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1دورية أكاديمية
المصدر: Repertorio de Medicina y Cirugía, Vol 28, Iss 2 (2019)
مصطلحات موضوعية: Distrofia muscular ligada a X, Distrofia muscular de Duchenne, Distrofia muscular de Becker, Duplicación, Distrofinopatías, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Poyatos García, Javier
المساهمون: Vílchez Padilla, Juan Jesús, Sevilla Mantecón, Teresa, Vázquez Manrique, Rafael, Departament de Medicina
مصطلحات موضوعية: terapia génica, UNESCO::CIENCIAS DE LA VIDA::Genética, UNESCO::CIENCIAS DE LA VIDA::Biología celular, UNESCO::CIENCIAS MÉDICAS ::Patología::Neuropatología, distrofia muscular de duchenne, distrofia muscular de becker
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2079::0ab5648ca589bd516e72023c8256b1bb
https://hdl.handle.net/10550/85519 -
3دورية أكاديمية
المؤلفون: Simone Rizzo Nique da Silva, Sílvia Lemos Fagundes
المصدر: Revista Brasileira em Promoção da Saúde, Vol 18, Iss 1, Pp 41-49 (2012)
مصطلحات موضوعية: Distrofias musculares, Distrofia Muscular de Duchenne, Distrofia Muscular de Becker, Fisioterapia., Medicine (General), R5-920, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Aline Andrade Freund, Rosana Herminia Scola, Raquel Cristina Arndt, Paulo José Lorenzoni, Claudia Kamoy Kay, Lineu Cesar Werneck
المصدر: Arquivos de Neuro-Psiquiatria, Vol 65, Iss 1, Pp 73-76 (2007)
مصطلحات موضوعية: distrofia muscular de Duchenne, distrofia muscular de Becker, imuno-histoquímica, PCR, deleções, exons, Duchenne muscular dystrophy, Becker muscular dystrophy, immunohistochemistry, deletions, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: López García, Ester María
المصدر: RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instnameمصطلحات موضوعية: Genetic variants, Grado en Biotecnología-Grau en Biotecnologia, Bases de datos genómicas, Distrofia muscular de Becker (BMD), GENETICA, Inteligencia artificial explicable, Becker muscular dystrophy (BMD), Variaciones genéticas, Duchenne muscular dystrophy (DMD), Explainable artificial intelligence, LENGUAJES Y SISTEMAS INFORMATICOS, Distrofia muscular de Duchenne (DMD), Genomic databases
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::338d4e8fd3b1ffa966984309b673e367
http://hdl.handle.net/10251/171055 -
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المؤلفون: Damià Vidal, Maria
المساهمون: Pitarch Castellano, Inmaculada, Barbero Aguirre, Pedro, Meléndez Moral, Juan Carlos, Facultat de Psicologia. Programes interdepartamentals
المصدر: RODERIC: Repositorio Institucional de la Universitat de Valéncia
instname
RODERIC. Repositorio Institucional de la Universitat de Valénciaمصطلحات موضوعية: UNESCO::CIENCIAS MÉDICAS, PSICOLOGÍA [UNESCO], UNESCO::PSICOLOGÍA, CIENCIAS MÉDICAS [UNESCO], distrofia muscular de duchenne, distrofia muscular de becker
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0507953ecf7d068116d9ca8cd9643051
https://hdl.handle.net/10550/79923 -
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المصدر: Repertorio de Medicina y Cirugía, Vol 28, Iss 2 (2019)
Repositorio Digital Institucional ReDi
Fundación Universitaria de Ciencias de la Salud-FUCS
instacron:Fundación Universitaria de Ciencias de la Salud-FUCSمصطلحات موضوعية: 0301 basic medicine, Duchenne muscular dystrophy, Economics and Econometrics, Medicine (General), Duplication, Duplicación, 03 medical and health sciences, Exon, 0302 clinical medicine, R5-920, Dystrophinopathies, Gene duplication, Materials Chemistry, Media Technology, medicine, Distrofia muscular de Becker, Muscular dystrophy, Distrofinopatías, Gene, X chromosome, Genetics, business.industry, Point mutation, Forestry, medicine.disease, Phenotype, Distrofia muscular de Duchenne, 030104 developmental biology, X-linked muscular dystrophy, Becker, Distrofia muscular ligada a X, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf; text/html; application/xml; application/epub+zip; audio/mpeg
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ead90a6051812462633f023efca1fce
https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/920 -
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المؤلفون: Eslava Otálora, Andrea Cecilia
المساهمون: Mateus Arbelaez, Heidi Eliana
المصدر: Aartsma-rus, A., Bremmer-bout, M., Janson, A. A. M., Dunnen, J. T. Den, Ommen, G. B. Van, & Deutekom, J. C. T. Van. (2002). Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy, 12.
