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: Marika Pane, Eugenio Mercuri, Marina Pedemonte, Darryl C. De Vivo, Richard S. Finkel, Sonia Messina, Maria Carmela Pera, Simona Lucibello, Amy Pasternak, Sally Dunaway Young, Nathalie Goemans, Giorgia Coratti, Jacqueline Montes, Francesco Muntoni, Enrico Bertini, Andres Nascimiento Osorio, Allan M. Glanzman, Anna Mayhew, Mariacristina Scoto, Valeria Sansone

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Hammersmith functional motor scale expanded, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Medicine, Humans, Child, Genetics (clinical), Retrospective Studies, Baseline values, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Age Factors, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, Neuromuscular disorders, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Diabetes Mellitus, Type 2, Relative risk, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe3f81c5c04817c81c6e3c85c3aaa64Test
http://hdl.handle.net/11570/3189921Test

المؤلفون: Ulrike Schara, Diana Castro, T. Gidaro, S. Lutz, Ksenija Gorni, Janbernd Kirschner, Antonella Taglia, V. Doppler, F. Knipp, Christian Rummey, Jan J.G.M. Verschuuren, Thomas Meier, Gihan Tennekoon, J.J. Vílchez Padilla, E. Falcier, Luisa Politano, Craig M. McDonald, Chiara S. M. Straathof, S. Borell, S. Coopman, Matthew J. Will, Pierre-Yves Jeannet, Nathalie Goemans, Paolo Spagnolo, Jean-Marie Cuisset, Carsten G. Bönnemann, R.C. Richardson, G. Bernert, Thomas Sejersen, N. Muelas Gómez, Maria Grazia D'Angelo, Erika Brighina, Thomas Voit, S. Gandossini, Mika Leinonen, Susan T. Iannaccone, Oscar H. Mayer, Gunnar M. Buyse, Clemens Bloetzer, M. van den Hauwe, Susan D. Apkon, Richard S. Finkel, G. Buyse, P. D’Ambrosio, Erik K Henricson, Nanette C. Joyce, M. Hovmöller

المساهمون: Van den Hauwe, M, Meier, Thoma, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Mayer, Oscar H., Buyse, Gunnar M., Bernert, G., Knipp, F., Buyse, G. M., Goemans, N., Van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J. -. M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M. G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J. J. G. M., Straathof, C. S. M., Vílchez Padilla, J. J., Muelas Gómez, N., Sejersen, T., Hovmã¶ller, M., Jeannet, P. -. Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bã¶nnemann, C., Mcdonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R. C.

المصدر: Europe PubMed Central
Neuromuscular Disorders, 27(4), 307-314

مصطلحات موضوعية: Duchenne muscular dystrophy, medicine.medical_specialty, Vital capacity, Adolescent, peak expiratory flow, Respiratory Tract Diseases, Medizin, Clinical Neurology, Pulmonary insufficiency, Placebo group, Pediatrics, Pulmonary function testing, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, forced vital capacity, Internal medicine, medicine, Humans, In patient, Genetics(clinical), Pediatrics, Perinatology, and Child Health, Longitudinal Studies, Muscular Dystrophy, Child, Genetics (clinical), Old patients, business.industry, pulmonary function, respiratory system, Perinatology and Child Health, medicine.disease, Duchenne, Cross-Sectional Studies, Muscular Dystrophy, Duchenne, Respiratory Function Tests, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Surgery, respiratory tract diseases, 030228 respiratory system, Cardiology, business, 030217 neurology & neurosurgery, circulatory and respiratory physiology

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21864040305a8729c1e8de925e0e87cTest
http://hdl.handle.net/11577/3276306Test