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Journal Abstract Search

140 related items for PubMed ID: 21623088

  • 21.
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  • 22. Limb-girdle muscular dystrophy due to emerin gene mutations.
    Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.
    Arch Neurol; 2007 Jul; 64(7):1038-41. PubMed ID: 17620497
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  • 23. A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.
    Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, Lévy N.
    Sci Transl Med; 2010 Sep 22; 2(50):50ra69. PubMed ID: 20861509
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  • 24. Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease.
    Fuschillo S, Torrente Y, Balzano G.
    Respir Care; 2010 Aug 22; 55(8):1091-3. PubMed ID: 20667157
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  • 25. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
    Ho M, Post CM, Donahue LR, Lidov HG, Bronson RT, Goolsby H, Watkins SC, Cox GA, Brown RH.
    Hum Mol Genet; 2004 Sep 15; 13(18):1999-2010. PubMed ID: 15254015
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  • 30. 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 15; 68(6):701-7. PubMed ID: 19458539
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  • 31. 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 15; 14(12):810-4. PubMed ID: 15564037
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  • 32. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
    Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R.
    Traffic; 2007 Jan 15; 8(1):77-88. PubMed ID: 17132147
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  • 33. Dysferlin and the plasma membrane repair in muscular dystrophy.
    Bansal D, Campbell KP.
    Trends Cell Biol; 2004 Apr 15; 14(4):206-13. PubMed ID: 15066638
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  • 34. Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies.
    Cárdenas AM, González-Jamett AM, Cea LA, Bevilacqua JA, Caviedes P.
    Exp Neurol; 2016 Sep 15; 283(Pt A):246-54. PubMed ID: 27349407
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  • 37. Proteomic analysis of the skeletal muscles from dysferlinopathy patients.
    Choi YC, Hong JM, Park KD, Shin HY, Kim SM, Park HJ.
    J Clin Neurosci; 2020 Jan 15; 71():186-190. PubMed ID: 31439488
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  • 38. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.
    Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B.
    Brain; 2007 Feb 15; 130(Pt 2):368-80. PubMed ID: 17008331
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  • 39. [Limb-girdle muscular dystrophy; update].
    Sunada Y.
    Rinsho Shinkeigaku; 2004 Nov 15; 44(11):995-7. PubMed ID: 15651352
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  • 40. Variable reduction of caveolin-3 in patients with LGMD2B/MM.
    Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Huebner A, Lochmüller H.
    J Neurol; 2003 Dec 15; 250(12):1431-8. PubMed ID: 14673575
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