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Journal Abstract Search

368 related items for PubMed ID: 23607914

  • 41. Limb-girdle muscular dystrophy due to emerin gene mutations.
    Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.
    Arch Neurol; 2007 Jul; 64(7):1038-41. PubMed ID: 17620497
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  • 43. The limb-girdle muscular dystrophies.
    Wicklund MP, Kissel JT.
    Neurol Clin; 2014 Aug; 32(3):729-49, ix. PubMed ID: 25037088
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  • 44. Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.
    Shin JH, Kim HS, Lee CH, Kim CM, Park KH, Kim DS.
    J Korean Med Sci; 2007 Jun; 22(3):463-9. PubMed ID: 17596655
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  • 46. A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.
    Xu J, Xu L, Lau YS, Gao Y, Moore SA, Han R.
    J Pathol Clin Res; 2018 Apr; 4(2):135-145. PubMed ID: 29665321
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  • 47. Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.
    Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M.
    Eur J Neurol; 2013 Jun; 20(6):968-74. PubMed ID: 23530687
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  • 49. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
    Witting N, Duno M, Petri H, Krag T, Bundgaard H, Kober L, Vissing J.
    J Neurol; 2013 Aug; 260(8):2084-93. PubMed ID: 23670307
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  • 50. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
    Schwartz M, Hertz JM, Sveen ML, Vissing J.
    Neurology; 2005 May 10; 64(9):1635-7. PubMed ID: 15883334
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  • 51. Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].
    Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA.
    Muscle Nerve; 2013 May 10; 47(5):740-7. PubMed ID: 23519732
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  • 52. Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
    Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK.
    J Neuropathol Exp Neurol; 2009 Jun 10; 68(6):701-7. PubMed ID: 19458539
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  • 53. Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
    Pathak P, Sharma MC, Sarkar C, Jha P, Suri V, Mohd H, Singh S, Bhatia R, Gulati S.
    Neurol India; 2010 Jun 10; 58(4):549-54. PubMed ID: 20739790
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  • 56. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
    Løkken N, Born AP, Duno M, Vissing J.
    Muscle Nerve; 2015 Oct 10; 52(4):547-53. PubMed ID: 25663498
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  • 57. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
    Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN.
    Neuromuscul Disord; 2008 Jan 10; 18(1):34-44. PubMed ID: 17897828
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