-
2
-
-
0029969701
-
Left ventricular non-compaction in a patient with becker's muscular dystrophy
-
Stöllberger C, Finsterer J, Blazek G, Bittner RE. Left ventricular non-compaction in a patient with becker's muscular dystrophy. Heart 1996; 76: 380.
-
(1996)
Heart
, vol.76
, pp. 380
-
-
Stöllberger, C.1
Finsterer, J.2
Blazek, G.3
Bittner, R.E.4
-
3
-
-
33744828270
-
Neuromuscular implications in left ventricular hypertrabeculation/noncompaction
-
Finsterer J, Stöllberger C, Blazek G. Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. Int J Cardiol 2006; 110: 288-300.
-
(2006)
Int J Cardiol
, vol.110
, pp. 288-300
-
-
Finsterer, J.1
Stöllberger, C.2
Blazek, G.3
-
4
-
-
0345369283
-
Isolated left ventricular abnormal trabeculation in adults is associated with neuromuscular disorders
-
Stöllberger C, Finsterer J, Valentin A, Blazek G, Tscholakoff D. Isolated left ventricular abnormal trabeculation in adults is associated with neuromuscular disorders. Clin Cardiol 1999; 22: 119-23.
-
(1999)
Clin Cardiol
, vol.22
, pp. 119-123
-
-
Stöllberger, C.1
Finsterer, J.2
Valentin, A.3
Blazek, G.4
Tscholakoff, D.5
-
5
-
-
0033662798
-
Isolated left ventricular abnormal trabeculation is a cardiac manifestation of neuromuscular disorders
-
Stöllberger C, Finsterer J, Blazek G. Isolated left ventricular abnormal trabeculation is a cardiac manifestation of neuromuscular disorders. Cardiology 2000; 94: 72-6.
-
(2000)
Cardiology
, vol.94
, pp. 72-76
-
-
Stöllberger, C.1
Finsterer, J.2
Blazek, G.3
-
6
-
-
79960052159
-
Neuromuscular and cardiac comorbidity determines survival in 140 patients with left ventricular hypertrabeculation/noncompaction
-
(in press)
-
Stöllberger C, Blazek G, Wegner C, Winkler-Dworak M, Finsterer J. Neuromuscular and cardiac comorbidity determines survival in 140 patients with left ventricular hypertrabeculation/noncompaction. Int J Cardiol 2010; (in press).
-
Int J Cardiol 2010
-
-
Stöllberger, C.1
Blazek, G.2
Wegner, C.3
Winkler-Dworak, M.4
Finsterer, J.5
-
7
-
-
0037108211
-
Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders
-
Stöllberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 2002; 90: 899-902
-
(2002)
Am J Cardiol
, vol.90
, pp. 899-902
-
-
Stöllberger, C.1
Finsterer, J.2
Blazek, G.3
-
8
-
-
0030774767
-
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
-
Bleyl SB, Mumford BR, Thompson V, et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 1997; 61: 868-72
-
(1997)
Am J Hum Genet
, vol.61
, pp. 868-872
-
-
Bleyl, S.B.1
Mumford, B.R.2
Thompson, V.3
-
9
-
-
15644381412
-
Hypertrabeculated left ventricle in mitochondriopathy
-
Finsterer J, Stöllberger C. Hypertrabeculated left ventricle in mitochondriopathy. Heart 1998; 80: 632
-
(1998)
Heart
, vol.80
, pp. 632
-
-
Finsterer, J.1
Stöllberger, C.2
-
10
-
-
0035814967
-
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
-
Ichida F, Tsubata S, Bowles KR, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 2001; 103: 1256-63
-
(2001)
Circulation
, vol.103
, pp. 1256-1263
-
-
Ichida, F.1
Tsubata, S.2
Bowles, K.R.3
-
11
-
-
0034959387
-
Left ventricular hypertrabeculation in myotonic dystrophy type 1
-
Finsterer J, Stöllberger C, Wegmann R, Jarius C, Janssen B. Left ventricular hypertrabeculation in myotonic dystrophy type 1. Herz 2001; 26: 287-90
-
(2001)
Herz
, vol.26
, pp. 287-290
-
-
Finsterer, J.1
Stöllberger, C.2
Wegmann, R.3
Jarius, C.4
Janssen, B.5
-
12
-
-
0344873698
-
Mutations in cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
-
Vatta M, Mohapatra B, Jimenez S, et al. Mutations in cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 2003; 42: 2014-27
-
(2003)
J Am Coll Cardiol
, vol.42
, pp. 2014-2027
-
-
Vatta, M.1
Mohapatra, B.2
Jimenez, S.3
-
13
-
-
3042519038
-
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations
-
