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Journal Abstract Search

152 related items for PubMed ID: 8983689

  • 1. Angina in McArdle's disease.
    Nicholls DP, Campbell NP, Stevenson HP, Patterson VH.
    Heart; 1996 Oct; 76(4):372-3. PubMed ID: 8983689
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  • 2. A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.
    Rubio JC, Martín MA, Campos Y, Auciello R, Cabello A, Arenas J.
    Muscle Nerve; 2000 Jan; 23(1):129-31. PubMed ID: 10590419
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  • 5. 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; 51(4):1228-9. PubMed ID: 9781574
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  • 6. McArdle's disease. The unsolved mystery of the reappearing enzyme.
    Martinuzzi A, Schievano G, Nascimbeni A, Fanin M.
    Am J Pathol; 1999 Jun; 154(6):1893-7. PubMed ID: 10362816
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  • 12. An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).
    Tsujino S, Rubin LA, Shanske S, DiMauro S.
    Hum Mutat; 1994 Jun; 4(1):73-5. PubMed ID: 7951262
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  • 14. A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
    Andreu AL, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, Navarro C, DiMauro S.
    Neuromuscul Disord; 1999 May; 9(3):171-3. PubMed ID: 10382911
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  • 15. Molecular characterization of McArdle's disease in two large Finnish families.
    Bruno C, Löfberg M, Tamburino L, Jänkälä H, Hadjigeorgiou GM, Andreu AL, Shanske S, Somer H, DiMauro S.
    J Neurol Sci; 1999 Jun 01; 165(2):121-5. PubMed ID: 10450796
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  • 16. McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.
    Rubio JC, Martín MA, García A, Campos Y, Cabello A, Culebras JM, Arenas J.
    Neuromuscul Disord; 1999 May 01; 9(3):174-5. PubMed ID: 10382912
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  • 17. Research on molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). Use of new protein mapping and immunological techniques.
    Daegelen-Proux D, Kahn A, Marie J, Dreyfus JC.
    Ann Hum Genet; 1981 May 01; 45(2):113-20. PubMed ID: 6797345
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  • 18. [Late diagnosis of a McArdle disease's case (type V glycogenosis)].
    Flavier S, Rolland MO, Eude M, Fédou C, Brun JF, Maire I, Mercier J, Raynaud E.
    Ann Biol Clin (Paris); 2007 May 01; 65(5):550-4. PubMed ID: 17913675
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  • 19. Unforeseen cardiac involvement in McArdle's disease.
    Moustafa S, Patton DJ, Connelly MS.
    Heart Lung Circ; 2013 Sep 01; 22(9):769-71. PubMed ID: 23337261
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  • 20. 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 01; 10(2):138-40. PubMed ID: 10714589
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