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Journal Abstract Search

303 related items for PubMed ID: 15351423

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  • 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
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  • 4. 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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  • 13. Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
    Pizzanelli C, Mancuso M, Galli R, Choub A, Fanin M, Nascimbeni AC, Siciliano G, Murri L.
    Neurol Sci; 2006 Jun; 27(2):134-6. PubMed ID: 16816913
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  • 14. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
    Jenne DE, Kley RA, Vorgerd M, Schröder JM, Weis J, Reimann H, Albrecht B, Nürnberg P, Thiele H, Müller CR, Meng G, Witt CC, Labeit S.
    Biol Chem; 2005 Jan; 386(1):61-7. PubMed ID: 15843148
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  • 15. [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
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  • 16. 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
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  • 17. CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
    Salem IH, Hsairi I, Mezghani N, Kenoun H, Triki C, Fakhfakh F.
    J Hum Genet; 2012 Feb; 57(2):92-100. PubMed ID: 22158424
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  • 20. 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
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