BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 31511858)

  • 1. 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; 29(1):20-30. PubMed ID: 31511858
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 135(Pt 7):2048-57. PubMed ID: 22730558
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 118():105658. PubMed ID: 31747538
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Absence of p.R50X
    Tarrasó G; Real-Martinez A; Parés M; Romero-Cortadellas L; Puigros L; Moya L; de Luna N; Brull A; Martín MA; Arenas J; Lucia A; Andreu AL; Barquinero J; Vissing J; Krag TO; Pinós T
    Dis Model Mech; 2020 Jan; 13(1):. PubMed ID: 31848135
    [TBL] [Abstract][Full Text] [Related]  

  • 5. McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
    Nogales-Gadea G; Brull A; Santalla A; Andreu AL; Arenas J; Martín MA; Lucia A; de Luna N; Pinós T
    Hum Mutat; 2015 Jul; 36(7):669-78. PubMed ID: 25914343
    [TBL] [Abstract][Full Text] [Related]  

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

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
    Ortuño-Costela MDC; Cerrada V; Moreno-Izquierdo A; García-Consuegra I; Laberthonnière C; Delourme M; Garesse R; Arenas J; Fuster García C; García García G; Millán JM; Magdinier F; Gallardo ME
    Int J Mol Sci; 2022 Nov; 23(22):. PubMed ID: 36430443
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
    de Luna N; Brull A; Lucia A; Santalla A; Garatachea N; Martí R; Andreu AL; Pinós T
    Neuromuscul Disord; 2014 Dec; 24(12):1079-86. PubMed ID: 25240406
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 48(2):93-100. PubMed ID: 26465709
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon.
    Birch KE; Quinlivan RM; Morris GE
    Neuromuscul Disord; 2013 Jan; 23(1):43-51. PubMed ID: 22818872
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Missense mutations have unexpected consequences: The McArdle disease paradigm.
    García-Consuegra I; Asensio-Peña S; Ballester-Lopez A; Francisco-Velilla R; Pinos T; Pintos-Morell G; Coll-Cantí J; González-Quintana A; Andreu AL; Arenas J; Lucia A; Nogales-Gadea G; Martín MA
    Hum Mutat; 2018 Oct; 39(10):1338-1343. PubMed ID: 30011114
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
    Núñez-Manchón J; Ballester-Lopez A; Koehorst E; Linares-Pardo I; Coenen D; Ara I; Rodriguez-Lopez C; Ramos-Fransi A; Martínez-Piñeiro A; Lucente G; Almendrote M; Coll-Cantí J; Pintos-Morell G; Santos-Lozano A; Arenas J; Martín MA; de Castro M; Lucia A; Santalla A; Nogales-Gadea G
    J Inherit Metab Dis; 2018 Nov; 41(6):1027-1035. PubMed ID: 29926259
    [TBL] [Abstract][Full Text] [Related]  

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

  • 15. McArdle disease in a patient with anorexia nervosa: a case report.
    Dalle Grave R; Patacca E; Conti M; Soave F; Dametti L; Dalle Grave A; Calugi S
    Eat Weight Disord; 2022 Dec; 27(8):3793-3796. PubMed ID: 35871462
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 20(23):. PubMed ID: 31775340
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 593(12):2693-706. PubMed ID: 25873271
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 38(2):221-30. PubMed ID: 25053163
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.
    Nielsen TL; Pinós T; Brull A; Vissing J; Krag TO
    Mol Genet Metab; 2018 Jan; 123(1):21-27. PubMed ID: 29174367
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
    Inal-Gültekin G; Toptaş-Hekimoğlu B; Görmez Z; Gelişin Ö; Durmuş H; Ergüner B; Demirci H; Sağıroğlu MŞ; Parman Y; Deymeer F; Yılmaz-Aydoğan H; Pençe S; Bekircan-Kurt CE; Tan E; Erdem-Özdamar S; Üstek D; Giger U; Öztürk O; Serdaroğlu-Oflazer P
    Neuromuscul Disord; 2017 Nov; 27(11):997-1008. PubMed ID: 28967462
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.