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المؤلفون: Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
المصدر: Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
Disease Models & Mechanisms
Wood, C L, Suchaki, K J, van 't Hof, R, Cawthorn, W P, Dillon, S, Straub, V, Wong, S C, Ahmed, S F & Farquharson, C 2019, ' A comparison of the bone and growth phenotype of mdx, mdx:cmah-/-and mdx:utrn+/-murine models with the C57BL10 wildtype mouse ', Disease Models and Mechanisms . https://doi.org/10.1242/dmm.040659Testمصطلحات موضوعية: 0301 basic medicine, Utrophin, Duchenne muscular dystrophy, animal diseases, Medicine (miscellaneous), Adipose tissue, lcsh:Medicine, micro-ct, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Bone Marrow, growth plate, Insulin-Like Growth Factor I, Muscular dystrophy, Adiposity, Hand Strength, Chemistry, skeletal development, musculoskeletal system, Phenotype, Biomechanical Phenomena, Vascular endothelial growth factor A, medicine.anatomical_structure, Cancellous Bone, tissues, Research Article, lcsh:RB1-214, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, growth, Neuroscience (miscellaneous), Bone and Bones, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Internal medicine, Cortical Bone, medicine, lcsh:Pathology, Animals, RNA, Messenger, Muscle, Skeletal, marrow adiposity, duchenne muscular dystrophy, Insulin-like growth factor 1 receptor, Inflammation, Bone Development, Tibia, lcsh:R, X-Ray Microtomography, medicine.disease, Mice, Inbred C57BL, Muscular Dystrophy, Duchenne, Disease Models, Animal, 030104 developmental biology, Endocrinology, Gene Expression Regulation, Mice, Inbred mdx, Cortical bone, Bone marrow, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ebb519750f08781fdc4328faa84187fTest
http://dmm.biologists.org/content/13/2/dmm040659Test -
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المؤلفون: Claire L Wood, Tim Cheetham, Michelle Eagle, D J Rawlings, Michela Guglieri, Catherine J. Owen, Kate Bushby, Volker Straub, Aura Cecilia Jimenez Moreno, Anna Mayhew, Anna Sarkozy, Ramesh C. Srinivasan
المصدر: Muscle & Nerve. 54:79-85
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Physiology, Duchenne muscular dystrophy, medicine.medical_treatment, Osteoporosis, Urology, 030209 endocrinology & metabolism, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), medicine, Bone pain, Bone mineral, business.industry, Bisphosphonate, medicine.disease, Surgery, Tolerability, Cohort, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Glucocorticoid, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f134f7e87091e74ee19b08c7a34788feTest
https://doi.org/10.1002/mus.24991Test -
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المؤلفون: Rita Barresi, Tuomo Polvikoski, Claire L Wood, Tracey Willis, Hanns Lochmüller, Judith N Hudson, Volker Straub, K. Bushby
المصدر: Clinical Genetics. 90:166-170
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Sarcolemma, business.industry, Skeletal muscle, Anatomy, medicine.disease, Sarcomere, FHL1, Muscle hypertrophy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Genetics, medicine, Muscular dystrophy, medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery, Genetics (clinical), Muscle contracture
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c419d458046d74a7eaad6952a93f4559Test
https://doi.org/10.1111/cge.12695Test -
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المؤلفون: Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub, Tarek A. Yousry
المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 9 (2018)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, MRI pattern, Imaging genetics, Context (language use), lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, medicine, distal myopathies, Myopathy, lcsh:Neurology. Diseases of the nervous system, Genetic testing, Original Research, next generation sequencing, medicine.diagnostic_test, business.industry, medicine.disease, 3. Good health, 030104 developmental biology, Neurology, Pattern recognition (psychology), Cohort, Distal Myopathies, imaging genetics, muscular dystrophies, Radiology, Neurology (clinical), Inclusion body myositis, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4246fc57df944a6d179b3a146436e14eTest
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المؤلفون: Jules A. A. C. Heuberger, Eugenio Mercuri, Katja Heinig, Russell Kinch, Andreas Günther, Irene Gerlach, Wakana Tang, Teodorica L. Bugawan, Omar Khwaja, Geert Jan Groeneveld, W. Birkhoff, Heidemarie Kletzl, Claire L Wood, Hanns Lochmüller, Sebastian Dziadek, Dirk Fischer, Christian Czech, Anne Marquet
المصدر: Neuromuscular disorders : NMD. 29(1)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, animal diseases, Administration, Oral, SMN1, Bioinformatics, spinal muscular atrophy, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Double-Blind Method, medicine, Humans, RNA, Messenger, Child, Genetics (clinical), business.industry, Alternative splicing, Infant, Survival of motor neuron, Spinal muscular atrophy, Motor neuron, Middle Aged, medicine.disease, SMA, Muscle atrophy, nervous system diseases, Survival of Motor Neuron 2 Protein, Alternative Splicing, 030104 developmental biology, medicine.anatomical_structure, Pyrimidines, nervous system, Neurology, Neuromuscular Agents, Child, Preschool, Pyrazines, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cd3af212d2a80d491e04b1614b29a09Test
https://pubmed.ncbi.nlm.nih.gov/30553700Test -
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المؤلفون: Claire L Wood, Tim Cheetham
المصدر: Lancet (London, England). 390(10101)
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, General Medicine, medicine.disease, Muscular Dystrophy, Duchenne, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Humans, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65d4266dbd419cfe07d9a5d79d77bafbTest
https://pubmed.ncbi.nlm.nih.gov/28728956Test -
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المؤلفون: S. Richardson, E. Kimber, H. Kim, Diana Castro, H. Johnson, A. C. Tesi Rocha, Matthias Eckenweiler, C. Manzitti, John W. Day, R. De Sanctis, M. Gormley, Mar Tulinius, Mirac Yildirim, C. M. Temucin, M. Gratacos Vinola, S. Matsumaru, F. Weber-Guzman, J. Kitsuwa-Lowe, Lavinia Fanelli, T. Sato, W. C. Virginia, J. H. Hsu, S. Nagata, A. Michoulas, Sally Dunaway, Mariacristina Scoto, R. Shell, R. Laine, D. DiBella, C. King, Jacqueline Montes, Haluk Topaloglu, Maryam Oskoui, Didem Ardicli, K. Rupprich, C. Stella, F. Dorban, Alan C Farrow-Gillespie, S. A. Choi, T. Ikai, W. C. Liang, N. Matsushima, PH Lister, Arnaud Vanlander, N. Rausch, T. T. Duong, Marika Pane, Melissa Gibbons, M. M. Homi, A. K. Kroksmark, B. Andres, Kristin J. Krosschell, S. Patnaik, L. Welsh, Eduardo F. Tizzano, M. Gallardo, Michèle Mayer, Sarada Sakamuri, W. Liew, T. Spain, M. Yang, Kayoko Saito, Edward C. Smith, L. Sanabria, Astrid Pechmann, H. Kaneko, Leslie Nelson, Basil T. Darras, C. Milleson, Janbernd Kirschner, R. Arakawa, Margot