-
1
-
-
0028347574
-
Inherited cardiomyopathies
-
Kelly DP, Strauss AW. Inherited cardiomyopathies. N Engl J Med. 1994;330:913-919.
-
(1994)
N Engl J Med
, vol.330
, pp. 913-919
-
-
Kelly, D.P.1
Strauss, A.W.2
-
3
-
-
0032729717
-
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
-
Bonnet D, Martin D, Pascale De L, et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation. 1999;100:2248-2253.
-
(1999)
Circulation
, vol.100
, pp. 2248-2253
-
-
Bonnet, D.1
Martin, D.2
Pascale, D.L.3
-
4
-
-
33646518622
-
-
Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006;142:77-85.
-
Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006;142:77-85.
-
-
-
-
5
-
-
0141788341
-
Adult presentation of MCAD deficiency revealed by coma and severe arrythmias
-
Feillet F, Steinmann G, Vianey-Saban C, et al. Adult presentation of MCAD deficiency revealed by coma and severe arrythmias. Intensive Care Med. 2003;29:1594-1597.
-
(2003)
Intensive Care Med
, vol.29
, pp. 1594-1597
-
-
Feillet, F.1
Steinmann, G.2
Vianey-Saban, C.3
-
6
-
-
29544442308
-
Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome
-
Spencer CT, Byrne BJ, Gewitz MH, et al. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol. 2005;26:632-637.
-
(2005)
Pediatr Cardiol
, vol.26
, pp. 632-637
-
-
Spencer, C.T.1
Byrne, B.J.2
Gewitz, M.H.3
-
7
-
-
0033504031
-
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome
-
Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr. 1999;135:311-315.
-
(1999)
J Pediatr
, vol.135
, pp. 311-315
-
-
Cantlay, A.M.1
Shokrollahi, K.2
Allen, J.T.3
Lunt, P.W.4
Newbury-Ecob, R.A.5
Steward, C.G.6
-
8
-
-
27644437287
-
Tazl, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: Implications for Barth Syndrome
-
Brandner K, Mick DU, Frazier AE, Taylor RD, Meisinger C, Rehling P. Tazl, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome. Mol Biol Cell. 2005;16:5202-5214.
-
(2005)
Mol Biol Cell
, vol.16
, pp. 5202-5214
-
-
Brandner, K.1
Mick, D.U.2
Frazier, A.E.3
Taylor, R.D.4
Meisinger, C.5
Rehling, P.6
-
10
-
-
0036167225
-
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
-
Arad M, Benson DW, Perez-Atayde AR, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 2002;109:357-362.
-
(2002)
J Clin Invest
, vol.109
, pp. 357-362
-
-
Arad, M.1
Benson, D.W.2
Perez-Atayde, A.R.3
-
11
-
-
0029143611
-
Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
-
MacRae CA, Ghaisas N, Kass S, et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest. 1995;96:1216-1220.
-
(1995)
J Clin Invest
, vol.96
, pp. 1216-1220
-
-
MacRae, C.A.1
Ghaisas, N.2
Kass, S.3
-
12
-
-
19944434362
-
Glycogen storage diseases presenting as hypertrophic cardiomyopathy
-
Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005;352:362-372.
-
(2005)
N Engl J Med
, vol.352
, pp. 362-372
-
-
Arad, M.1
Maron, B.J.2
Gorham, J.M.3
-
13
-
-
4544344055
-
Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
-
Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004;110:1047-1053.
-
(2004)
Circulation
, vol.110
, pp. 1047-1053
-
-
Chimenti, C.1
Pieroni, M.2
Morgante, E.3
-
14
-
-
24944513802
-
Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease
-
Shah JS, Hughes DA, Sachdev B, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol. 2005;96:842-846.
-
(2005)
Am J Cardiol
, vol.96
, pp. 842-846
-
-
Shah, J.S.1
Hughes, D.A.2
Sachdev, B.3
-
15
-
-
0028918471
-
Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects
-
Anan R, Nakagawa M, Miyata M, et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation. 1995;91:955-961.
-
(1995)
Circulation
, vol.91
, pp. 955-961
-
-
Anan, R.1
Nakagawa, M.2
Miyata, M.3
-
16
-
-
13444252580
-
Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors
-
van Herpen RE, Oude Ophuis RJ, Wijers M, et al. Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors. Mol Cell Biol. 2005;25:1402-1414.
-
(2005)
Mol Cell Biol
, vol.25
, pp. 1402-1414
-
-
van Herpen, R.E.1
Oude Ophuis, R.J.2
Wijers, M.3
-
17
-
-
0038163807
-
Hemodynamics is a key epigenetic factor in development of the cardiac conduction system
-
Reckova M, Rosengarten C, deAlmeida A, et al. Hemodynamics is a key epigenetic factor in development of the cardiac conduction system. Circ Res. 2003;93:77-85.
-
(2003)
Circ Res
, vol.93
, pp. 77-85
-
-
Reckova, M.1
Rosengarten, C.2
deAlmeida, A.3
-
18
-
-
0037782349
-
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy
-
Arad M, Moskowitz IP, Patel VV, et al. Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation. 2003;107:2850-2856.
-
(2003)
Circulation
, vol.107
, pp. 2850-2856
-
-
Arad, M.1
Moskowitz, I.P.2
Patel, V.V.3
-
19
-
-
33646570214
-
Fabry's disease cardiomyopathy: Echocardiographic detection of endomyocardial glycosphingolipid compartmentalization
-
Pieroni M, Chimenti C, De Cobelli F, et al. Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol. 2006;47:1663-1671.
-
(2006)
J Am Coll Cardiol
, vol.47
, pp. 1663-1671
-
-
Pieroni, M.1
Chimenti, C.2
De Cobelli, F.3
-
21
-
-
33646584876
-
Ischemia opens neuronal gap junction hemichannels
-
Thompson RJ, Zhou N, MacVicar BA. Ischemia opens neuronal gap junction hemichannels. Science. 2006;312:924-927.
-
(2006)
Science
, vol.312
, pp. 924-927
-
-
Thompson, R.J.1
Zhou, N.2
MacVicar, B.A.3
-
22
-
-
33644851751
-
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism
-
Anderson CL, Delisle BP, Anson BD, et al. Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006;113:365-373.
-
(2006)
Circulation
, vol.113
, pp. 365-373
-
-
Anderson, C.L.1
Delisle, B.P.2
Anson, B.D.3
-
23
-
-
0026721041
-
Long-chain fatty acids activate calcium channels in ventricular myocytes
-
Huang JM, Xian H, Bacaner M. Long-chain fatty acids activate calcium channels in ventricular myocytes. Proc Natl Acad Sci U S A. 1992;89:6452-6456.
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 6452-6456
-
-
Huang, J.M.1
Xian, H.2
Bacaner, M.3
|