المؤلفون: E. Mercuri, A.M. Seferian, L. Servais, N. Deconinck, H. Stevenson, X. Ni, W. Zhang, L. East, S. Yonren, F. Muntoni, Nicolas Deconinck, Rudy Van Coster, Arnaud Vanlander, Andreea Seferian, Silvana De Lucia, Teresa Gidaro, Laura Vanden Brande, Laurent Servais, Janbernd Kirschner, Sabine Borell, Eugenio Mercuri, Claudia Brogna, Marika Pane, Lavinia Fanelli, Giulia Norcia, Francesco Muntoni, Chiara Brusa, Mary Chesshyre, Kate Maresh, Jaqueline Pitchforth, Lucia Schottlaender, Mariacristina Scoto, Arpana Silwal, Fedrica Trucco

المصدر: Neuromuscular Disorders. 33:476-483

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::010c398abc3705355c31db1d1dedc9efTest
https://doi.org/10.1016/j.nmd.2023.03.008Test

المؤلفون: Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung‐Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni

المصدر: Journal of Cachexia, Sarcopenia and Muscle. 13:1360-1372

مصطلحات موضوعية: Dystrophin, Muscular Dystrophy, Duchenne, Mice, Physiology (medical), Mice, Inbred mdx, Animals, Humans, Protein Isoforms, Orthopedics and Sports Medicine, Muscle, Skeletal

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c3fe044fd5338952e7972de3a3375f3Test
https://doi.org/10.1002/jcsm.12914Test

المؤلفون: Georgia Stimpson, Mary Chesshyre, Giovanni Baranello, Francesco Muntoni

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: matching criteria, inclusion criteria, translational research, trial design, Genetics, Molecular Medicine, QH426-470, Genetics (clinical), duchenne and becker muscular dystrophy, spinal muscular atrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199440466479084dcd056bb8d9d15c66Test
https://www.frontiersin.org/articles/10.3389/fgene.2021.759994/fullTest

المؤلفون: Yasumasa Hashimoto, Marion Main, Yoshitsugu Aoki, Deborah Ridout, Mariacristina Scoto, Francesco Muntoni, K. Maresh, Silvia Torelli, Giovanni Baranello, Valeria Ricotti, Adnan Y. Manzur, Yoko Ookubo, Lianne Abbott, Vandana Ayyar Gupta, Mary Chesshyre

مصطلحات موضوعية: Gene isoform, medicine.medical_specialty, biology, business.industry, Duchenne muscular dystrophy, Central nervous system, Skeletal muscle, medicine.disease, Phenotype, Grip strength, Endocrinology, medicine.anatomical_structure, Internal medicine, biology.protein, Medicine, Muscular dystrophy, business, Dystrophin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7d68df556d4c4d29335f762e13be0a33Test
https://doi.org/10.1101/2021.07.27.21261120Test

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: Amy Wolfe, Mariacristina Scoto, Mary Chesshyre, Lianne Abbott, Vandana Ayyar Guptar, Stephanie Wadsworth, Adnan Y. Manzur, Victoria Selby, Giovanni Baranello, Francesco Muntoni, Marion Main

المصدر: Digital poster presentations.

مصطلحات موضوعية: musculoskeletal diseases, education.field_of_study, medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, Population, Functional skills, Retrospective cohort study, medicine.disease, Ambulatory, Physical therapy, Medicine, education, business, Hypermobility (travel)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7a6aac726e751a9670ea7b2963a816efTest
https://doi.org/10.1136/archdischild-2020-gosh.74Test