-
1
-
-
33646693410
-
-
Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-1816.
-
Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-1816.
-
-
-
-
2
-
-
0033853552
-
Long-term follow-up of 34 adults with isolated left ventricular noncompaction: A distinct cardiomyopathy with poor prognosis
-
Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000;36:493-500.
-
(2000)
J Am Coll Cardiol
, vol.36
, pp. 493-500
-
-
Oechslin, E.N.1
Attenhofer Jost, C.H.2
Rojas, J.R.3
Kaufmann, P.A.4
Jenni, R.5
-
3
-
-
0033602549
-
Isolated noncompaction of the myocardium
-
Jenni R, Rojas J, Oechslin E. Isolated noncompaction of the myocardium. N Engl J Med. 1999;340:966-967.
-
(1999)
N Engl J Med
, vol.340
, pp. 966-967
-
-
Jenni, R.1
Rojas, J.2
Oechslin, E.3
-
4
-
-
0344873698
-
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction
-
Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction. J Am Coll Cardiol. 2003;42:2014-2027.
-
(2003)
J Am Coll Cardiol
, vol.42
, pp. 2014-2027
-
-
Vatta, M.1
Mohapatra, B.2
Jimenez, S.3
Sanchez, X.4
Faulkner, G.5
Perles, Z.6
Sinagra, G.7
Lin, J.H.8
Vu, T.M.9
Zhou, Q.10
Bowles, K.R.11
Di Lenarda, A.12
Schimmenti, L.13
Fox, M.14
Chrisco, M.A.15
Murphy, R.T.16
McKenna, W.17
Elliott, P.18
Bowles, N.E.19
Chen, J.20
Valle, G.21
Towbin, J.A.22
more..
-
5
-
-
0035814967
-
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
-
Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001;103:1256-1263.
-
(2001)
Circulation
, vol.103
, pp. 1256-1263
-
-
Ichida, F.1
Tsubata, S.2
Bowles, K.R.3
Haneda, N.4
Uese, K.5
Miyawaki, T.6
Dreyer, W.J.7
Messina, J.8
Li, H.9
Bowles, N.E.10
Towbin, J.A.11
-
6
-
-
12244251043
-
Noncompaction Study Collaborators. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction
-
Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA; Noncompaction Study Collaborators. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab. 2002;77:319-325.
-
(2002)
Mol Genet Metab
, vol.77
, pp. 319-325
-
-
Chen, R.1
Tsuji, T.2
Ichida, F.3
Bowles, K.R.4
Yu, X.5
Watanabe, S.6
Hirono, K.7
Tsubata, S.8
Hamamichi, Y.9
Ohta, J.10
Imai, Y.11
Bowles, N.E.12
Miyawaki, T.13
Towbin, J.A.14
-
7
-
-
0041821469
-
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients
-
Sasse-Klaassen S, Gerull B, Oechslin E, Jenni R, Thierfelder L. Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. Am J Med Genet A. 2003;119:162-167.
-
(2003)
Am J Med Genet A
, vol.119
, pp. 162-167
-
-
Sasse-Klaassen, S.1
Gerull, B.2
Oechslin, E.3
Jenni, R.4
Thierfelder, L.5
-
8
-
-
2542486394
-
Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK binding protein-12
-
Kenton AB, Sanchez X, Coveler KJ, Makar KA, Jimenez S, Ichida F, Murphy RT, Elliott PM, McKenna W, Bowles NE, Towbin JA, Bowles KR. Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK binding protein-12. Mol Genet Metab. 2004;82:162-166.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 162-166
-
-
Kenton, A.B.1
Sanchez, X.2
Coveler, K.J.3
Makar, K.A.4
Jimenez, S.5
Ichida, F.6
Murphy, R.T.7
Elliott, P.M.8
McKenna, W.9
Bowles, N.E.10
Towbin, J.A.11
Bowles, K.R.12
-
9
-
-
18744433901
-
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
-
Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999;103:R39-R43.
-
(1999)
J Clin Invest
, vol.103
-
-
Mogensen, J.1
Klausen, I.C.2
Pedersen, A.K.3
Egeblad, H.4
Bross, P.5
Kruse, T.A.6
Gregersen, N.7
Hansen, P.S.8
Baandrup, U.9
Borglum, A.D.10
-
10
-
-
0034619996
-
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
-
Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000;343:1688-1696.