Morrison, Y. Kaburagi, P. Dinunzio, C. K.W. Joseph, M. Chadehumbe, Craig M. Zaidman, S. Nicolarsen, Hyung Ik Shin, Alberto Garaventa, James J. Dowling, J. S. Lee, K. Booker, A. Takeshita, D. McElroy, K. Carroll, D. Vens, Y. Chiba, L. Wand, C. Kelly, Luke Smith, H. Shimomura, M. Srour, J. B. Bodensteriner, B. Rippberger, A. Herbert, Eugenio Mercuri, H. Jo, J. Turner, A. Camuto, N. Parziale, J. O'Brien, N. Nelson, E. Serdaroglu, Jong-Hee Chae, V. Tahon, E. Toro Tamargo, L. Weimer, T. Voit, L. W.M. Wendy, J. Rambaud, G. Gilbert, C. Zimmerman, S. Kramer, D. McFall, Jennifer Perez, N. Berthon-Jones, Jessica Taytard, Marco Luigetti, J. Pisco Domingos, R. Van Der Looven, Genevieve D'Souza, C. Berde, E. Roland, M. de Los Angeles Tormos Munoz, J. Zigmont, S. Baily, S. Gilabert, H. Nakatsukasa, S. Trest, Bahadır Konuşkan, H. A. Ferreira Sampaio, Z. John Zhong, G. VanderVeen, V. Allen, C. Aguilar, N. Taniguchi, G. Ordonez, Elizabeth Kichula, F. Shu, M. N. Chui-San, M. Zinn, Anne M. Connolly, Ian R. Woodcock, Ayşe Karaduman, R. Haldenby, K. Hirasawa, F. Munell Casadesus, L.D.M. Peña, Vamshi K. Rao, Allan M. Glanzman, Claudia A. Chiriboga, A. Martinez Bermejo, John F. Brandsema, S. Epinosa Garcia, M. K. Schroth, T. Shibano, Richard Gee, Valeria Ricotti, Y. Ito, Y. Tanaka, S. Arpin, C. S. Yan, L. Schottlaender, Marco Piastra, M. Kauk, Francesco Muntoni, K. Sugimoto, Öznur Yilmaz, K. DeCock, Kathryn Selby, T. Yanagishita, Concetta Palermo, H. W. Chung, B. Taicher, Jiri Vajsar, K. Zilke, R. Gadeken, A. Yamauchi, Marta Bertoli, Nancy L. Kuntz, T. Tachikawa, C. Johnson, A. Mayhew, Jahannaz Dastgir, Y. J. Jong, P. C. Chou, G. Rivera, T. N. Shun, Y. H. Ju, N. Holuba La Marca, M. Toms, Matthew Civitello, Eugene Schneider, C. Lilien, S. Ito, C. Skura, Y. Yvonne, K. O'Reardon, Barry S. Russman, Janet Quigley, J. W. Said, B. Planas Pascual, R. J. Ramamurthi, Wildon Farwell, V. Selby, W. Y. Connie, M. Souris, Nicholas E. Johnson, M. Miki, N. Sponemann, Andrei Constantinescu, K. Mayne, H. H. Shih, B. Sanjanwala, Teresa Gidaro, D. Berry, Gihan Tennekoon, A. G. Le Moing, Danielle Ramsey, C. Poulin, S. Goldman, K. Watson, H. L. Teoh, N. J. Palacios, Tai-Heng Chen, A. C. Chung, Terri Carry, J. Coates, D. Zielinski, R. Vialle, F. G. Yildiz Sarikaya, Marcus Krüger, M. del Mar Garcia Romero, E. Michael, E. D. Austin, J. Janas, K. Engelstad, S. Y. Kim, M. Alavarez Molinero, Leon G. Epstein, Monique M. Ryan, Jean Flickinger, D. Benjamin, S. Wider, C. S. Davis, Jena M. Krueger, I. J.K. Janice, Darryl C. De Vivo, M. del Mar Melendez Plumed, Y. Takeshima, C. Gunbey, Serena Sivo, A. Christiaens, Q. Ollievier, Elizabeth Mirek, D. Stanford, Susan T. Iannaccone, Jonathan E. Kurz, D. Cook, C. S. Ng, A. Koka, V. Chau, M. del Pilar Tirado Requero, M. B. Gomez Garcia de la Banda, E. M. Yiu, Amy Pasternak, Rosangel Cruz, S. So, S. I. Pascual Pascual, V. G. Haliloglu, E. S. Schroers, P. Jachertz, C. Ortiz-Miller, Sandra Coppens, J. Lee, M. Popolizio, Michael Doumit, Rachel Salazar, Michelle A. Farrar, Peter G. Fuhr, M. Pedermonte, L. S. Lord-Halvorson, W. Leon, Y. S. Zeng, L. D'Argenzio, Russell J. Butterfield, C. Blomgren, Erika Finanger, S. Shea, Paola Tacchetti, N. Y. Ki, H. W. Choi, K. Oriyama, S. Wittevrongel, Catherine Siener, K. Mizuochi, M. Cowie, R. Van Coster, E. Gargaun, S. M. Scuplak, Sibylle Vogt, S. Stein, Tim Harrington, P. M. Ingelmo, J. Wootton, M. Tanyildiz, A. F. Rucian, Jonathan Marra, C. Frank Bennett, Claire L Wood, Nicolas Deconinck, Adnan Y. Manzur, Helene