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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 -
2Injection site reactions after long-term subcutaneous delivery of drisapersen: a retrospective study
المصدر: Eur J Pediatr
مصطلحات موضوعية: medicine.medical_specialty, Erythema, Injections, Subcutaneous, Duchenne muscular dystrophy, Oligonucleotides, Pilot Projects, Gastroenterology, Article, 03 medical and health sciences, 0302 clinical medicine, Fibrosis, 030225 pediatrics, Internal medicine, Humans, Medicine, 030212 general & internal medicine, Child, Drisapersen, Retrospective Studies, Proteinuria, business.industry, Retrospective cohort study, Oligonucleotides, Antisense, medicine.disease, Hyperpigmentation, Injection Site Reaction, Muscular Dystrophy, Duchenne, Pediatrics, Perinatology and Child Health, Hypotrichosis, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce278de3448bae8fd25116642981bffTest
https://doi.org/10.1007/s00431-018-3272-1Test -
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المؤلفون: Craig M. McDonald, Kathryn R. Wagner, Erica Koenig, Jyoti Malhotra, Navid Khan, Perry B. Shieh, Promovi Trial Clinical Investigators, Baoguang Han, Hoda Z. Abdel-Hamid, Anne M. Connolly, Nathalie Goemans, Wenfei Zhang, Emma Ciafaloni, Eugenio Mercuri, Jerry R. Mendell
المصدر: Journal of Neuromuscular Diseases
مصطلحات موضوعية: Male, Research Report, 0301 basic medicine, safety, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Vital Capacity, Clinical Neurology, Eteplirsen, Morpholinos, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, treatment efficacy, Internal medicine, medicine, Humans, Muscular dystrophy, Child, Adverse effect, Science & Technology, biology, business.industry, duchenne, Neurosciences, clinical trial, Exons, medicine.disease, Duchenne, Exon skipping, Muscular Dystrophy, Duchenne, Clinical trial, AMBULATION, 030104 developmental biology, Neurology, phase 3, Mutation, Cohort, Disease Progression, biology.protein, Neurology (clinical), Neurosciences & Neurology, business, Life Sciences & Biomedicine, 030217 neurology & neurosurgery
وصف الملف: Print
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d98e1fd113eb9e7f0a3d44bbc526d535Test
https://lirias.kuleuven.be/handle/20.500.12942/706497Test -
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المؤلفون: Stefano C. Previtali, Federica Ricci, Marika Pane, Angela Berardinelli, Valeria A. Sansone, Tiziana Mongini, Claudia Brogna, Gianluca Vita, Marina Pedemonte, Eugenio Mercuri, Luisa Politano, Francesca Magri, Giorgia Coratti, Roberta Battini, Rachele Rossi, Claudio Bruno, Sonia Messina, Giacomo P. Comi, Giovanni Baranello, Elena Pegoraro, Francesca Bovis, Nathalie Goemans, Adele D’ Amico, Alessandra Ferlini, Alice Donati, Enrico Bertini, Luca Bello, Simona Lucibello, Emilio Albamonte, Marcella Neri
مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Dystrophin, chemistry.chemical_compound, Exon, 0302 clinical medicine, Belgium, Missense mutation, Longitudinal Studies, Muscular Dystrophy, Child, Genetics (clinical), Genetics, Mutation, Oxadiazoles, Nonsense mutation, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Exons, Stop codon, Settore MED/26 - NEUROLOGIA, Neurology, Italy, Codon, Nonsense, Child, Preschool, Settore BIO/18 - GENETICA, Walk Test, Frameshift mutation, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Preschool, Codon, business.industry, Duchenne, Stop+4 model, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, 030104 developmental biology, chemistry, Nonsense, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee30573332bc60720ccd98a49ef9a6c6Test
http://hdl.handle.net/10807/182743Test -
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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: 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: Guy Molenaers, Marije Goudriaan, Catherine Huenaerts, Marleen Van den Hauwe, Cristina Simon-Martinez, Kaat Desloovere, Nathalie Goemans
المصدر: Gait & Posture. 63:159-164
مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, Weakness, Adolescent, Databases, Factual, Duchenne muscular dystrophy, Biophysics, Kinematics, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Gait (human), medicine, Humans, Orthopedics and Sports Medicine, Range of Motion, Articular, Child, Muscle, Skeletal, Gait, Gait Disorders, Neurologic, Muscle Weakness, business.industry, Rehabilitation, Muscle weakness, 030229 sport sciences, medicine.disease, Sagittal plane, Biomechanical Phenomena, Muscular Dystrophy, Duchenne, Kinetics, medicine.anatomical_structure, Child, Preschool, Multiple comparisons problem, Female, medicine.symptom, Ankle, business, human activities, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::398a55cdf4f6e692c545a445897391b9Test
https://doi.org/10.1016/j.gaitpost.2018.04.038Test -
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المؤلفون: Nathalie Goemans, Annemieke Aartsma-Rus
مصطلحات موضوعية: 0301 basic medicine, Duchenne muscular dystrophy, medicine.medical_specialty, Eteplirsen, Biochemistry, Morpholinos, Food and drug administration, 03 medical and health sciences, 0302 clinical medicine, Government Agencies, Drug Discovery, Genetics, Medicine, Humans, Molecular Biology, Drug Approval, clinical trials, business.industry, United States Food and Drug Administration, Negative opinion, United States, Clinical trial, Europe, Muscular Dystrophy, Duchenne, 030104 developmental biology, regulatory approval, 030220 oncology & carcinogenesis, Family medicine, Molecular Medicine, Patient representatives, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26193b2810925a0807833f8732e75c7bTest
https://hdl.handle.net/1887/88325Test -
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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