-
(2000)
N Engl J Med
, vol.343
, pp. 1688-1696
-
-
Kamisago, M.1
Sharma, S.D.2
DePalma, S.R.3
Solomon, S.4
Sharma, P.5
McDonough, B.6
Smoot, L.7
Mullen, M.P.8
Woolf, P.K.9
Wigle, E.D.10
Seidman, J.G.11
Seidman, C.E.12
-
11
-
-
20044396901
-
Natural history and familial characteristics of isolated left ventricular non-compaction
-
Murphy RT, Thaman R, Blanes JG, Ward D, Sevdalis E, Papra E, Kiotsekolglou A, Tome MT, Pellerin D, McKenna WJ, Elliott PM. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J. 2005;26:187-192.
-
(2005)
Eur Heart J
, vol.26
, pp. 187-192
-
-
Murphy, R.T.1
Thaman, R.2
Blanes, J.G.3
Ward, D.4
Sevdalis, E.5
Papra, E.6
Kiotsekolglou, A.7
Tome, M.T.8
Pellerin, D.9
McKenna, W.J.10
Elliott, P.M.11
-
12
-
-
33748039745
-
Different types of cardiomyopathy associated with isolated ventricular noncompaction
-
Biagini E, Ragni L, Ferlito M, Pasquale F, Lofiego C, Leone O, Rocchi G, Perugini E, Zagnoni S, Branzi A, Picchio FM, Rapezzi C. Different types of cardiomyopathy associated with isolated ventricular noncompaction. Am J Cardiol. 2006;98:821-824.
-
(2006)
Am J Cardiol
, vol.98
, pp. 821-824
-
-
Biagini, E.1
Ragni, L.2
Ferlito, M.3
Pasquale, F.4
Lofiego, C.5
Leone, O.6
Rocchi, G.7
Perugini, E.8
Zagnoni, S.9
Branzi, A.10
Picchio, F.M.11
Rapezzi, C.12
-
13
-
-
27844611696
-
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. Gene mutations in apical hypertrophic cardiomyopathy. Circulation. 2005;112:2805-2811.
-
(2005)
Circulation
, vol.112
, pp. 2805-2811
-
-
Arad, M.1
Penas-Lado, M.2
Monserrat, L.3
Maron, B.J.4
Sherrid, M.5
Ho, C.Y.6
Barr, S.7
Karim, A.8
Olson, T.M.9
Kamisago, M.10
Seidman, J.G.11
Seidman, C.E.12
-
14
-
-
35348907453
-
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular noncompaction, and septal defects
-
Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Dumont C, Cazn L, Cuesta MG, Gonzalez-Juanatey C, Jesús Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular noncompaction, and septal defects. Eur Heart J. 2007;28:1953-1961.
-
(2007)
Eur Heart J
, vol.28
, pp. 1953-1961
-
-
Monserrat, L.1
Hermida-Prieto, M.2
Fernandez, X.3
Rodriguez, I.4
Dumont, C.5
Cazn, L.6
Cuesta, M.G.7
Gonzalez-Juanatey, C.8
Jesús Peteiro, J.9
Alvarez, N.10
Penas-Lado, M.11
Castro-Beiras, A.12
-
15
-
-
0035185141
-
Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: A step towards classification as a distinct cardiomyopathy
-
Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufman PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86:666-671.
-
(2001)
Heart
, vol.86
, pp. 666-671
-
-
Jenni, R.1
Oechslin, E.2
Schneider, J.3
Attenhofer Jost, C.4
Kaufman, P.A.5
-
16
-
-
0022555839
-
Splicing of messenger RNA precursors
-
Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA. Splicing of messenger RNA precursors. Annu Rev Biochem. 1986;55:1119-1150.
-
(1986)
Annu Rev Biochem
, vol.55
, pp. 1119-1150
-
-
Padgett, R.A.1
Grabowski, P.J.2
Konarska, M.M.3
Seiler, S.4
Sharp, P.A.5
-
17
-
-
0033799445
-
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. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2000;32:1687-1694.
