Filtros : "GENÉTICA" "Neuromuscular Disorders" Limpar

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  • Source: Neuromuscular Disorders. Unidade: IB

    Subjects: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA, DOENÇAS GENÉTICAS, GENÉTICA

    Acesso à fonteDOIHow to cite
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    • ABNT

      ZATZ, Mayana et al. Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin. Neuromuscular Disorders, v. 24, n. 2, p. 986-989, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2014.06.003. Acesso em: 27 nov. 2025.
    • APA

      Zatz, M., Pavanello, R. C. M., Lazar, M., Yamamoto, G. L., Lourenço, N. C. V., Cerqueira, A., et al. (2014). Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin. Neuromuscular Disorders, 24( 2), 986-989. doi:10.1016/j.nmd.2014.06.003
    • NLM

      Zatz M, Pavanello RCM, Lazar M, Yamamoto GL, Lourenço NCV, Cerqueira A, Nogueira L, Vainzof M. Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin [Internet]. Neuromuscular Disorders. 2014 ; 24( 2): 986-989.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2014.06.003
    • Vancouver

      Zatz M, Pavanello RCM, Lazar M, Yamamoto GL, Lourenço NCV, Cerqueira A, Nogueira L, Vainzof M. Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin [Internet]. Neuromuscular Disorders. 2014 ; 24( 2): 986-989.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2014.06.003
  • Source: Neuromuscular Disorders. Unidade: IB

    Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, DIAGNÓSTICO, GENÉTICA

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    • ABNT

      NORTH, Kathryn N. et al. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, v. 24, n. 2, p. 97\2013116, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2013.11.003. Acesso em: 27 nov. 2025.
    • APA

      North, K. N., Wang, C. H., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J. J., et al. (2014). Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, 24( 2), 97\2013116. doi:10.1016/j.nmd.2013.11.003
    • NLM

      North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies [Internet]. Neuromuscular Disorders. 2014 ; 24( 2): 97\2013116.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2013.11.003
    • Vancouver

      North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies [Internet]. Neuromuscular Disorders. 2014 ; 24( 2): 97\2013116.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2013.11.003
  • Source: Neuromuscular Disorders. Conference titles: International Congress of The World Muscle Society. Unidade: IB

    Subjects: GENÉTICA, GENOMAS, DISTROFIA MUSCULAR

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    • ABNT

      MOKBEL, N. et al. K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1016/j.nmd.2012.06.143. Acesso em: 27 nov. 2025. , 2012
    • APA

      Mokbel, N., Ilkovski, B., Memo, M., & Vainzof, M. (2012). K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. doi:10.1016/j.nmd.2012.06.143
    • NLM

      Mokbel N, Ilkovski B, Memo M, Vainzof M. K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity [Internet]. Neuromuscular Disorders. 2012 ; 22( 9-10): oct. 845.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2012.06.143
    • Vancouver

      Mokbel N, Ilkovski B, Memo M, Vainzof M. K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity [Internet]. Neuromuscular Disorders. 2012 ; 22( 9-10): oct. 845.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2012.06.143
  • Source: Neuromuscular Disorders. Conference titles: International Congress of The World Muscle Society. Unidade: IB

    Subjects: GENÉTICA, DISTROFIA MUSCULAR

    Acesso à fonteDOIHow to cite
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    • ABNT

      ZATZ, Mayana et al. Duchenne clinically discordant brothers: a "Ringo-like" phenotype in humans?. Neuromuscular Disorders. Perth: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1016/j.nmd.2012.06.115. Acesso em: 27 nov. 2025. , 2012
    • APA

      Zatz, M., Pavanello, R., Vieira, N. M., Gomes, J. P., Assoni, A. F., Anequini, I. P., et al. (2012). Duchenne clinically discordant brothers: a "Ringo-like" phenotype in humans? Neuromuscular Disorders. Perth: Instituto de Biociências, Universidade de São Paulo. doi:10.1016/j.nmd.2012.06.115
    • NLM

      Zatz M, Pavanello R, Vieira NM, Gomes JP, Assoni AF, Anequini IP, Nogueira L, Canovas M, Pelatti M. Duchenne clinically discordant brothers: a "Ringo-like" phenotype in humans? [Internet]. Neuromuscular Disorders. 2012 ; 23( 9-10): 836.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2012.06.115
    • Vancouver

      Zatz M, Pavanello R, Vieira NM, Gomes JP, Assoni AF, Anequini IP, Nogueira L, Canovas M, Pelatti M. Duchenne clinically discordant brothers: a "Ringo-like" phenotype in humans? [Internet]. Neuromuscular Disorders. 2012 ; 23( 9-10): 836.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2012.06.115
  • Source: Neuromuscular Disorders. Conference titles: International Congress of The World Muscle Society. Unidade: IB