Aartsma-Rus, A., Ferlini, A., & Vroom, E. (2014). Biomarkers and surrogate endpoints in Duchenne: Meeting report. Neuromuscular Disorders, 24(8), 743–745. http://doi.org/10.1016/j.nmd.2014.03.006
Aartsma-Rus, A., Fokkema, I., Verschuuren, J., Ginjaar, I., Van Deutekom, J., Van Ommen, G. J., & Den Dunnen, J. T. (2009). Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Human Mutation, 30(3), 293–299. http://doi.org/10.1002/humu.20918
Aartsma-rus, A., Ginjaar, I. B., & Bushby, K. (2016). The importance of genetic diagnosis for Duchenne muscular dystrophy, 1–7. http://doi.org/10.1136/jmedgenet-2015-103387
Aartsma-Rus, A., Van Deutekom, J. C. T., Fokkema, I. F., Van Ommen, G. J. B., & Den Dunnen, J. T. (2006). Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle and Nerve, 34(2), 135–144. http://doi.org/10.1002/mus.20586
Abbs, S., Tuffery-Giraud, S., Bakker, E., Ferlini, A., Sejersen, T., & Mueller, C. R. (2010a). Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscular Disorders : NMD, 20(6), 422–7. http://doi.org/10.1016/j.nmd.2010.04.005
Abbs, S., Tuffery-Giraud, S., Bakker, E., Ferlini, A., Sejersen, T., & Mueller, C. R. (2010b). Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscular Disorders : NMD, 20(6), 422–7. http://doi.org/10.1016/j.nmd.2010.04.005
Bladen, C. L., Rafferty, K., Straub, V., Monges, S., Moresco, A., Dawkins, H., … Lochmüller, H. (2013). The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Human Mutation, 34(11), 1449–57. http://doi.org/10.1002/humu.22390
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Brabec, P., Vondráček, P., Klimeš, D., Baumeister, S., Lochmüller, H., Pavlík, T., & Gregor, J. (2009). Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach. Neuromuscular Disorders, 19(4), 250–254. http://doi.org/10.1016/j.nmd.2009.01.005
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Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., … Constantin, C. (2010a). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurology, 9(1), 77–93. http://doi.org/10.1016/S1474-4422(09)70271-6
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., … Constantin, C. (2010b). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurology, 9(1), 77–93. http://doi.org/10.1016/S1474-4422(09)70271-6
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., … Constantin, C. (2010c). Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurology, 9(2), 177–89. http://doi.org/10.1016/S1474-4422(09)70272-8
Chaustre, D. M., & Chona, W. S. (2011). Distrofia Muscular de Duchenne. Perspectivas Desde La Rehabilitación. Revista Facultad de Medicina, 19(1), 45–55.