Hermida-Prieto M, Monserrat L, Castro-Beiras A, et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol 2004; 94: 50-4
-
(2004)
Am J Cardiol
, vol.94
, pp. 50-54
-
-
Hermida-Prieto, M.1
Monserrat, L.2
Castro-Beiras, A.3
-
14
-
-
23644452964
-
Left ventricular hypertrabeculation/noncompaction as a cardiac manifestation of Duchenne muscular dystrophy under non-invasive positive-pressure ventilation
-
Finsterer J, Gelpi E, Stöllberger C. Left ventricular hypertrabeculation/noncompaction as a cardiac manifestation of Duchenne muscular dystrophy under non-invasive positive-pressure ventilation. Acta Cardiol 2005; 60: 445-8
-
(2005)
Acta Cardiol
, vol.60
, pp. 445-448
-
-
Finsterer, J.1
Gelpi, E.2
Stöllberger, C.3
-
15
-
-
4043152735
-
Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction
-
Finsterer J, Schoser B, Stöllberger C. Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction. Acta Cardiol 2004; 59: 453-6
-
(2004)
Acta Cardiol
, vol.59
, pp. 453-456
-
-
Finsterer, J.1
Schoser, B.2
Stöllberger, C.3
-
16
-
-
33645473866
-
Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A
-
Corrado G, Checcarelli N, Santarone M, Stollberger C, Finsterer J. Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. Cardiology 2006; 105: 142-5
-
(2006)
Cardiology
, vol.105
, pp. 142-145
-
-
Corrado, G.1
Checcarelli, N.2
Santarone, M.3
Stollberger, C.4
Finsterer, J.5
-
17
-
-
42649101980
-
Left ventricular non-compaction in a patient with myotonic dystrophy type 2
-
Wahbi K, Meune C, Bassez G, et al. Left ventricular non-compaction in a patient with myotonic dystrophy type 2. Neuromuscul Disord 2008; 18: 331-3
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 331-333
-
-
Wahbi, K.1
Meune, C.2
Bassez, G.3
-
18
-
-
79960188921
-
Left ventricular hypertrabeculation/noncompaction in hereditary inclusion body myopathy
-
(in press)
-
Finsterer J, Stöllberger C, Höftberger R. Left ventricular hypertrabeculation/noncompaction in hereditary inclusion body myopathy. Int J Cardiol 2009; (in press)
-
Int J Cardiol 2009
-
-
Finsterer, J.1
Stöllberger, C.2
Höftberger, R.3
-
19
-
-
0030820393
-
Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals
-
Bleyl SB, Mumford BR, Brown-Harrison MC, et al. Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet 1997; 72: 257-65
-
(1997)
Am J Med Genet
, vol.72
, pp. 257-265
-
-
Bleyl, S.B.1
Mumford, B.R.2
Brown-Harrison, M.C.3
-
20
-
-
5644291815
-
Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathy
-
Finsterer J, Stöllberger C, Schubert B. Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathy. Cardiology 2004; 102: 228-30
-
(2004)
Cardiology
, vol.102
, pp. 228-230
-
-
Finsterer, J.1
Stöllberger, C.2
Schubert, B.3
-
22
-
-
70749104611
-
Acquired left ventricular hypertrabeculation/noncompaction in myotonic dystrophy type 1
-
Finsterer J, Stöllberger C, Wegmann R, Janssen LA. Acquired left ventricular hypertrabeculation/noncompaction in myotonic dystrophy type 1. Int J Cardiol 2009; 137: 310-3
-
(2009)
Int J Cardiol
, vol.137
, pp. 310-313
-
-
Finsterer, J.1
Stöllberger, C.2
Wegmann, R.3
Janssen, L.A.4
-
23
-
-
41549135595
-
Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders
-
Finsterer J, Stöllberger C, Schubert B. Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders. Scand Cardiovasc J 2008; 42: 25-30
-
(2008)
Scand Cardiovasc J
, vol.42
, pp. 25-30
-
-
Finsterer, J.1
Stöllberger, C.2
Schubert, B.3
-
24
-
-
67349171842
-
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction
-
Finsterer J. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 2009; 30: 659-81
-
(2009)
Pediatr Cardiol
, vol.30
, pp. 659-681
-
-
Finsterer, J.1
-
25
-
-
39049190356
-
Barth syndrome presenting with acute metabolic decompensation in the neonatal period
-
Donati MA, Malvagia S, Pasquini E, et al. Barth syndrome presenting with acute metabolic decompensation in the neonatal period. J Inherit Metab Dis 2006; 29: 684
