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Journal Abstract Search

151 related items for PubMed ID: 9565988

  • 21.
    ; . PubMed ID:
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  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Extraocular muscle is spared despite the absence of an intact sarcoglycan complex in gamma- or delta-sarcoglycan-deficient mice.
    Porter JD, Merriam AP, Hack AA, Andrade FH, McNally EM.
    Neuromuscul Disord; 2001 Mar 09; 11(2):197-207. PubMed ID: 11257478
    [Abstract] [Full Text] [Related]

  • 24. 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 09; 249(11):1608-11. PubMed ID: 12532930
    [No Abstract] [Full Text] [Related]

  • 25.
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  • 26. Mutations in the sarcoglycan genes in patients with myopathy.
    Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C.
    N Engl J Med; 1997 Feb 27; 336(9):618-24. PubMed ID: 9032047
    [Abstract] [Full Text] [Related]

  • 27. Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.
    Vainzof M, Moreira ES, Canovas M, Anderson LV, Pavanello RC, Passos-Bueno MR, Zatz M.
    Muscle Nerve; 2000 Jun 27; 23(6):984-8. PubMed ID: 10842281
    [Abstract] [Full Text] [Related]

  • 28. Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
    Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FM, Campbell KP.
    Hum Mol Genet; 2000 Aug 12; 9(13):2019-27. PubMed ID: 10942431
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  • 29.
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  • 30. Loss of sarcolemma nNOS in sarcoglycan-deficient muscle.
    Crosbie RH, Barresi R, Campbell KP.
    FASEB J; 2002 Nov 12; 16(13):1786-91. PubMed ID: 12409321
    [Abstract] [Full Text] [Related]

  • 31. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
    Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E.
    Science; 1995 Nov 03; 270(5237):819-22. PubMed ID: 7481775
    [Abstract] [Full Text] [Related]

  • 32. Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.
    Bönnemann CG, Wong J, Jones KJ, Lidov HG, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN.
    Neuromuscul Disord; 2002 Mar 03; 12(3):273-80. PubMed ID: 11801399
    [Abstract] [Full Text] [Related]

  • 33.
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  • 34. On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers.
    Fischer D, Aurino S, Nigro V, Schröder R.
    Ann Neurol; 2003 Nov 03; 54(5):674-8. PubMed ID: 14595658
    [Abstract] [Full Text] [Related]

  • 35. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.
    Fanin M, Duggan DJ, Mostacciuolo ML, Martinello F, Freda MP, Sorarù G, Trevisan CP, Hoffman EP, Angelini C.
    J Med Genet; 1997 Dec 03; 34(12):973-7. PubMed ID: 9429136
    [Abstract] [Full Text] [Related]

  • 36. Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.
    Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F.
    Neuromuscul Disord; 2003 Dec 03; 13(10):779-87. PubMed ID: 14678800
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  • 37.
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  • 38. Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster.
    Straub V, Duclos F, Venzke DP, Lee JC, Cutshall S, Leveille CJ, Campbell KP.
    Am J Pathol; 1998 Nov 03; 153(5):1623-30. PubMed ID: 9811355
    [Abstract] [Full Text] [Related]

  • 39. Sarcoglycans in muscular dystrophy.
    Hack AA, Groh ME, McNally EM.
    Microsc Res Tech; 1998 Nov 03; 48(3-4):167-80. PubMed ID: 10679964
    [Abstract] [Full Text] [Related]

  • 40. Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy.
    Durbeej M, Sawatzki SM, Barresi R, Schmainda KM, Allamand V, Michele DE, Campbell KP.
    Proc Natl Acad Sci U S A; 2003 Jul 22; 100(15):8910-5. PubMed ID: 12851463
    [Abstract] [Full Text] [Related]

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