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Journal Abstract Search

204 related items for PubMed ID: 16650086

  • 1. Screening of the CAPN3 gene in patients with possible LGMD2A.
    Krahn M, Bernard R, Pecheux C, Hammouda el H, Eymard B, Lopez de Munain A, Cobo AM, Romero N, Urtizberea A, Leturcq F, Levy N, Calpain Study Group of the French LGMD Network.
    Clin Genet; 2006 May; 69(5):444-9. PubMed ID: 16650086
    [No Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
    Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A.
    Brain; 2005 Apr; 128(Pt 4):732-42. PubMed ID: 15689361
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  • 4. 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]

  • 5. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
    van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.
    Neurology; 2007 Jun 12; 68(24):2125-8. PubMed ID: 17562833
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  • 6. Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
    Stehlíková K, Zapletalová E, Sedlácková J, Hermanová M, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Vohánka S, Fajkus J, Fajkusová L.
    Neuromuscul Disord; 2007 Feb 12; 17(2):143-7. PubMed ID: 17157502
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  • 7. [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 12; 166(5):502-8. PubMed ID: 20044116
    [Abstract] [Full Text] [Related]

  • 8. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
    Hermanová M, Zapletalová E, Sedlácková J, Chrobáková T, Letocha O, Kroupová I, Zámecník J, Vondrácek P, Mazanec R, Maríková T, Vohánka S, Fajkusová L.
    Muscle Nerve; 2006 Mar 12; 33(3):424-32. PubMed ID: 16372320
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  • 13. Novel mutations in the calpain 3 gene in Germany.
    Todorova A, Kress W, Mueller C.
    Clin Genet; 2005 Apr 12; 67(4):356-8. PubMed ID: 15733273
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  • 15. A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
    Starling A, Schlesinger D, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.
    Neurology; 2005 Dec 13; 65(11):1832-3. PubMed ID: 16344536
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  • 16. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
    Hadj Salem I, Kamoun F, Louhichi N, Rouis S, Mziou M, Fendri-Kriaa N, Makni-Ayadi F, Triki C, Fakhfakh F.
    Biosci Rep; 2011 Apr 13; 31(2):125-35. PubMed ID: 20477750
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  • 17. 550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A--clinically misdiagnosed cases.
    Georgieva B, Todorova A, Tournev I, Mitev V, Plageras P, Kremensky I.
    Am J Med Genet A; 2005 Aug 01; 136A(4):399-400. PubMed ID: 16001438
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  • 20. Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
    Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M.
    J Neuromuscul Dis; 2021 Aug 01; 8(1):125-136. PubMed ID: 33337384
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