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Journal Abstract Search

129 related items for PubMed ID: 7951262

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  • 3. Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.
    Martín MA, Rubio JC, Campos Y, Vílchez J, Cabello A, Arenas J.
    Hum Mutat; 2000 Mar; 15(3):294. PubMed ID: 10679948
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  • 4. Mutation analysis in myophosphorylase deficiency (McArdle's disease).
    Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW.
    Ann Neurol; 1998 Mar; 43(3):326-31. PubMed ID: 9506549
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  • 6. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.
    Bartram C, Edwards RH, Clague J, Beynon RJ.
    Hum Mol Genet; 1993 Aug; 2(8):1291-3. PubMed ID: 8401511
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  • 9. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
    Tsujino S, Shanske S, Nonaka I, DiMauro S.
    Muscle Nerve Suppl; 1995 Aug; 3():S23-7. PubMed ID: 7603523
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  • 13. 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; 10(6):447-9. PubMed ID: 10899452
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  • 14. Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.
    Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y.
    Clin Chim Acta; 1995 Apr 30; 236(1):81-6. PubMed ID: 7664468
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  • 15. 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 30; 12(9):824-7. PubMed ID: 12398832
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  • 17. A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.
    Rubio JC, Martín MA, Campos Y, Cabello A, Arenas J.
    Neuromuscul Disord; 2000 Feb 30; 10(2):138-40. PubMed ID: 10714589
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  • 18. Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease.
    Tsujino S, Shanske S, Valberg SJ, Cardinet GH, Smith BP, DiMauro S.
    Neuromuscul Disord; 1996 Jan 30; 6(1):19-26. PubMed ID: 8845714
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  • 20. Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.
    Gospe SM, El-Schahawi M, Shanske S, Bruno C, DiMauro S, Hoye E, Walsh DA, Gorin FA.
    Neurology; 1998 Oct 30; 51(4):1228-9. PubMed ID: 9781574
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