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Journal Abstract Search
234 related items for PubMed ID: 18031465
1. Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques. Kolski HK, Hawkins C, Zatz M, de Paula F, Biggar D, Alman B, Vajsar J. Neuropathology; 2008 Jun; 28(3):264-8. PubMed ID: 18031465 [Abstract] [Full Text] [Related]
2. 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; 58(4):549-54. PubMed ID: 20739790 [Abstract] [Full Text] [Related]
3. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, Koref MS, Straub V, Bushby KM. Brain; 2007 Dec; 130(Pt 12):3237-49. PubMed ID: 18055493 [Abstract] [Full Text] [Related]
4. [Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)]. Perez F, Vital A, Martin-Negrier ML, Ferrer X, Sole G. Rev Neurol (Paris); 2010 May; 166(5):502-8. PubMed ID: 20044116 [Abstract] [Full Text] [Related]
5. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. Chrobáková T, Hermanová M, Kroupová I, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Stanek J, Havlová M, Fajkusová L. Neuromuscul Disord; 2004 Oct; 14(10):659-65. PubMed ID: 15351423 [Abstract] [Full Text] [Related]
8. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. Duno M, Sveen ML, Schwartz M, Vissing J. Eur J Hum Genet; 2008 Aug; 16(8):935-40. PubMed ID: 18337726 [Abstract] [Full Text] [Related]
12. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls. Fanin M, Angelini C. Muscle Nerve; 2015 Aug; 52(2):163-73. PubMed ID: 25900067 [Abstract] [Full Text] [Related]
13. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M. Brain; 2016 Aug; 139(Pt 8):2154-63. PubMed ID: 27259757 [Abstract] [Full Text] [Related]
15. Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. Fanin M, Nascimbeni AC, Angelini C. J Med Genet; 2007 Jan; 44(1):38-43. PubMed ID: 16971480 [Abstract] [Full Text] [Related]