne -- drug therapy -- psychology, Quality of Life, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
وصف الملف: application/pdf; Print-Electronic; text/plain; 2 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0e6503a882dfb553f43c58e0475c30Test
https://ora.ox.ac.uk/objects/uuid:07acefc6-f3c1-43d6-aaff-dd314f53221cTest -
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المؤلفون: Simon Henri Schless, Nathalie Goemans, Kaat Desloovere, Marije Goudriaan, Guy Molenaers, Angela Nieuwenhuys
المصدر: PLoS ONE, Vol 13, Iss 1, p e0191097 (2018)
PLoS ONEمصطلحات موضوعية: Male, 030506 rehabilitation, Physiology, Knees, lcsh:Medicine, Walking, Knee Joints, Isometric exercise, 0302 clinical medicine, Gait (human), Medicine and Health Sciences, Child, lcsh:Science, Musculoskeletal System, Gait, Muscle Weakness, Multidisciplinary, Physics, Lower limb muscle weakness, Classical Mechanics, Physical Sciences, Legs, Female, Anatomy, medicine.symptom, Gait Analysis, 0305 other medical science, Research Article, Weakness, medicine.medical_specialty, Pelvis, Cerebral palsy, Motion, 03 medical and health sciences, Physical medicine and rehabilitation, medicine, Humans, Rank correlation, Hip, Biological Locomotion, business.industry, Cerebral Palsy, Limbs (Anatomy), lcsh:R, Ankles, Biology and Life Sciences, Reproducibility of Results, Muscle weakness, medicine.disease, body regions, Joints (Anatomy), Torque, Gait analysis, lcsh:Q, business, human activities, 030217 neurology & neurosurgery
وصف الملف: Electronic-eCollection; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226ed4734cb408c7c693afdd0e979d7fTest
https://lirias.kuleuven.be/handle/123456789/619692Test -
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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, G. Campion, Anna-Karin Kroksmark, Marleen Van den Hauwe, R. Wilson, Mar Tulinius
مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, medicine.medical_specialty, Adolescent, Exercise test, Clinical Neurology, Oligonucleotides, Context (language use), Walking, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Adrenal Cortex Hormones, Internal medicine, Outcome Assessment, Health Care, medicine, Humans, Genetics(clinical), Antisense oligonucleotide, Pediatrics, Perinatology, and Child Health, Child, Genetics (clinical), Drisapersen, business.industry, Disease progression, medicine.disease, Dystrophin synthesis, Current analysis, Natural history, Muscular Dystrophy, Duchenne, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Ambulatory, Cohort, Physical therapy, Disease Progression, Exercise Test, Neurology (clinical), Comparative study, Drug therapy, business, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6faf416b7e0c5a23133750601462ac7Test
https://lirias.kuleuven.be/handle/123456789/602700Test -
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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: 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