    Subjects: GENÉTICA, DISTROFIA MUSCULAR

    Acesso à fonteDOIHow to cite
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    • ABNT

      GUERRIERI, D. Ayub et al. Expression analysis of x-dystroglycosyltransferases in distinct murine muscular dystrophies models. Neuromuscular Disorders. Perth: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1016/j.nmd.2012.06.042. Acesso em: 27 nov. 2025. , 2012
    • APA

      Guerrieri, D. A., Calyjur, P. P., Martins, P. C. M., Oliveira, P. C. G. O., & Vainzof, M. (2012). Expression analysis of x-dystroglycosyltransferases in distinct murine muscular dystrophies models. Neuromuscular Disorders. Perth: Instituto de Biociências, Universidade de São Paulo. doi:10.1016/j.nmd.2012.06.042
    • NLM

      Guerrieri DA, Calyjur PP, Martins PCM, Oliveira PCGO, Vainzof M. Expression analysis of x-dystroglycosyltransferases in distinct murine muscular dystrophies models [Internet]. Neuromuscular Disorders. 2012 ; 22( 9-10): 814.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2012.06.042
    • Vancouver

      Guerrieri DA, Calyjur PP, Martins PCM, Oliveira PCGO, Vainzof M. Expression analysis of x-dystroglycosyltransferases in distinct murine muscular dystrophies models [Internet]. Neuromuscular Disorders. 2012 ; 22( 9-10): 814.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2012.06.042
  • Source: Neuromuscular Disorders. Conference titles: International Congress of The World Muscle Society. Unidade: IB

    Subjects: GENÉTICA, DOENÇAS NEUROMUSCULARES, MUTAÇÃO GENÉTICA

    Acesso à fonteDOIHow to cite
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    • ABNT

      ALMEIDA, C.F. et al. LGMD2G with clinical presentation of congenital muscular dystrophy: a rare phenotype. Neuromuscular Disorders. Perth: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1016/j.nmd.2012.06.099. Acesso em: 27 nov. 2025. , 2012
    • APA

      Almeida, C. F., Lima, B. L., Oliveira, P. C. G. O., Pavanello, R. C. M., Zatz, M., & Vainzof, M. (2012). LGMD2G with clinical presentation of congenital muscular dystrophy: a rare phenotype. Neuromuscular Disorders. Perth: Instituto de Biociências, Universidade de São Paulo. doi:10.1016/j.nmd.2012.06.099
    • NLM

      Almeida CF, Lima BL, Oliveira PCGO, Pavanello RCM, Zatz M, Vainzof M. LGMD2G with clinical presentation of congenital muscular dystrophy: a rare phenotype [Internet]. Neuromuscular Disorders. 2012 ; 22( 9-10): 831.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2012.06.099
    • Vancouver

      Almeida CF, Lima BL, Oliveira PCGO, Pavanello RCM, Zatz M, Vainzof M. LGMD2G with clinical presentation of congenital muscular dystrophy: a rare phenotype [Internet]. Neuromuscular Disorders. 2012 ; 22( 9-10): 831.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2012.06.099
  • Source: Neuromuscular Disorders. Conference titles: International Congress of the World Muscle Society. Unidade: IB

    Subjects: DISTROFIA MUSCULAR ANIMAL, GENÉTICA

    Acesso à fonteDOIHow to cite
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    • ABNT

      SHELTON, G. D et al. Dystrophin-deficient muscular dystrophy in a pedigree of Labrador retrievers without obvious clinical manifestations. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1016/j.nmd.2011.06.758. Acesso em: 27 nov. 2025. , 2011
    • APA

      Shelton, G. D., Vieira, N., Guo, L. T., Bennett, R., Kunkel, L., & Zatz, M. (2011). Dystrophin-deficient muscular dystrophy in a pedigree of Labrador retrievers without obvious clinical manifestations. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. doi:10.1016/j.nmd.2011.06.758
    • NLM

      Shelton GD, Vieira N, Guo LT, Bennett R, Kunkel L, Zatz M. Dystrophin-deficient muscular dystrophy in a pedigree of Labrador retrievers without obvious clinical manifestations [Internet]. Neuromuscular Disorders. 2011 ; 21( 9-10): 640-641.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2011.06.758
    • Vancouver

      Shelton GD, Vieira N, Guo LT, Bennett R, Kunkel L, Zatz M. Dystrophin-deficient muscular dystrophy in a pedigree of Labrador retrievers without obvious clinical manifestations [Internet]. Neuromuscular Disorders. 2011 ; 21( 9-10): 640-641.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2011.06.758

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