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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 -
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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: 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: 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 -
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المؤلفون: Claudio Bruno, Tiziana Mongini, Silvia Frosini, Sonia Messina, Enrica Rolle, Stefano C. Previtali, Francesca Gualandi, Roberto De Sanctis, Marika Pane, Gian Luca Vita, Filippo Cavallaro, Adele D'Amico, Paola D'Ambrosio, Angela Berardinelli, Roberta Battini, Luca Bello, Giovanni Baranello, Lucia Morandi, Giacomo P. Comi, Luisa Politano, Maria Teresa Arnoldi, Enrico Bertini, Elena S. Mazzone, Francesca Rossi, Concetta Palermo, Nathalie Goemans, Marlene Van der Haawue, Antonella Pini, Maria Alice Donati, Alessandra Ferlini, Yvan Torrente, Elena Pegoraro, Chiara Alfonsi, Roberta Scalise, Maria Pia Sormani, Eugenio Mercuri, Francesca Magri, Serena Bonfiglio, Michele Sacchini, Valentina Lanzillotta, Sara Napolitano, Lavinia Fanelli, Flaviana Bianco, Emanuela Viggiano
المساهمون: Pane, M, Mazzone, E, Sormani, Mp, Messina, S, Vita, Gl, Fanelli, L, Berardinelli, A, Torrente, Y, D'Amico, A, Lanzillotta, V, Viggiano, E, D'Ambrosio, P, Cavallaro, F, Frosini, S, Bello, L, Bonfiglio, S, Scalise, R, De Sanctis, R, Rolle, E, Bianco, F, Van der Haawue, M, Magri, F, Palermo, C, Rossi, F, Donati, Ma, Alfonsi, C, Sacchini, M, Arnoldi, Mt, Baranello, G, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Previtali, Sc, Napolitano, S, Bruno, C, Politano, Luisa, Comi, Gp, Bertini, E, Morandi, L, Gualandi, F, Ferlini, A, Goemans, N, Mercuri, E.
المصدر: Università Cattolica del Sacro Cuore-IRIS
PLoS ONE, Vol 9, Iss 1, p e83400 (2014)
PLoS ONEمصطلحات موضوعية: Male, Time Factors, Duchenne muscular dystrophy, Muscular Dystrophies, Cohort Studies, Dystrophin, inglese, Muscular dystrophy, Child, Multidisciplinary, Statistics, Neuromuscular Diseases, Neurology, Child, Preschool, Cohort, Observational Studies, Medicine, Cohort study, Research Article, Test Evaluation, medicine.medical_specialty, Adolescent, Clinical Research Design, Science, Nonsense mutation, changes, Biostatistics, walking, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Genetic Mutation, Diagnostic Medicine, Internal medicine, medicine, Genetics, Humans, Biology, Clinical Genetics, business.industry, Point mutation, Human Genetics, X-Linked, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, Mutation, Physical therapy, Observational study, business, Mathematics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97d75fca133c4bcf128a8130f246f40Test
http://hdl.handle.net/11392/1994412Test -
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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