المؤلفون: Linda Lowes, Navid Khan, Lindsay N. Alfano, Helen Eliopoulos, Nathalie Goemans, Eugenio Mercuri, Craig M. McDonald, Jerry R. Mendell, Nanshi Sha

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: Research Report, Duchenne muscular dystrophy, Male, medicine.medical_specialty, BOYS, Neuromuscular disease, Adolescent, Clinical Neurology, Walk Test, Walking, Eteplirsen, dystrophin, Morpholinos, Internal medicine, loss of ambulation, END-POINTS, medicine, Humans, In patient, eteplirsen, Child, POPULATION, Retrospective Studies, Science & Technology, 6-minute walk test, biology, business.industry, Neurosciences, Exons, medicine.disease, Duchenne, Exon skipping, PREVALENCE, Natural history, Muscular Dystrophy, Duchenne, Neurology, Case-Control Studies, Ambulatory, Mutation, biology.protein, Neurology (clinical), Neurosciences & Neurology, MUSCLE DISEASE, Dystrophin, business, Life Sciences & Biomedicine, EXONDYS 51

وصف الملف: Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a2b68443493fe625b361d1d42ed491Test
http://europepmc.org/articles/PMC8385516Test

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

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

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: 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

المؤلفون: S. Dorricott, Sjef J. de Kimpe, J.C.T. van Deutekom, Alessandra Ferlini, R. Wilson, Mar Tulinius, Annarita Armaroli, Afrodite Lourbakos, Erik H. Niks, G. Campion, Nathalie Goemans, A. Morgan

المصدر: Neuromuscular Disorders. 23:847

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, education.field_of_study, medicine.medical_specialty, biology, Duchenne muscular dystrophy, Population, Skeletal muscle, medicine.disease, Molecular biology, Exon skipping, Exon, Endocrinology, medicine.anatomical_structure, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, biology.protein, medicine, Neurology (clinical), Muscular dystrophy, Dystrophin, education, Genetics (clinical), Drisapersen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5f553433245233ec76deff1fccf241cfTest
https://doi.org/10.1016/j.nmd.2013.06.718Test