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368 related items for PubMed ID: 25762569

  • 1. Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.
    de Luna N, Brull A, Guiu JM, Lucia A, Martin MA, Arenas J, Martí R, Andreu AL, Pinós T.
    Dis Model Mech; 2015 May; 8(5):467-72. PubMed ID: 25762569
    [Abstract] [Full Text] [Related]

  • 2. McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.
    Llavero F, Arrazola Sastre A, Luque Montoro M, Gálvez P, Lacerda HM, Parada LA, Zugaza JL.
    Int J Mol Sci; 2019 Nov 25; 20(23):. PubMed ID: 31775340
    [Abstract] [Full Text] [Related]

  • 3. Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.
    Nogales-Gadea G, Mormeneo E, García-Consuegra I, Rubio JC, Orozco A, Arenas J, Martín MA, Lucia A, Gómez-Foix AM, Martí R, Andreu AL.
    PLoS One; 2010 Oct 05; 5(10):. PubMed ID: 20957198
    [Abstract] [Full Text] [Related]

  • 4. Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.
    Brull A, de Luna N, Blanco-Grau A, Lucia A, Martin MA, Arenas J, Martí R, Andreu AL, Pinós T.
    J Physiol; 2015 Jun 15; 593(12):2693-706. PubMed ID: 25873271
    [Abstract] [Full Text] [Related]

  • 5. Results of an open label feasibility study of sodium valproate in people with McArdle disease.
    Scalco RS, Stemmerik M, Løkken N, Vissing CR, Madsen KL, Michalak Z, Pattni J, Godfrey R, Samandouras G, Bassett P, Holton JL, Krag T, Haller RG, Sewry C, Wigley R, Vissing J, Quinlivan R.
    Neuromuscul Disord; 2020 Sep 15; 30(9):734-741. PubMed ID: 32811700
    [Abstract] [Full Text] [Related]

  • 6. Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.
    Nogales-Gadea G, Pinós T, Lucia A, Arenas J, Camara Y, Brull A, de Luna N, Martín MA, Garcia-Arumí E, Martí R, Andreu AL.
    Brain; 2012 Jul 15; 135(Pt 7):2048-57. PubMed ID: 22730558
    [Abstract] [Full Text] [Related]

  • 7. Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease.
    Migocka-Patrzałek M, Elias M.
    Cells; 2021 Apr 13; 10(4):. PubMed ID: 33924466
    [Abstract] [Full Text] [Related]

  • 8. Investigating sodium valproate as a treatment for McArdle disease in sheep.
    Howell JM, Dunton E, Creed KE, Quinlivan R, Sewry C.
    Neuromuscul Disord; 2015 Feb 13; 25(2):111-9. PubMed ID: 25455802
    [Abstract] [Full Text] [Related]

  • 9. Phosphorylase re-expression, increase in the force of contraction and decreased fatigue following notexin-induced muscle damage and regeneration in the ovine model of McArdle disease.
    Howell JM, Walker KR, Creed KE, Dunton E, Davies L, Quinlivan R, Karpati G.
    Neuromuscul Disord; 2014 Feb 13; 24(2):167-77. PubMed ID: 24309536
    [Abstract] [Full Text] [Related]

  • 10. Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
    McNamara EL, Taylor RL, Clayton JS, Goullee H, Dilworth KL, Pinós T, Brull A, Alexander IE, Lisowski L, Ravenscroft G, Laing NG, Nowak KJ.
    Hum Mol Genet; 2020 Jan 01; 29(1):20-30. PubMed ID: 31511858
    [Abstract] [Full Text] [Related]

  • 11. McArdle disease: molecular genetic update.
    Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C.
    Acta Myol; 2007 Jul 01; 26(1):53-7. PubMed ID: 17915571
    [Abstract] [Full Text] [Related]

  • 12. Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.
    Krag TO, Pinós T, Nielsen TL, Brull A, Andreu AL, Vissing J.
    J Neuropathol Exp Neurol; 2016 May 01; 75(5):441-54. PubMed ID: 27030740
    [Abstract] [Full Text] [Related]

  • 13. The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology.
    Migocka-Patrzałek M, Lewicka A, Elias M, Daczewska M.
    Int J Biochem Cell Biol; 2020 Jan 01; 118():105658. PubMed ID: 31747538
    [Abstract] [Full Text] [Related]

  • 14. Genes and exercise intolerance: insights from McArdle disease.
    Nogales-Gadea G, Godfrey R, Santalla A, Coll-Cantí J, Pintos-Morell G, Pinós T, Arenas J, Martín MA, Lucia A.
    Physiol Genomics; 2016 Feb 01; 48(2):93-100. PubMed ID: 26465709
    [Abstract] [Full Text] [Related]

  • 15. The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
    Nogales-Gadea G, Santalla A, Brull A, de Luna N, Lucia A, Pinós T.
    J Inherit Metab Dis; 2015 Mar 01; 38(2):221-30. PubMed ID: 25053163
    [Abstract] [Full Text] [Related]

  • 16. Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.
    Real-Martinez A, Brull A, Huerta J, Tarrasó G, Lucia A, Martin MA, Arenas J, Andreu AL, Nogales-Gadea G, Vissing J, Krag TO, de Luna N, Pinós T.
    Sci Rep; 2019 Mar 26; 9(1):5116. PubMed ID: 30914683
    [Abstract] [Full Text] [Related]

  • 17. Metabolic aspects of glycogenolysis with special attention to McArdle disease.
    Stefanik E, Dubińska-Magiera M, Lewandowski D, Daczewska M, Migocka-Patrzałek M.
    Mol Genet Metab; 2024 Aug 26; 142(4):108532. PubMed ID: 39018613
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