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Journal Abstract Search

142 related items for PubMed ID: 17711718

  • 1. [Same genotype and different phenotypes in a family with PRKAG2 gene mutation].
    Hong K, Oliva A, Cheng XS, Brugada P, Brugada J, Sternick EB, Brugada R.
    Zhonghua Xin Xue Guan Bing Za Zhi; 2007 Jun; 35(6):552-4. PubMed ID: 17711718
    [Abstract] [Full Text] [Related]

  • 2. Familial pseudo-Wolff-Parkinson-White syndrome.
    Sternick EB, Oliva A, Magalhães LP, Gerken LM, Hong K, Santana O, Brugada P, Brugada J, Brugada R.
    J Cardiovasc Electrophysiol; 2006 Jul; 17(7):724-32. PubMed ID: 16836667
    [Abstract] [Full Text] [Related]

  • 3. Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q.
    Hu J, Tang B, Wang J, Huang K, Wang Y, Lu S, Gowreesunkur HB, Wang Y, Wu D, Mayala HA, Wang ZH.
    Curr Med Sci; 2020 Jun; 40(3):486-492. PubMed ID: 32681253
    [Abstract] [Full Text] [Related]

  • 4. 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; 14(3):263-8. PubMed ID: 12716108
    [Abstract] [Full Text] [Related]

  • 5. [A familial form of conduction defects associated with a PRKAG2 gene mutation].
    Pochmalicki G, Genest M, Richard P, Komajda M, Charron P.
    Arch Mal Coeur Vaiss; 2007 Sep; 100(9):760-5. PubMed ID: 18033003
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.
    Bayrak F, Komurcu-Bayrak E, Mutlu B, Kahveci G, Basaran Y, Erginel-Unaltuna N.
    Eur J Heart Fail; 2006 Nov 18; 8(7):712-5. PubMed ID: 16716659
    [Abstract] [Full Text] [Related]

  • 8. A familial form of conduction defect related to a mutation in the PRKAG2 gene.
    Charron P, Genest M, Richard P, Komajda M, Pochmalicki G.
    Europace; 2007 Aug 18; 9(8):597-600. PubMed ID: 17483151
    [Abstract] [Full Text] [Related]

  • 9. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
    Arad M, Benson DW, Perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, McGarry K, Seidman JG, Seidman CE.
    J Clin Invest; 2002 Feb 18; 109(3):357-62. PubMed ID: 11827995
    [Abstract] [Full Text] [Related]

  • 10. CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.
    Ben Jehuda R, Eisen B, Shemer Y, Mekies LN, Szantai A, Reiter I, Cui H, Guan K, Haron-Khun S, Freimark D, Sperling SR, Gherghiceanu M, Arad M, Binah O.
    Heart Rhythm; 2018 Feb 18; 15(2):267-276. PubMed ID: 28917552
    [Abstract] [Full Text] [Related]

  • 11. Electrophysiologic characterization and postnatal development of ventricular pre-excitation in a mouse model of cardiac hypertrophy and Wolff-Parkinson-White syndrome.
    Patel VV, Arad M, Moskowitz IP, Maguire CT, Branco D, Seidman JG, Seidman CE, Berul CI.
    J Am Coll Cardiol; 2003 Sep 03; 42(5):942-51. PubMed ID: 12957447
    [Abstract] [Full Text] [Related]

  • 12. High risk of sudden death associated with a PRKAG2-related familial Wolff-Parkinson-White syndrome.
    Zhang LP, Hui B, Gao BR.
    J Electrocardiol; 2011 Sep 03; 44(4):483-6. PubMed ID: 20381067
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders.
    van der Steld LP, Rocha MS, Ladeia AMT, Livramento HL, Campos GB, Darrieux FCDC, Campuzano O, Brugada R.
    Einstein (Sao Paulo); 2024 Apr 01; 22():eAO0549. PubMed ID: 39082507
    [Abstract] [Full Text] [Related]

  • 15. Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family.
    van der Steld LP, Campuzano O, Pérez-Serra A, Moura de Barros Zamorano M, Sousa Matos S, Brugada R.
    Am J Case Rep; 2017 Jul 10; 18():766-776. PubMed ID: 28690312
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 76(6):1034-49. PubMed ID: 15877279
    [Abstract] [Full Text] [Related]

  • 17. When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.
    Micaglio E, Tondi L, Benedetti S, Schiavo MA, Camporeale A, Disabato G, Attanasio A, Guida G, Carrafiello G, Piepoli M, Spagnolo P, Pappone C, Lombardi M.
    Int J Mol Sci; 2024 Aug 23; 25(17):. PubMed ID: 39273120
    [Abstract] [Full Text] [Related]

  • 18. Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.
    Arad M, Moskowitz IP, Patel VV, Ahmad F, Perez-Atayde AR, Sawyer DB, Walter M, Li GH, Burgon PG, Maguire CT, Stapleton D, Schmitt JP, Guo XX, Pizard A, Kupershmidt S, Roden DM, Berul CI, Seidman CE, Seidman JG.
    Circulation; 2003 Jun 10; 107(22):2850-6. PubMed ID: 12782567
    [Abstract] [Full Text] [Related]

  • 19. Human γ2-AMPK Mutations.
    Yavari A, Sarma D, Sternick EB.
    Methods Mol Biol; 2018 Jun 10; 1732():581-619. PubMed ID: 29480501
    [Abstract] [Full Text] [Related]

  • 20. Cardiac manifestations of PRKAG2 mutation.
    Banankhah P, Fishbein GA, Dota A, Ardehali R.
    BMC Med Genet; 2018 Jan 03; 19(1):1. PubMed ID: 29298659
    [Abstract] [Full Text] [Related]

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