Verhelst, B. Purse, P. L. Léger, J. Cappell, S. Aziz-Zaman, H. Y. Wang, Claudio Bruno, S. Garcia Guixot, Robert Muni Lofra, Federica Trucco, S. M. Chun, Catherine E. Roberts, Ulrike Schara, Walter G. Bradley, K. L. De Valle, E. De Vos voor, S. Borell, A. Lim, Sophelia H. S. Chan, L. Rao, M. Shichiji, S. Rooze, T. M. Newcomb, Fouad Al-Ghamdi, Chiara Fiorillo, J. D. Endsley, L. Y. Sigurdardottir, Pallavi Anand, A. Zuffi, Julie A. Parsons, M. Kasper, A. Nishikawa, Sarah Gheuens, S. Turgeon-Desilet, T. Fujino, L. Staudt, Y. C. Wu, Jacinda B. Sampson, Paola Lanteri, Stephanie DeArmey, Partha S. Ghosh, Alexandra C. Ross, L. Adang, Laurent Servais, V. Tran, Alan Bielsky, Y. Otani, Navil F. Sethna, J. Hen, Perry B. Shieh, N. Fukuda, N. Miller, K. Eto, S. Paulose, Niklas Darin, C. Sabapathy, Robert J. Graham, Christopher Proud, Richard S. Finkel, Alexander G. Khandji, A. Della Marina, Adrian Murphy, Kathie M. Bishop, Tejaswi Kandula, Valentina Lanzillotta, Heather Szelag, Kalliopi Sofou, Y. H. Chou, Heike Koelbel, J. Eldblom, T. Lee, M. M. Martinez Moreno, Volker Straub, Laura E. Case, A. Lindstedt, G. Gili, A. Frank, H. C.C. Alvin, A. Ganfuss, Karen Herbert, Paul T. Golumbek, D. Villano, B. Wenderickx, B. C. Lim, W. S. Son
المساهمون: Schara, Ulrike (Beitragende*r), Ganfuss, Andrea (Beitragende*r), Koelbel, Heike (Beitragende*r), Rupprich, Katrin (Beitragende*r), Schroers, Ester Sarah (Beitragende*r), Sponemann, Nina (Beitragende*r), Çocuk Sağlığı ve Hastalıkları
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Movement disorders, animal diseases, Messenger, Oligonucleotides, Medizin, Spinal Muscular Atrophies of Childhood, 0302 clinical medicine, Age of Onset, Disease-Free Survival, Double-Blind Method, Female, Humans, Infant, Injections, Spinal, Motor Skills, Oligonucleotides, Antisense, RNA, Messenger, Respiration, Artificial, Survival Analysis, Survival of Motor Neuron 2 Protein, Medicine (all), Respiration, General Medicine, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Artificial, Nusinersen, medicine.symptom, medicine.medical_specialty, Spinal, Injections, 03 medical and health sciences, Atrophy, General & Internal Medicine, Settore MED/41 - ANESTESIOLOGIA, medicine, Antisense, Survival analysis, business.industry, Spinal muscular atrophy, Motor neuron, medicine.disease, nervous system diseases, 030104 developmental biology, nervous system, RNA, Infantile onset, Age of onset, business, 030217 neurology & neurosurgery
وصف الملف: text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1902aea91371408a707bf0d8e637462Test
https://www.ncbi.nlm.nih.gov/pubmed/29091570Test -
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المؤلفون: Tim Cheetham, Michela Guglieri, Kate Bushby, Claire L Wood, Volker Straub
المصدر: Archives of disease in childhood. 101(1)
مصطلحات موضوعية: musculoskeletal diseases, Delayed puberty, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Neuromuscular disease, Adolescent, Duchenne muscular dystrophy, Reproductive medicine, 030209 endocrinology & metabolism, Short stature, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Weaning, Humans, Testosterone, Insulin-Like Growth Factor I, Child, Glucocorticoids, Growth Disorders, Puberty, Delayed, business.industry, Human Growth Hormone, medicine.disease, Rheumatology, Muscular Dystrophy, Duchenne, Pediatrics, Perinatology and Child Health, Physical therapy, Etiology, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b546251bf28bfe74e3d70caf18ba02e9Test
https://pubmed.ncbi.nlm.nih.gov/26141541Test