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 684
-
-
Donati, M.A.1
Malvagia, S.2
Pasquini, E.3
-
26
-
-
0035451482
-
Preliminary evidence for a cognitive phenotype in Barth syndrome
-
Mazzocco MM, Kelley RI. Preliminary evidence for a cognitive phenotype in Barth syndrome. Am J Med Genet 2001; 102: 372-8
-
(2001)
Am J Med Genet
, vol.102
, pp. 372-378
-
-
Mazzocco, M.M.1
Kelley, R.I.2
-
27
-
-
0344844423
-
Clinical characterization of left ventricular noncompaction in children: A relatively common form of cardiomyopathy
-
Pignatelli RH, McMahon CJ, Dreyer WJ, et al. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation 2003; 108: 2672-8
-
(2003)
Circulation
, vol.108
, pp. 2672-2678
-
-
Pignatelli, R.H.1
McMahon, C.J.2
Dreyer, W.J.3
-
28
-
-
2142765298
-
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update
-
Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet 2004; 126A: 349-54
-
(2004)
Am J Med Genet
, vol.126 A
, pp. 349-354
-
-
Barth, P.G.1
Valianpour, F.2
Bowen, V.M.3
-
30
-
-
2342480420
-
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
-
Kuijpers TW, Maianski NA, Tool AT, et al. Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood 2004; 103: 3915-23
-
(2004)
Blood
, vol.103
, pp. 3915-3923
-
-
Kuijpers, T.W.1
Maianski, N.A.2
Tool, A.T.3
-
31
-
-
46149090364
-
Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review
-
Yen TY, Hwu WL, Chien YH, et al. Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. Eur J Pediatr 2008; 167: 941-4
-
(2008)
Eur J Pediatr
, vol.167
, pp. 941-944
-
-
Yen, T.Y.1
Hwu, W.L.2
Chien, Y.H.3
-
32
-
-
34247876043
-
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes
-
Marziliano N, Mannarino S, Nespoli L, et al. Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. Am J Med Genet 2007; 143A: 907-15
-
(2007)
Am J Med Genet
, vol.143 A
, pp. 907-915
-
-
Marziliano, N.1
Mannarino, S.2
Nespoli, L.3
-
33
-
-
12244251043
-
Noncompaction study collaborators. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction
-
Chen R, Tsuji T, Ichida F, et al. Noncompaction study collaborators. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab 2002; 77: 319-25
-
(2002)
Mol Genet Metab
, vol.77
, pp. 319-325
-
-
Chen, R.1
Tsuji, T.2
Ichida, F.3
-
34
-
-
2542486394
-
Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alphadystrobrevin and FK Binding Protein-12
-
Kenton AB, Sanchez X, Coveler KJ, et al. Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alphadystrobrevin and FK Binding Protein-12. Mol Genet Metab 2004; 82: 162-6
-
(2004)
Mol Genet Metab
, vol.82
, pp. 162-166
-
-
Kenton, A.B.1
Sanchez, X.2
Coveler, K.J.3
-
35
-
-
14244259670
-
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
-
Scaglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; 114: 925-31
-
(2004)
Pediatrics
, vol.114
, pp. 925-931
-
-
Scaglia, F.1
Towbin, J.A.2
Craigen, W.J.3
-
36
-
-
33748424435
-
Cardiac and clinical phenol type in Barth syndrome
-
Spencer CT, Bryant RM, Day J, et al. Cardiac and clinical phenol type in Barth syndrome. Pediatrics 2006; 118: e337-46
-
(2006)
Pediatrics
, vol.118
-
-
Spencer, C.T.1
Bryant, R.M.2
Day, J.3
-
37
-
-
33646058879
-
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity
-
Xing Y, Ichida F, Matsuoka T, et al. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol Genet Metab 2006; 88: 71-7
-
(2006)
Mol Genet Metab
, vol.88
, pp. 71-77
-
-
Xing, Y.1
Ichida, F.2
Matsuoka, T.3
-
38
-
-
33947285487
-
Cardiac manifestations in oxidative phosphorylation disorders of childhood
-
Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr 2007; 150: 407-11
-
(2007)
J Pediatr
, vol.150
, pp. 407-411
-
-
Yaplito-Lee, J.1
Weintraub, R.2
Jamsen, K.3
Chow, C.W.4
Thorburn, D.R.5
Boneh, A.6
-
39
-
-
65349094568
-
Left ventricular non-compaction: A new mutation predisposing to reverse remodeling?