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Esterhuizen, A. I., Wilmshurst, J. M., Goliath, R. G., & Greenberg, L. J. (2014). Duchenne muscular dystrophy: High-resolution melting curve analysis as an affordable diagnostic mutation scanning tool in a South African cohort. South African Medical Journal, 104(11), 779. http://doi.org/10.7196/samj.8257
Fairclough, R. J., Wood, M. J., & Davies, K. E. (2013). Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches. Nature Reviews. Genetics, 14(6), 373–8. http://doi.org/10.1038/nrg3460
Flanigan, K. M., Voit, T., Rosales, X. Q., Servais, L., Kraus, J. E., Wardell, C., … Wright, P. (2014). Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trial. Neuromuscular Disorders, 24(1), 16–24. http://doi.org/10.1016/j.nmd.2013.09.004
Gatheridge, M. A., Kwon, J. M., Mendell, J. M., Scheuerbrandt, G., Moat, S. J., Eyskens, F., … Griggs, R. C. (2015). Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review. JAMA Neurology, 73(1), 1–7. http://doi.org/10.1001/jamaneurol.2015.3537
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Li, X., Zhao, L., Zhou, S., Hu, C., Shi, Y., Shi, W., … Wang, Y. (2015). A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China. Orphanet Journal of Rare Diseases, 10(1), 5. http://doi.org/10.1186/s13023-014-0220-7
Lochm, H., Lynn, S., Roy-toole, C., Braun, S., Board, T. G., Meeting, T. O. C., … Nmds, M. (2014). CHARTER FOR THE TREAT-NMD PATIENT DATABASE / REGISTRY, (October 2007).
Lynn, S., Aartsma-Rus, A., Bushby, K., Furlong, P., Goemans, N., De Luca, A., … Straub, V. (2015). Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. Neuromuscular Disorders, 25(1), 96–105. http://doi.org/10.1016/j.nmd.2014.09.003
Mah, J. K., Korngut, L., Dykeman, J., Day, L., Pringsheim, T., & Jette, N. (2014). A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscular Disorders : NMD, 24(6), 482–91. http://doi.org/10.1016/j.nmd.2014.03.008
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Pane, M., Fanelli, L., Mazzone, E. S., Olivieri, G., D’Amico, A., Messina, S., … Mercuri, E. (2015). Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. Neuromuscular Disorders, 25(10), 749–753. http://doi.org/10.1016/j.nmd.2015.07.009
Pane, M., Lombardo, M. E., Alfieri, P., D’Amico, A., Bianco, F., Vasco, G., … Mercuri, E. (2012). Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. The Journal of Pediatrics, 161(4), 705–9.e1. http://doi.org/10.1016/j.jpeds.2012.03.020
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Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosarioمصطلحات موضوعية: Duchenne muscular dystrophy, Genética evolutiva, Distrofia muscular de Duchenne, Becker muscular dystrophy, Genética Médica, Dystrophinopathies, Origen del hombre, Distrofia muscular de Becker, Genética humana, Distrofinopatías, Enfermedades
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2675927b665a7a36b1f4f8165ce62bc4
http://repository.urosario.edu.co/handle/10336/12351 -
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المؤلفون: Vale, Cláudia Patrícia Sousa do
المساهمون: Rosado, Pedro Simões
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Miocardiopatia Dilatada Associada Ao Cromossoma X, Distrofia Muscular de Duchenne, Miocardiopatias, Distrofinopatias, Distrofia Muscular de Becker, Ciências Médicas::Ciências da Saúde [Domínio/Área Científica]
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::b8a755d86eeb05dcd4c1fb6e02ce3290
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المصدر: Brazilian Journal in Health Promotion; Vol. 18 No. 1 (2005); 41-49
Revista Brasileña en Promoción de la Salud; Vol. 18 Núm. 1 (2005); 41-49
Revista Brasileira em Promoção da Saúde; v. 18 n. 1 (2005); 41-49
Revista Brasileira em Promoção da Saúde
Universidade de Fortaleza (Unifor)
instacron:UFORمصطلحات موضوعية: Distrofia Muscular de Duchenne, Distrofia Muscular de Becker, Fisioterapia, Distrofias musculares
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