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Journal Abstract Search

168 related items for PubMed ID: 2062570

  • 21. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
    Tsujino S, Shanske S, Nonaka I, DiMauro S.
    Muscle Nerve Suppl; 1995; 3():S23-7. PubMed ID: 7603523
    [Abstract] [Full Text] [Related]

  • 22. Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency.
    Martinuzzi A, Vergani L, Carrozzo R, Fanin M, Bartoloni L, Angelini C, Askanas V, Engel WK.
    J Clin Invest; 1993 Oct; 92(4):1774-80. PubMed ID: 8408630
    [Abstract] [Full Text] [Related]

  • 23. 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
    [No Abstract] [Full Text] [Related]

  • 24. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
    Tsujino S, Shanske S, DiMauro S.
    N Engl J Med; 1993 Jul 22; 329(4):241-5. PubMed ID: 8316268
    [Abstract] [Full Text] [Related]

  • 25. [McArdle's disease: a case report].
    Levy JA, Gagioti SM, Cavalieri MJ, Pereira JR.
    Arq Neuropsiquiatr; 1980 Dec 22; 38(4):411-4. PubMed ID: 6937160
    [Abstract] [Full Text] [Related]

  • 26. McArdle's disease: biochemical and molecular genetic studies.
    Servidei S, Shanske S, Zeviani M, Lebo R, Fletterick R, DiMauro S.
    Ann Neurol; 1988 Dec 22; 24(6):774-81. PubMed ID: 3207360
    [Abstract] [Full Text] [Related]

  • 27. [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 Dec 22; 65(5):550-4. PubMed ID: 17913675
    [Abstract] [Full Text] [Related]

  • 28. Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro.
    Pari G, Crerar MM, Nalbantoglu J, Shoubridge E, Jani A, Tsujino S, Shanske S, DiMauro S, Howell JM, Karpati G.
    Neurology; 1999 Oct 12; 53(6):1352-4. PubMed ID: 10522901
    [Abstract] [Full Text] [Related]

  • 29. Low muscle levels of pyridoxine in McArdle's syndrome.
    Haller RG, Dempsey WB, Feit H, Cook JD, Knochel JP.
    Am J Med; 1983 Feb 12; 74(2):217-20. PubMed ID: 6572033
    [Abstract] [Full Text] [Related]

  • 30. 2,4-Dinitrophenol, muscle biopsy, and McArdle's disease.
    Heller SL, Brooke MH, Kaiser KK, Choski R.
    Neurology; 1988 Jan 12; 38(1):15-9. PubMed ID: 3422109
    [Abstract] [Full Text] [Related]

  • 31. Unforeseen cardiac involvement in McArdle's disease.
    Moustafa S, Patton DJ, Connelly MS.
    Heart Lung Circ; 2013 Sep 12; 22(9):769-71. PubMed ID: 23337261
    [Abstract] [Full Text] [Related]

  • 32. Diagnosis of McArdle's disease by molecular genetic analysis of blood.
    el-Schahawi M, Tsujino S, Shanske S, DiMauro S.
    Neurology; 1996 Aug 12; 47(2):579-80. PubMed ID: 8757044
    [Abstract] [Full Text] [Related]

  • 33. Impairment of sympathetic activation during static exercise in patients with muscle phosphorylase deficiency (McArdle's disease).
    Pryor SL, Lewis SF, Haller RG, Bertocci LA, Victor RG.
    J Clin Invest; 1990 May 12; 85(5):1444-9. PubMed ID: 2332499
    [Abstract] [Full Text] [Related]

  • 34. McArdle's disease: two clinical expressions in the same pedigree.
    Papadimitriou A, Manta P, Divari R, Karabetsos A, Papadimitriou E, Bresolin N.
    J Neurol; 1990 Jul 12; 237(4):267-70. PubMed ID: 2391551
    [Abstract] [Full Text] [Related]

  • 35. Muscle phosphorylase deficiency in childhood.
    Sengers RC, Stadhouders AM, Jaspar HH, Lamers KJ, Trijbels JM, Notermans SL.
    Eur J Pediatr; 1980 Aug 12; 134(2):161-5. PubMed ID: 6934069
    [Abstract] [Full Text] [Related]

  • 36. [McArdle's disease (a familial case)].
    Shevchenko AM.
    Zh Nevropatol Psikhiatr Im S S Korsakova; 1976 Aug 12; 76(5):655-9. PubMed ID: 1065164
    [Abstract] [Full Text] [Related]

  • 37. Late-onset Mcardle's disease with unusual electromyographic findings.
    Pourmand R, Sanders DB, Corwin HM.
    Arch Neurol; 1983 Jun 12; 40(6):374-7. PubMed ID: 6573876
    [Abstract] [Full Text] [Related]

  • 38. A new variant of late-onset myophosphorylase deficiency.
    Kost GJ, Verity MA.
    Muscle Nerve; 1980 Jun 12; 3(3):195-201. PubMed ID: 6929403
    [Abstract] [Full Text] [Related]

  • 39. Mcardle's disease. A case report.
    Dirik E, Taşkin F, Eroğlu Y, Büyükgebiz B, Selamzade M, Cevik NT.
    Turk J Pediatr; 1996 Jun 12; 38(3):355-9. PubMed ID: 8827906
    [Abstract] [Full Text] [Related]

  • 40. Histochemical and biochemical studies in a patient with myophosphorylase deficiency.
    Tachi N, Sasaki K, Tachi M, Sugie H.
    Eur Neurol; 1990 Jun 12; 30(1):52-5. PubMed ID: 2298228
    [Abstract] [Full Text] [Related]

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