المؤلفون: Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish‐Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, The Jain COS Consortium, Kate Bushby, Andrew M. Blamire, Volker Straub, Pierre G. Carlier, Jordi Diaz‐Manera

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 6, Pp 2888-2897 (2022)

مصطلحات موضوعية: Magnetic resonance imaging, Water T2, Limb girdle muscular dystrophy, Limb girdle muscular dystrophy R2, Limb girdle muscular dystrophy 2B, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test

الوصول الحر: https://doaj.org/article/a01a423d88254013ace5119cb35d6db2Test

المؤلفون: Harmen Reyngoudt, Fiona E. Smith, Ericky Caldas de Almeida Araújo, Ian Wilson, Roberto Fernández‐Torrón, Meredith K. James, Ursula R. Moore, Jordi Díaz‐Manera, Benjamin Marty, Noura Azzabou, Heather Gordish, Laura Rufibach, Tim Hodgson, Dorothy Wallace, Louise Ward, Jean‐Marc Boisserie, Julien Le Louër, Heather Hilsden, Helen Sutherland, Aurélie Canal, Jean‐Yves Hogrel, Marni Jacobs, Tanya Stojkovic, Kate Bushby, Anna Mayhew, Jain Clinical Outcome Study for Dysferlinopathy consortium, Volker Straub, Pierre G. Carlier, Andrew M. Blamire

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 3, Pp 1850-1863 (2022)

مصطلحات موضوعية: Dysferlinopathy, Quantitative MRI, 31P MRS, Longitudinal, Outcome measures, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test

الوصول الحر: https://doaj.org/article/db937d5c7a7e45dcb101be7758743f29Test

المؤلفون: Ursula Moore, Esther Fernández-Simón, Marianela Schiava, Dan Cox, Heather Gordish-Dressman, Meredith K. James, Anna Mayhew, Ian Wilson, Michela Guglieri, Laura Rufibach, Andrew Blamire, Pierre G. Carlier, Madoka Mori-Yoshimura, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Jordi Diaz-Manera, Volker Straub

المصدر: Neuromuscular Disorders. 33:199-207

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3a68cf7db858a35b3c33670d73887d51Test
https://doi.org/10.1016/j.nmd.2023.01.001Test

المؤلفون: Ursula Moore, Marni Jacobs, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: dysferlinopathy, Magnetic Resonace Imaging (MRI), Miyoshi myopathy, LGMDR2, limb girdle muscle dystrophy, exercise, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2020.613446/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/945d00c7ea94451cb594a35eeef06617Test

المؤلفون: Rebecca A. Crow, Kimberly A. Hart, Michael P. McDermott, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy M. King, Michele Eagle, Mary W. Brown, Deborah Hirtz, Hanns Lochmuller, Volker Straub, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Anne-Marie Childs, Adnan Y. Manzur, Lucia Morandi, Russell J. Butterfield, Iain Horrocks, Helen Roper, Kevin M. Flanigan, Nancy L. Kuntz, Jean K. Mah, Leslie Morrison, Basil T. Darras, Maja von der Hagen, Ulrike Schara, Ekkehard Wilichowski, Tiziana Mongini, Craig M. McDonald, Giuseppe Vita, Richard J. Barohn, Richard S. Finkel, Matthew Wicklund, Hugh J. McMillan, Imelda Hughes, Elena Pegoraro, W. Bryan Burnette, James F. Howard, Mathula Thangarajh, Craig Campbell, Robert C. Griggs, Kate Bushby, Michela Guglieri

المصدر: Trials, Vol 19, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Clinical trial, Academic-led clinical trial, Clinical trial regulations, Duchenne muscular dystrophy, Rare disease, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13063-018-2645-0Test; https://doaj.org/toc/1745-6215Test

الوصول الحر: https://doaj.org/article/59fc2ba5f36543fab1efe37a189c7b3fTest

المؤلفون: Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)

مصطلحات موضوعية: Myopathy, Limb girdle muscular dystrophy, Exome, Titinopathy, Collagen VI related dystrophy, Mosaicism, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0699-9Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/756157a86465454187677c275a3b7cafTest

المؤلفون: Natalie F, Reash, Meredith K, James, Lindsay N, Alfano, Anna G, Mayhew, Marni, Jacobs, Megan A, Iammarino, Scott, Holsten, Chikako, Sakamoto, Takayuki, Tateishi, Hiroyuki, Yajima, Tina, Duong, Brittney, de Wolf, Richard, Gee, Diana X, Bharucha-Goebel, Elena, Bravver, Madoka, Mori-Yoshimura, Kate, Bushby, Laura E, Rufibach, Volker, Straub, Linda P, Lowes

المصدر: Muscle & Nerve. 66:159-166

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Muscular Dystrophies, Limb-Girdle, Physiology, Physiology (medical), Humans, Reproducibility of Results, Muscle Strength, Muscle Strength Dynamometer, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8bce32faed7890afe0a747f6670d31dTest
https://doi.org/10.1002/mus.27570Test

المؤلفون: Rabi Tawil, Elaine McColl, Henriette VanRuiten, Anna Mayhew, Marianela Schiava, Rachel Amos, Stephanie Gregory, Tracey Willis, Robert C. Griggs, Michael P. McDermott, Michela Guglieri, Kate Bushby, W. Martens

المصدر: Neurology

مصطلحات موضوعية: Percentile, education.field_of_study, Pediatrics, medicine.medical_specialty, Randomization, business.industry, Duchenne muscular dystrophy, Population, medicine.disease, Exon skipping, Clinical trial, Speech delay, Medicine, Neurology (clinical), medicine.symptom, education, business, Glucocorticoid, Research Article, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::321a6fdc725debba639a293f3c1c0de6Test
https://doi.org/10.1212/wnl.0000000000013122Test

المؤلفون: Danielle Ramsey, Mariacristina Scoto, Anna Mayhew, Marion Main, Elena S Mazzone, Jacqueline Montes, Roberto de Sanctis, Sally Dunaway Young, Rachel Salazar, Allan M Glanzman, Amy Pasternak, Janet Quigley, Elizabeth Mirek, Tina Duong, Richard Gee, Matthew Civitello, Gihan Tennekoon, Marika Pane, Maria Carmela Pera, Kate Bushby, John Day, Basil T Darras, Darryl De Vivo, Richard Finkel, Eugenio Mercuri, Francesco Muntoni

المصدر: PLoS ONE, Vol 12, Iss 2, p e0172346 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5319655?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/805f94649a6e43f7a62082820b419d03Test

المؤلفون: Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose

المصدر: Paediatrics Publications

مصطلحات موضوعية: Duchenne muscular dystrophy, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Prednisolone, Population, Nonsense mutation, Placebo, chemistry.chemical_compound, Pregnenediones, Prednisone, Internal medicine, medicine, Humans, education, deflazacort, Retrospective Studies, education.field_of_study, business.industry, Health Policy, prednisolone, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Deflazacort, meta-analysis, chemistry, Codon, Nonsense, prednisone, business, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7Test
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdfTest