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: L. De Waele, Gunnar M. Buyse, Karin R. Sipido, Nathalie Goemans, Catherine M. Verfaillie, Kaat Desloovere, Guillaume Gilbert, Maurilio Sampaolesi, Domiziana Costamagna, Robin Duelen

مصطلحات موضوعية: musculoskeletal diseases, NADPH oxidase, biology, Duchenne muscular dystrophy, NOX4, Muscle disorder, Mitochondrion, medicine.disease, Cell biology, Ataluren, chemistry.chemical_compound, chemistry, medicine, biology.protein, Idebenone, Dystrophin, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::afd0f29c5d13dbbaccbbc615b74b7216Test
https://doi.org/10.1101/2021.09.13.460090Test

المؤلفون: Shin'ichi Takeda, Annemieke Aartsma-Rus, Eugenio Mercuri, Nathalie Goemans, Dongsheng Duan

المصدر: Nature Reviews Disease Primers, 7(1). NATURE RESEARCH

مصطلحات موضوعية: musculoskeletal diseases, biology, business.industry, Duchenne muscular dystrophy, Cardiomyopathy, General Medicine, Disease, Assisted ventilation, Bioinformatics, medicine.disease, Dystrophin, Muscular Dystrophy, Duchenne, Premature death, Disease Models, Animal, biology.protein, medicine, Animals, Humans, Muscular dystrophy, business, Genetic diagnosis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a1b1b66d7336a356191d47fb66b88b8Test
https://pubmed.ncbi.nlm.nih.gov/33602943Test

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: 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

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

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

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