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Journal Abstract Search


331 related items for PubMed ID: 10942431

  • 21. Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy.
    Wakayama Y, Inoue M, Kojima H, Yamashita S, Shibuya S, Jimi T, Hara H, Matsuzaki Y, Oniki H, Kanagawa M, Kobayashi K, Toda T.
    Histol Histopathol; 2008 Dec; 23(12):1425-38. PubMed ID: 18830929
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  • 22. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
    Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM.
    Hum Mol Genet; 1996 Dec; 5(12):1953-61. PubMed ID: 8968749
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  • 25. A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.
    van der Kooi AJ, de Visser M, van Meegen M, Ginjaar HB, van Essen AJ, Jennekens FG, Jongen PJ, Leschot NJ, Bolhuis PA.
    Neuromuscul Disord; 1998 Jun; 8(5):305-8. PubMed ID: 9673983
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  • 26. A novel insert mutation in gamma-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy.
    Lin S, Ramelli GP, Moser H, Gallati S, Burgunder JM.
    J Neurol; 2002 Nov; 249(11):1608-11. PubMed ID: 12532930
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  • 33. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
    Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C.
    Nat Genet; 1995 Nov; 11(3):257-65. PubMed ID: 7581448
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  • 36. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.
    McNally EM, Ly CT, Kunkel LM.
    FEBS Lett; 1998 Jan 23; 422(1):27-32. PubMed ID: 9475163
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  • 38. [Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy].
    Akaike M, Kawai H.
    Rinsho Byori; 1997 Feb 23; 45(2):136-40. PubMed ID: 9120997
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  • 39. [Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)].
    Matsumura K.
    Nihon Rinsho; 1997 Dec 23; 55(12):3154-8. PubMed ID: 9436427
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  • 40. New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency.
    Higuchi I, Iwaki H, Kawai H, Endo T, Kunishige M, Fukunaga H, Nakagawa M, Arimura K, Osame M.
    J Neurol Sci; 1997 Dec 09; 153(1):100-5. PubMed ID: 9455986
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