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Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophyFrank, Diane E ; Schnell, Frederick J ; Akana, Cody ; El-Husayni, Saleh H ; Desjardins, Cody A ; Morgan, Jennifer ; Charleston, Jay S ; Sardone, Valentina ; Domingos, Joana ; Dickson, George ; Straub, Volker ; Guglieri, Michela ; Mercuri, Eugenio ; Servais, Laurent ; Muntoni, FrancescoNeurology, 2020-05, Vol.94 (21), p.e2270-e2282 [Periódico revisado por pares]United States: American Academy of NeurologyTexto completo disponível |
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Growth pattern trajectories in boys with Duchenne muscular dystrophyStimpson, Georgia ; Raquq, Sarah ; Chesshyre, Mary ; Fewtrell, Mary ; Ridout, Deborah ; Sarkozy, Anna ; Manzur, Adnan ; Ayyar Gupta, Vandana ; De Amicis, Ramona ; Muntoni, Francesco ; Baranello, GiovanniOrphanet journal of rare diseases, 2022-01, Vol.17 (1), p.20-20, Article 20 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Distinct roles of the dystrophin-glycoprotein complex: α-dystrobrevin and α-syntrophin in the maintenance of the postsynaptic apparatus of the neuromuscular synapseValenzuela, Isabel Martinez-Pena Y ; Chen, Po-Ju ; Barden, Joseph ; Kosloski, Olivia ; Akaaboune, MohammedHuman molecular genetics, 2022-07, Vol.31 (14), p.2370-2385 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Variants in DTNA cause a mild, dominantly inherited muscular dystrophyNascimento, Andres ; Bruels, Christine C. ; Donkervoort, Sandra ; Foley, A. Reghan ; Codina, Anna ; Milisenda, Jose C. ; Estrella, Elicia A. ; Li, Chengcheng ; Pijuan, Jordi ; Draper, Isabelle ; Hu, Ying ; Stafki, Seth A. ; Pais, Lynn S. ; Ganesh, Vijay S. ; O’Donnell-Luria, Anne ; Syeda, Safoora B. ; Carrera-García, Laura ; Expósito-Escudero, Jessica ; Yubero, Delia ; Martorell, Loreto ; Pinal-Fernandez, Iago ; Lidov, Hart G. W. ; Mammen, Andrew L. ; Grau-Junyent, Josep M. ; Ortez, Carlos ; Palau, Francesc ; Ghosh, Partha S. ; Darras, Basil T. ; Jou, Cristina ; Kunkel, Louis M. ; Hoenicka, Janet ; Bönnemann, Carsten G. ; Kang, Peter B. ; Natera-de Benito, DanielActa neuropathologica, 2023-04, Vol.145 (4), p.479-496 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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ABC of multifaceted dystrophin glycoprotein complex (DGC)Bhat, Hina F. ; Mir, Saima S. ; Dar, Khalid B. ; Bhat, Zuhaib F. ; Shah, Riaz A. ; Ganai, Nazir A.Journal of cellular physiology, 2018-07, Vol.233 (7), p.5142-5159 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Generation of dystrophin short product-specific tag-insertion mouse: distinct Dp71 glycoprotein complexes at inhibitory postsynapse and glia limitansFujimoto, Takahiro ; Yaoi, Takeshi ; Nakano, Kenta ; Arai, Tetsuya ; Okamura, Tadashi ; Itoh, KyokoCellular and molecular life sciences : CMLS, 2022-02, Vol.79 (2), p.109-109, Article 109 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
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Material Type: Artigo
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Mice lacking α-, β1- and β2-syntrophins exhibit diminished function and reduced dystrophin expression in both cardiac and skeletal muscleKim, Min Jeong ; Whitehead, Nicholas P ; Bible, Kenneth L ; Adams, Marvin E ; Froehner, Stanley CHuman molecular genetics, 2019-02, Vol.28 (3), p.386-395 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissueHaenggi, T ; Fritschy, J-MCellular and molecular life sciences : CMLS, 2006-07, Vol.63 (14), p.1614-1631 [Periódico revisado por pares]Switzerland: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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A Dystrophin Exon-52 Deleted Miniature Pig Model of Duchenne Muscular Dystrophy and Evaluation of Exon SkippingEchigoya, Yusuke ; Trieu, Nhu ; Duddy, William ; Moulton, Hong M ; Yin, HaiFang ; Partridge, Terence A ; Hoffman, Eric P ; Kornegay, Joe N ; Rohret, Frank A ; Rogers, Christopher S ; Yokota, ToshifumiInternational journal of molecular sciences, 2021-12, Vol.22 (23), p.13065 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Dystrobrevin is required postsynaptically for homeostatic potentiation at the Drosophila NMJJantrapirom, Salinee ; Nimlamool, Wutigri ; Temviriyanukul, Piya ; Ahmadian, Somaieh ; Locke, Cody J. ; Davis, Graeme W. ; Yamaguchi, Masamitsu ; Noordermeer, Jasprina N. ; Fradkin, Lee G. ; Potikanond, SaranyapinBiochimica et biophysica acta. Molecular basis of disease, 2019-06, Vol.1865 (6), p.1579-1591 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |