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Journal Abstract Search

238 related items for PubMed ID: 14678800

  • 1. 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; 13(10):779-87. PubMed ID: 14678800
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  • 6. Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.
    Sewry CA, Taylor J, Anderson LV, Ozawa E, Pogue R, Piccolo F, Bushby K, Dubowitz V, Muntoni F.
    Neuromuscul Disord; 1996 Dec; 6(6):467-74. PubMed ID: 9027857
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  • 7. 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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  • 8. 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
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  • 11. Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex.
    Barresi R, Moore SA, Stolle CA, Mendell JR, Campbell KP.
    J Biol Chem; 2000 Dec 08; 275(49):38554-60. PubMed ID: 10993904
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  • 12. 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 08; 34(12):973-7. PubMed ID: 9429136
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  • 15. 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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  • 16. Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies.
    Vorgerd M, Gencik M, Mortier J, Epplen JT, Malin JP, Mortier W.
    Muscle Nerve; 2001 Mar 09; 24(3):421-4. PubMed ID: 11353430
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  • 17. [The frequency of patients with adhalin deficiency in a muscular dystrophy patient population].
    Hayashi YK, Arahata K.
    Nihon Rinsho; 1997 Dec 09; 55(12):3165-8. PubMed ID: 9436429
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  • 18. 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
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  • 20. Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.
    Angelini C, Fanin M, Menegazzo E, Freda MP, Duggan DJ, Hoffman EP.
    Muscle Nerve; 1998 Jun 09; 21(6):769-75. PubMed ID: 9585331
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