-
Cortez-Dias N, Varela MG, Sargento L, et al. Left ventricular non-compaction: a new mutation predisposing to reverse remodeling? Rev Port Cardiol 2009; 28: 185-94
-
(2009)
Rev Port Cardiol
, vol.28
, pp. 185-194
-
-
Cortez-Dias, N.1
Varela, M.G.2
Sargento, L.3
-
40
-
-
37849051673
-
Diagnosis of left-ventricular non-compaction in patients with left-ventricular systolic dysfunction: Time for a reappraisal of diagnostic criteria?
-
Kohli SK, Pantazis AA, Shah JS, et al. Diagnosis of left-ventricular non-compaction in patients with left-ventricular systolic dysfunction: time for a reappraisal of diagnostic criteria? Eur Heart J 2008; 29: 89-95
-
(2008)
Eur Heart J
, vol.29
, pp. 89-95
-
-
Kohli, S.K.1
Pantazis, A.A.2
Shah, J.S.3
-
41
-
-
77951961282
-
Paction study collaborators. Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction
-
(in press)
-
Chang B, Momoi N, Shan L, et al. Noncompaction study collaborators. Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. Mol Genet Metab 2010; (in press)
-
Mol Genetetab 2010
-
-
Chang, B.1
Momoi, N.2
Sha, L.3
-
42
-
-
1642341366
-
Mitochondriopathies
-
Finsterer J. Mitochondriopathies. Eur J Neurol 2004; 11: 163-86
-
(2004)
Eur J Neurol
, vol.11
, pp. 163-186
-
-
Finsterer, J.1
-
43
-
-
33645581765
-
Overview on visceral manifestations of mitochondrial disorders
-
Finsterer J. Overview on visceral manifestations of mitochondrial disorders. Neth J Med 2006; 64: 61-71
-
(2006)
Neth J Med
, vol.64
, pp. 61-71
-
-
Finsterer, J.1
-
44
-
-
70450206923
-
EFNS guidelines on the molecular diagnosis of mitochondrial disorders
-
Finsterer J, Harbo HF, Baets J, et al. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol 2009; 16: 1255-64
-
(2009)
Eur J Neurol
, vol.16
, pp. 1255-1264
-
-
Finsterer, J.1
Harbo, H.F.2
Baets, J.3
-
45
-
-
37349104924
-
Noncompaction and endocarditis in suspected mitochondrial disorder
-
Finsterer J, Stöllberger C, Feichtinger H. Noncompaction and endocarditis in suspected mitochondrial disorder. Int J Cardiol 2008; 123: e45-7
-
(2008)
Int J Cardiol
, vol.123
-
-
Finsterer, J.1
Stöllberger, C.2
Feichtinger, H.3
-
47
-
-
33845329841
-
Postpartum syncope and noncompaction in suspected encephalomyopathy
-
Finsterer J, Stöllberger C. Postpartum syncope and noncompaction in suspected encephalomyopathy. South Med J 2006; 99: 1304-5
-
(2006)
South Med J
, vol.99
, pp. 1304-1305
-
-
Finsterer, J.1
Stöllberger, C.2
-
48
-
-
33745100846
-
Successful heart failure therapy in mitochondrial disorder with noncompaction cardiomyopathy
-
Finsterer J, Stöllberger C, Gelpi E. Successful heart failure therapy in mitochondrial disorder with noncompaction cardiomyopathy. Int J Cardiovasc Imaging 2006; 22: 393-8
-
(2006)
Int J Cardiovasc Imaging
, vol.22
, pp. 393-398
-
-
Finsterer, J.1
Stöllberger, C.2
Gelpi, E.3
-
50
-
-
15644381412
-
Hypertrabeculated left ventricle in mitochondriopathy
-