-
(2000)
J Mol Cell Cardiol
, vol.32
, pp. 1687-1694
-
-
Olson, T.M.1
Doan, T.P.2
Kishimoto, N.Y.3
Whitby, F.G.4
Ackerman, M.J.5
Fananapazir, L.6
-
18
-
-
15844400653
-
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
-
Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet. 1996;13:63-69.
-
(1996)
Nat Genet
, vol.13
, pp. 63-69
-
-
Poetter, K.1
Jiang, H.2
Hassanzadeh, S.3
Master, S.R.4
Chang, A.5
Dalakas, M.C.6
Rayment, I.7
Sellers, J.R.8
Fananapazir, L.9
Epstein, N.D.10
-
19
-
-
0037630018
-
EUROGENE Heart Failure Project. Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
-
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Abdelaziz Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107:2227-2232.
-
(2003)
Circulation
, vol.107
, pp. 2227-2232
-
-
Richard, P.1
Charron, P.2
Carrier, L.3
Ledeuil, C.4
Cheav, T.5
Pichereau, C.6
Abdelaziz Benaiche, A.7
Isnard, R.8
Dubourg, O.9
Burban, M.10
Gueffet, J.P.11
Millaire, A.12
Desnos, M.13
Schwartz, K.14
Hainque, B.15
Komajda, M.16
-
20
-
-
17444407002
-
Mutation screening in dilated cardiomyopathy: Prominent role of the beta myosin heavy chain gene
-
Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005;26:794-803.
-
(2005)
Eur Heart J
, vol.26
, pp. 794-803
-
-
Villard, E.1
Duboscq-Bidot, L.2
Charron, P.3
Benaiche, A.4
Conraads, V.5
Sylvius, N.6
Komajda, M.7
-
21
-
-
0029024879
-
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
-
Rayment I, Holden HM, Sellers JR, Fananapazir L, Epstein ND. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1995;92:3864-3868.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 3864-3868
-
-
Rayment, I.1
Holden, H.M.2
Sellers, J.R.3
Fananapazir, L.4
Epstein, N.D.5
-
22
-
-
34249844500
-
Mechanism of the myosin catalyzed hydrolysis of ATP as rationalized by molecular modeling
-
Grigorenko BL, Rogov AV, Topol IA, Burt SK, Martinez HM, Nemukhin AV. Mechanism of the myosin catalyzed hydrolysis of ATP as rationalized by molecular modeling. Proc Natl Acad Sci U S A. 2007;104:7057-7061.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 7057-7061
-
-
Grigorenko, B.L.1
Rogov, A.V.2
Topol, I.A.3
Burt, S.K.4
Martinez, H.M.5
Nemukhin, A.V.6
-
23
-
-
33745190034
-
Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy
-
Bookwalter CS, Trybus KM. Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. J Biol Chem. 2006;281:16777-16784.
-
(2006)
J Biol Chem
, vol.281
, pp. 16777-16784
-
-
Bookwalter, C.S.1
Trybus, K.M.2
-
24
-
-
0037414799
-
Folding and function of the troponin tail domain
-
Hinkle A, Tobacman LS. Folding and function of the troponin tail domain. J Biol Chem. 2003;278:506-513.
-
(2003)
J Biol Chem
, vol.278
, pp. 506-513
-
-
Hinkle, A.1
Tobacman, L.S.2
-
25
-
-
38349086961
-
Classification of the cardiomyopathies: A position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
-
Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Duborg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008;29:270-276.
-
(2008)
Eur Heart J
, vol.29
, pp. 270-276
-
-
Elliott, P.1
Andersson, B.2
Arbustini, E.3
Bilinska, Z.4
Cecchi, F.5
Charron, P.6
Duborg, O.7
Kühl, U.8
Maisch, B.9
McKenna, W.J.10
Monserrat, L.11
Pankuweit, S.12
Rapezzi, C.13
Seferovic, P.14
Tavazzi, L.15
Keren, A.16
-
26
-
-
0037155048
-
Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy
-
Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, Ostman-Smith I, Watkins H. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res. 2002;90:263-269.
-
(2002)
Circ Res
, vol.90
, pp. 263-269
-
-
Blair, E.1
Redwood, C.2
de Jesus Oliveira, M.3
Moolman-Smook, J.C.4
Brink, P.5
Corfield, V.A.6
Ostman-Smith, I.7
Watkins, H.8
|