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Journal Abstract Search


127 related items for PubMed ID: 12037441

  • 1. Early electromyographic findings in asymptomatic siblings with McArdle's disease.
    Suzuki S, Sato H, Nogawa S, Tanaka K, Amano T, Fukuuchi Y.
    Eur Neurol; 2002; 47(4):245-6. PubMed ID: 12037441
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  • 5. Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.
    Martín MA, Rubio JC, Wevers RA, Van Engelen BG, Steenbergen GC, Van Diggelen OP, De Visser M, De Die-Smulders C, Blázquez A, Andreu AL, Arenas J.
    Ann Hum Genet; 2004 Jan; 68(Pt 1):17-22. PubMed ID: 14748827
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  • 9. Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
    Paradas C, Fernandez-Cadenas I, Gallardo E, Lligé D, Arenas J, Illa I, Andreu AL.
    Neurosci Lett; 2005 Dec 31; 391(1-2):28-31. PubMed ID: 16154688
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  • 18. A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.
    Martín MA, Rubio JC, Campos Y, Ricoy JR, Cabello A, Arenas J.
    Neuromuscul Disord; 2000 Aug 31; 10(6):447-9. PubMed ID: 10899452
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  • 20. Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
    Hadjigeorgiou GM, Sadeh M, Musumeci O, Dabby R, De Girolami L, Naini A, Papadimitriou A, Shanske S, DiMauro S.
    Neuromuscul Disord; 2002 Nov 31; 12(9):824-7. PubMed ID: 12398832
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