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Journal Abstract Search

151 related items for PubMed ID: 9565988

  • 1. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.
    Duclos F, Broux O, Bourg N, Straub V, Feldman GL, Sunada Y, Lim LE, Piccolo F, Cutshall S, Gary F, Quetier F, Kaplan JC, Jackson CE, Beckmann JS, Campbell KP.
    Neuromuscul Disord; 1998 Feb; 8(1):30-8. PubMed ID: 9565988
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  • 2. 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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  • 3. 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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  • 7. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
    Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP.
    Neurogenetics; 1997 May; 1(1):49-58. PubMed ID: 10735275
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  • 10. [Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].
    García-García D, Teijeira-Bautista S, Fernández-Rodríguez JM, Flores-Calvete J, Sánchez-Espíldora P, Fernández-Couto D, Cimas-Hernando I, Teijeiro-Ferreira A, Fernández-Hojas R, Brasa-Fernández Fierros J, Martínez de Alegría A, Escribano-Arias JL, Núñez-Delgado M, Navarro-Fernández Balbuena C.
    Rev Neurol; 1998 Jun; 26(154):905-11. PubMed ID: 9658457
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  • 12. Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy.
    Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, Venzke DP, Sunada Y, Moomaw CR, Leveille CJ, Slaughter CA, Crawford TO, McPherson JD, Campbell KP.
    J Biol Chem; 1996 Dec 13; 271(50):32321-9. PubMed ID: 8943294
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  • 16. Novel mutations in three patients with LGMD2C with phenotypic differences.
    Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC.
    Pediatr Neurol; 2004 Apr 13; 30(4):291-4. PubMed ID: 15087111
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  • 19. 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 13; 8(5):305-8. PubMed ID: 9673983
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