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1دورية أكاديمية
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, Vol 13, Iss 2, Pp 1360-1372 (2022)
مصطلحات موضوعية: Duchenne muscular dystrophy, Isoform, Motor function, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Vandana Ayyar Gupta, Jacqueline M Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y Manzur, Francesco Muntoni, iMDEX Consortium and the U.K. NorthStar Clinical Network
المصدر: PLoS ONE, Vol 18, Iss 4, p e0283669 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
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3دورية أكاديمية
المؤلفون: Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni, Giovanni Baranello, the NorthStar Network
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Duchenne muscular dystrophy, Growth, Isoforms, Glucocorticoids, Prednisolone, Deflazacort, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: spinal muscular atrophy, duchenne and becker muscular dystrophy, translational research, trial design, inclusion criteria, matching criteria, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.759994/fullTest; https://doaj.org/toc/1664-8021Test
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5دورية أكاديمية
المؤلفون: Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri, on behalf on the International DMD Group and the iMDEX Consortium
المصدر: PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
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6
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 -
7دورية أكاديمية
المؤلفون: Federica Trucco, Deborah Ridout, Joana Domingos, Kate Maresh, Mary Chesshyre, Pinki Munot, Anna Sarkozy, Stephanie Robb, Rosaline Quinlivan, Mollie Riley, Colin Wallis, Elaine Chan, Francois Abel, Silvana De Lucia, Jean‐Yves Hogrel, Erik H. Niks, Imelda de Groot, Laurent Servais, Volker Straub, Valeria Ricotti, Adnan Manzur, Francesco Muntoni
المساهمون: Trucco, Federica, Ridout, Deborah, Domingos, Joana, Maresh, Kate, Chesshyre, Mary, Munot, Pinki, Sarkozy, Anna, Robb, Stephanie, Quinlivan, Rosaline, Riley, Mollie, Wallis, Colin, Chan, Elaine, Abel, Francoi, De Lucia, Silvana, Hogrel, Jean‐yve, Niks, Erik H., de Groot, Imelda, Servais, Laurent, Straub, Volker, Ricotti, Valeria, Manzur, Adnan, Muntoni, Francesco
مصطلحات موضوعية: Duchenne muscular dystrophy, exon skipping, forced vital capacity, genotype, respiratory function
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34606104; info:eu-repo/semantics/altIdentifier/wos/WOS:000711484700001; volume:65; firstpage:67; lastpage:74; numberofpages:8; journal:MUSCLE & NERVE; https://hdl.handle.net/11567/1155339Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118321421
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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 -
9
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 -
10
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