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Journal Abstract Search

338 related items for PubMed ID: 15877279

  • 1. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
    Burwinkel B, Scott JW, Bührer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW.
    Am J Hum Genet; 2005 Jun; 76(6):1034-49. PubMed ID: 15877279
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  • 2. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
    Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S.
    Pediatr Res; 2007 Oct; 62(4):499-504. PubMed ID: 17667862
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  • 4. A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.
    Laforêt P, Richard P, Said MA, Romero NB, Lacene E, Leroy JP, Baussan C, Hogrel JY, Lavergne T, Wahbi K, Hainque B, Duboc D.
    Neuromuscul Disord; 2006 Mar; 16(3):178-82. PubMed ID: 16487706
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  • 5. Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.
    Oliveira SM, Ehtisham J, Redwood CS, Ostman-Smith I, Blair EM, Watkins H.
    J Mol Cell Cardiol; 2003 Oct; 35(10):1251-5. PubMed ID: 14519435
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  • 6. Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
    Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG.
    N Engl J Med; 2005 Jan 27; 352(4):362-72. PubMed ID: 15673802
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  • 8. Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.
    Ahmad F, Arad M, Musi N, He H, Wolf C, Branco D, Perez-Atayde AR, Stapleton D, Bali D, Xing Y, Tian R, Goodyear LJ, Berul CI, Ingwall JS, Seidman CE, Seidman JG.
    Circulation; 2005 Nov 15; 112(20):3140-8. PubMed ID: 16275868
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  • 9. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.
    Gollob MH, Seger JJ, Gollob TN, Tapscott T, Gonzales O, Bachinski L, Roberts R.
    Circulation; 2001 Dec 18; 104(25):3030-3. PubMed ID: 11748095
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  • 10. Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome.
    Vaughan CJ, Hom Y, Okin DA, McDermott DA, Lerman BB, Basson CT.
    J Cardiovasc Electrophysiol; 2003 Mar 18; 14(3):263-8. PubMed ID: 12716108
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  • 11. High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
    Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P.
    Europace; 2017 Apr 01; 19(4):651-659. PubMed ID: 28431061
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  • 12. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
    Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW.
    Eur J Hum Genet; 2003 Jul 01; 11(7):516-26. PubMed ID: 12825073
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  • 13. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
    Maichele AJ, Burwinkel B, Maire I, Søvik O, Kilimann MW.
    Nat Genet; 1996 Nov 01; 14(3):337-40. PubMed ID: 8896567
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  • 15. Functional analysis of mutations in the gamma 2 subunit of AMP-activated protein kinase associated with cardiac hypertrophy and Wolff-Parkinson-White syndrome.
    Daniel T, Carling D.
    J Biol Chem; 2002 Dec 27; 277(52):51017-24. PubMed ID: 12397075
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  • 20. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
    Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW.
    Hum Genet; 1999 Sep 27; 105(3):240-3. PubMed ID: 10987651
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