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Journal Abstract Search

197 related items for PubMed ID: 9762961

  • 1. Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
    Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A.
    Brain; 1998 Sep; 121 ( Pt 9)():1735-47. PubMed ID: 9762961
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  • 2. A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.
    Cobo AM, Sáenz A, Poza JJ, Urtasun M, Indakoetxea B, Urtizberea JA, López de Munain A, Calafell F.
    Hum Biol; 2004 Oct; 76(5):731-41. PubMed ID: 15757244
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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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  • 7. Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
    Fanin M, Fulizio L, Nascimbeni AC, Spinazzi M, Piluso G, Ventriglia VM, Ruzza G, Siciliano G, Trevisan CP, Politano L, Nigro V, Angelini C.
    Hum Mutat; 2004 Jul; 24(1):52-62. PubMed ID: 15221789
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  • 8. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
    Chae J, Minami N, Jin Y, Nakagawa M, Murayama K, Igarashi F, Nonaka I.
    Neuromuscul Disord; 2001 Sep; 11(6-7):547-55. PubMed ID: 11525884
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  • 9. 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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  • 10. Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
    Minami N, Nishino I, Kobayashi O, Ikezoe K, Goto Y, Nonaka I.
    J Neurol Sci; 1999 Dec 01; 171(1):31-7. PubMed ID: 10567047
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  • 16. Clinical variability in calpainopathy: what makes the difference?
    de Paula F, Vainzof M, Passos-Bueno MR, de Cássia M Pavanello R, Matioli SR, V B Anderson L, Nigro V, Zatz M.
    Eur J Hum Genet; 2002 Dec 01; 10(12):825-32. PubMed ID: 12461690
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  • 17. 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 01; 22(3):463-9. PubMed ID: 17596655
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  • 18. Calpainopathy-a survey of mutations and polymorphisms.
    Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS.
    Am J Hum Genet; 1999 Jun 01; 64(6):1524-40. PubMed ID: 10330340
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  • 19. Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.
    Tagawa K, Taya C, Hayashi Y, Nakagawa M, Ono Y, Fukuda R, Karasuyama H, Toyama-Sorimachi N, Katsui Y, Hata S, Ishiura S, Nonaka I, Seyama Y, Arahata K, Yonekawa H, Sorimachi H, Suzuki K.
    Hum Mol Genet; 2000 May 22; 9(9):1393-402. PubMed ID: 10814721
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  • 20. 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 May 22; 58(4):549-54. PubMed ID: 20739790
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