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Journal Abstract Search

303 related items for PubMed ID: 15351423

  • 21.
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  • 22. 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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  • 25. Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
    Keira Y, Noguchi S, Kurokawa R, Fujita M, Minami N, Hayashi YK, Kato T, Nishino I.
    Neurosci Res; 2007 Apr; 57(4):513-21. PubMed ID: 17258832
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  • 26. Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
    Diers A, Carl M, Stoltenburg-Didinger G, Vorgerd M, Spuler S.
    Neuromuscul Disord; 2007 Feb; 17(2):157-62. PubMed ID: 17129727
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  • 27. 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; 68(6):701-7. PubMed ID: 19458539
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  • 28. Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.
    Au CG, Butler TL, Egan JR, Cooper ST, Lo HP, Compton AG, North KN, Winlaw DS.
    Acta Neuropathol; 2008 Sep; 116(3):235-46. PubMed ID: 18392839
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  • 32. 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; 18(1):34-44. PubMed ID: 17897828
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  • 33. Two novel CAV3 gene mutations in Japanese families.
    Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.
    Neuromuscul Disord; 2004 Dec; 14(12):810-4. PubMed ID: 15564037
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  • 34. Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
    Toral-Ojeda I, Aldanondo G, Lasa-Elgarresta J, Lasa-Fernández H, Fernández-Torrón R, López de Munain A, Vallejo-Illarramendi A.
    Expert Rev Mol Med; 2016 Apr 08; 18():e7. PubMed ID: 27055500
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  • 37. Calpains in muscle wasting.
    Bartoli M, Richard I.
    Int J Biochem Cell Biol; 2005 Oct 08; 37(10):2115-33. PubMed ID: 16125114
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  • 38. Symptomatic dysferlin gene mutation carriers: characterization of two cases.
    Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E.
    Neurology; 2007 Apr 17; 68(16):1284-9. PubMed ID: 17287450
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  • 39. Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
    Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S.
    Hum Mutat; 2006 Jun 17; 27(6):599-600. PubMed ID: 16705711
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  • 40. Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
    Fadaee M, Kariminejad A, Fattahi Z, Nafissi S, Godarzi HR, Beheshtian M, Vazehan R, Akbari MR, Kahrizi K, Najmabadi H.
    Neuromuscul Disord; 2016 Jun 17; 26(4-5):277-82. PubMed ID: 27020652
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