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Results: 1 to 20 of 132

Similar articles for PubMed (Select 11371514)

1.

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, Salmon A, Ostman-Smith I, Watkins H.

Hum Mol Genet. 2001 May 15;10(11):1215-20.

2.

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. Epub 2005 May 2.

3.

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.

PMID:
14519435
4.

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;109(3):357-62.

5.

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.

Murphy RT, Mogensen J, McGarry K, Bahl A, Evans A, Osman E, Syrris P, Gorman G, Farrell M, Holton JL, Hanna MG, Hughes S, Elliott PM, Macrae CA, McKenna WJ.

J Am Coll Cardiol. 2005 Mar 15;45(6):922-30.

6.

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.

Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A.

Biochem Biophys Res Commun. 1999 Aug 27;262(2):411-7.

PMID:
10462489
7.

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L.

J Mol Cell Cardiol. 2000 Sep;32(9):1687-94.

PMID:
10966831
8.

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND.

Proc Natl Acad Sci U S A. 1993 May 1;90(9):3993-7.

9.

Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

Doolan A, Tebo M, Ingles J, Nguyen L, Tsoutsman T, Lam L, Chiu C, Chung J, Weintraub RG, Semsarian C.

J Mol Cell Cardiol. 2005 Feb;38(2):387-93. Epub 2005 Jan 27.

PMID:
15698845
10.
12.

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

Waldmüller S, Sakthivel S, Saadi AV, Selignow C, Rakesh PG, Golubenko M, Joseph PK, Padmakumar R, Richard P, Schwartz K, Tharakan JM, Rajamanickam C, Vosberg HP.

J Mol Cell Cardiol. 2003 Jun;35(6):623-36.

PMID:
12788380
13.

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

Arad M, Maron BJ, Gorham JM, Johnson WH Jr, 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.

14.

Gene mutations in apical hypertrophic cardiomyopathy.

Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE.

Circulation. 2005 Nov 1;112(18):2805-11.

15.

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.

Geier C, Perrot A, Ozcelik C, Binner P, Counsell D, Hoffmann K, Pilz B, Martiniak Y, Gehmlich K, van der Ven PF, Fürst DO, Vornwald A, von Hodenberg E, Nürnberg P, Scheffold T, Dietz R, Osterziel KJ.

Circulation. 2003 Mar 18;107(10):1390-5.

16.

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. Epub 2005 Nov 7.

17.

Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.

Matsumoto Y, Hayashi T, Inagaki N, Takahashi M, Hiroi S, Nakamura T, Arimura T, Nakamura K, Ashizawa N, Yasunami M, Ohe T, Yano K, Kimura A.

J Muscle Res Cell Motil. 2005;26(6-8):367-74.

PMID:
16465475
18.

Analysis of 8 sarcomeric candidate genes for feline hypertrophic cardiomyopathy mutations in cats with hypertrophic cardiomyopathy.

Meurs KM, Norgard MM, Kuan M, Haggstrom J, Kittleson M.

J Vet Intern Med. 2009 Jul-Aug;23(4):840-3. doi: 10.1111/j.1939-1676.2009.0341.x.

PMID:
19566849
19.

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.

Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H.

Hum Mutat. 2009 Mar;30(3):363-70. doi: 10.1002/humu.20862.

PMID:
19035361
20.

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.

PMID:
12716108
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