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Cytoskeletal protein kinases: titin and its relations in mechanosensingGautel, MathiasPflügers Archiv, 2011-07, Vol.462 (1), p.119-134 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variantJiang, He ; Hooper, Charlotte ; Kelly, Matthew ; Steeples, Violetta ; Simon, Jillian N. ; Beglov, Julia ; Azad, Amar J. ; Leinhos, Lisa ; Bennett, Pauline ; Ehler, Elisabeth ; Kalisch-Smith, Jacinta I. ; Sparrow, Duncan B. ; Fischer, Roman ; Heilig, Raphael ; Isackson, Henrik ; Ehsan, Mehroz ; Patone, Giannino ; Huebner, Norbert ; Davies, Benjamin ; Watkins, Hugh ; Gehmlich, KatjaBasic research in cardiology, 2021-12, Vol.116 (1), p.14, Article 14 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular centerHuang, Kun ; Li, Qiu-Xiang ; Duan, Hui-Qian ; Luo, Yue-Bei ; Bi, Fang-Fang ; Yang, HuanNeurogenetics, 2022, Vol.23 (1), p.37-44 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image patternCotta, Ana ; Paim, Julia Filardi ; da-Cunha-Junior, Antonio Lopes ; Neto, Rafael Xavier ; Nunes, Simone Vilela ; Navarro, Monica Magalhaes ; Valicek, Jaquelin ; Carvalho, Elmano ; Yamamoto, Lydia U ; Almeida, Camila F ; Braz, Shelida Vasconcelos ; Takata, Reinaldo Issao ; Vainzof, MarizBMC clinical pathology, 2014-10, Vol.14 (1), p.41-41, Article 41 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 GPaim, Julia F. ; Cotta, Ana ; Vargas, Antonio P. ; Navarro, Monica M. ; Valicek, Jaquelin ; Carvalho, Elmano ; da-Cunha-Junior, Antonio L. ; Plentz, Estevão ; Braz, Shelida V. ; Takata, Reinaldo I. ; Almeida, Camila F. ; Vainzof, MarizJournal of molecular neuroscience, 2013-06, Vol.50 (2), p.339-344 [Periódico revisado por pares]New York: Humana Press IncTexto completo disponível |
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Material Type: Artigo
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Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging TechnologiesTesi Rocha, Carolina ; Hoffman, Eric P.Current neurology and neuroscience reports, 2010-07, Vol.10 (4), p.267-276 [Periódico revisado por pares]New York: Current Science IncTexto completo disponível |