المؤلفون: Theodora Markati, Maryam Oskoui, Michelle A Farrar, Tina Duong, Nathalie Goemans, Laurent Servais

المصدر: The Lancet Neurology. 21:814-829

مصطلحات موضوعية: Dystrophin, Muscular Dystrophy, Duchenne, Genotype, Humans, Exons, Genetic Therapy, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::820ad3542d282c18a7729900e4d102abTest
https://doi.org/10.1016/s1474-4422Test(22)00125-9

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: Barry J. Byrne, Olga Mitelman, Sourav Santra, Jerry R. Mendell, Ashish Dugar, Anne M. Connolly, Hoda Z. Abdel-Hamid, Nathalie Goemans, Eugenio Mercuri, Peter Heydemann, Kathryn R. Wagner, Craig M. McDonald, Crystal Proud, Perry B. Shieh, James Signorovitch

المصدر: Journal of neuromuscular diseases. 9(1)

مصطلحات موضوعية: Duchenne muscular dystrophy, Male, Vital capacity, medicine.medical_specialty, Time Factors, 6-minutewalk test, Adolescent, Vital Capacity, Clinical Neurology, Walk Test, Eteplirsen, dystrophin, Pulmonary function testing, Morpholinos, DUCHENNE MUSCULAR-DYSTROPHY, 6-MINUTE WALK TEST, FEV1/FVC ratio, DRISAPERSEN, forced vital capacity, loss of ambulation, Internal medicine, END-POINTS, Outcome Assessment, Health Care, Medicine, Humans, eteplirsen, Prospective Studies, Registries, Mobility Limitation, Child, Retrospective Studies, Science & Technology, business.industry, Proportional hazards model, DISEASE PROGRESSION, Neurosciences, Repeated measures design, NATURAL-HISTORY, Muscular Dystrophy, Duchenne, Neurology, Ambulatory, Disease Progression, TRIAL, Neurosciences & Neurology, Neurology (clinical), business, Life Sciences & Biomedicine, Natural history study

وصف الملف: Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a25355a896eeef4db17d9cfa0c69a6Test
https://pubmed.ncbi.nlm.nih.gov/34420980Test

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: 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

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 & Nerve

مصطلحات 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

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: 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