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Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern (2014)

  • Authors:
  • USP affiliated authors: VAINZOF, MARIZ - IB
  • USP Schools: IB
  • DOI: 10.1186/1472-6890-14-41
  • Subjects: DISTROFIA MUSCULAR; DOENÇAS NEUROMUSCULARES; ESTUDO DE CASO; TOMOGRAFIA; MICROSCOPIA ELETRÔNICA; NEUROFISIOLOGIA; MUTAÇÃO GENÉTICA
  • Language: Inglês
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    Informações sobre o DOI: 10.1186/1472-6890-14-41 (Fonte: oaDOI API)
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    Título do periódico: BMC Clinical Pathology

    ISSN: 1472-6890

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    Informações sobre o Citescore
  • Título: BMC Clinical Pathology

    ISSN: 1472-6890

    Citescore - 2017: 2.77

    SJR - 2017: 1.141

    SNIP - 2017: 1.061


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    • ABNT

      COTTA, Ana; PAIM, Julia Filardi; DA-CUNHA-JUNIOR, Antonio Lopes; et al. Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. BMC Clinical Pathology, London, v. 14, p. 1-5, 2014. Disponível em: < http://dx.doi.org/ 10.1186/1472-6890-14-41 > DOI: 10.1186/1472-6890-14-41.
    • APA

      Cotta, A., Paim, J. F., da-Cunha-Junior, A. L., Xavier Neto, R., Nunes, S. V., Navarro, M. M., et al. (2014). Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. BMC Clinical Pathology, 14, 1-5. doi:10.1186/1472-6890-14-41
    • NLM

      Cotta A, Paim JF, da-Cunha-Junior AL, Xavier Neto R, Nunes SV, Navarro MM, Valicek J, Carvalho E, Yamamoto LU, Almeida CF, Braz SV, Takata RI, Vainzof M. Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern [Internet]. BMC Clinical Pathology. 2014 ; 14 1-5.Available from: http://dx.doi.org/ 10.1186/1472-6890-14-41
    • Vancouver

      Cotta A, Paim JF, da-Cunha-Junior AL, Xavier Neto R, Nunes SV, Navarro MM, Valicek J, Carvalho E, Yamamoto LU, Almeida CF, Braz SV, Takata RI, Vainzof M. Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern [Internet]. BMC Clinical Pathology. 2014 ; 14 1-5.Available from: http://dx.doi.org/ 10.1186/1472-6890-14-41

    Referências citadas na obra
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    Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passo-Bueno MR: The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet. 1997, 61: 151-159. 10.1017/S0003480097006040.
    Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M: Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet. 1999, 82: 392-398. 10.1002/(SICI)1096-8628(19990219)82:5<392::AID-AJMG7>3.0.CO;2-0.
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    Lima BL, Gouveia TL, Pavanello RC, Faulkner G, Valle G, Zatz M, Vainzof M: LGMD2G - screening for mutations in a large sample of Brazilian patients allows the identification of new cases [abstract]. Neuromuscul Disord. 2005, 15: s702-
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    Fischer D, Kley RA, Strach K, Meyer C, Sommer T, Eger K, Rolfs A, Meyer W, Pou A, Pradas J, Heyer CM, Grossmann A, Huebner A, Kress W, Reimann J, Schröder R, Eymard B, Fardeau M, Udd B, Goldfarb L, Vorgerd M, Olive M: Distinct muscle imaging patterns in myofibrillar myopathies. Neurology. 2008, 71: 758-765. 10.1212/01.wnl.0000324927.28817.9b.
    Wattjes MP, Kley RA, Fischer D: Neuromuscular imaging in inherited muscle diseases. Eur Radiol. 2010, 20: 2447-2460. 10.1007/s00330-010-1799-2.
    Starling A, de Paula F, Silva H, Vainzof M, Zatz M: Calpainopathy: how broad is the spectrum of clinical variability?. J Mol Neurosci. 2003, 21: 233-236. 10.1385/JMN:21:3:233.
    Hermanová M, Zapletalová E, Sedlácková J, Chrobáková T, Letocha O, Kroupová I, Zámecník J, Vondrácek P, Mazanec R, Maríková T, Vohánka S, Fajkusová L: Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. Muscle Nerve. 2006, 33: 424-432. 10.1002/mus.20480.
    Gregorio CC, Trombitás K, Centner T, Kolmerer B, Stier G, Kunke K, Suzuki K, Obermayr F, Herrmann B, Granzier H, Sorimachi H, Labeit S: The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. J Cell Biol. 1998, 143: 1013-1027. 10.1083/jcb.143.4.1013.
    Zhang S, Londhe P, Zhang M, Davie JK: Transcriptional analysis of the titin cap gene. Mol Genet Genomics. 2011, 285: 261-272. 10.1007/s00438-011-0603-6.
    Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M: Telethonin protein expression in neuromuscular disorders. Biochim Biophys Acta. 2002, 1588: 33-40. 10.1016/S0925-4439(02)00113-8.