Finsterer J, Stöllberger C. Hypertrabeculated left ventricle in mitochondriopathy. Heart 1998; 80: 632
-
(1998)
Heart
, vol.80
, pp. 632
-
-
Finsterer, J.1
Stöllberger, C.2
-
51
-
-
0033919681
-
Complex mitochondriopathy associated with 4 mtDNA transitions
-
Finsterer J, Bittner R, Bodingbauer M, Eichberger H, Stöllberger C, Blazek G. Complex mitochondriopathy associated with 4 mtDNA transitions. Eur Neurol 2000; 44: 37-41
-
(2000)
Eur Neurol
, vol.44
, pp. 37-41
-
-
Finsterer, J.1
Bittner, R.2
Bodingbauer, M.3
Eichberger, H.4
Stöllberger, C.5
Blazek, G.6
-
52
-
-
0034998813
-
Wolff-Parkinson White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy
-
Finsterer J, Stöllberger C, Kopsa W, Jaksch M. Wolff-Parkinson White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy. Can J Cardiol 2001; 17: 464-6
-
(2001)
Can J Cardiol
, vol.17
, pp. 464-466
-
-
Finsterer, J.1
Stöllberger, C.2
Kopsa, W.3
Jaksch, M.4
-
53
-
-
0037235166
-
LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient
-
Finsterer J, Stöllberger C. LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient. Eur Neurol 2003; 49: 186-7
-
(2003)
Eur Neurol
, vol.49
, pp. 186-187
-
-
Finsterer, J.1
Stöllberger, C.2
-
54
-
-
66249119710
-
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
-
Ware SM, El-Hassan N, Kahler SG, et al. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet 2009; 46: 308-14
-
(2009)
J Med Genet
, vol.46
, pp. 308-314
-
-
Ware, S.M.1
El-Hassan, N.2
Kahler, S.G.3
-
55
-
-
77952885274
-
Left ventricular noncompaction is associated with mutations in the mitochondrial genome
-
Tang S, Batra A, Zhang Y, Ebenroth ES, Huang T. Left ventricular noncompaction is associated with mutations in the mitochondrial genome. Mitochondrion 2010; 10(4): 350-7
-
(2010)
Mitochondrion
, vol.10
, Issue.4
, pp. 350-357
-
-
Tang, S.1
Batra, A.2
Zhang, Y.3
Ebenroth, E.S.4
Huang, T.5
-
56
-
-
34250889413
-
Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction
-
Davili Z, Johar S, Hughes C, Kveselis D, Hoo J. Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction. Eur J Pediatr 2007; 166: 867-70
-
(2007)
Eur J Pediatr
, vol.166
, pp. 867-870
-
-
Davili, Z.1
Johar, S.2
Hughes, C.3
Kveselis, D.4
Hoo, J.5
-
57
-
-
0037108211
-
Left ventricular hypertrabeculation/ noncompaction and association with additional cardiac abnormalities and neuromuscular disorders
-
Stöllberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/ noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 2002; 90: 899-902
-
(2002)
Am J Cardiol
, vol.90
, pp. 899-902
-
-
Stöllberger, C.1
Finsterer, J.2
Blazek, G.3
-
58
-
-
67049169360
-
Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant
-
Edston E, Perskvist N. Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant. Int J Legal Med 2009; 123(1): 47-53
-
(2009)
Int J Legal Med
, vol.123
, Issue.1
, pp. 47-53
-
-
Edston, E.1
Perskvist, N.2
-
59
-
-
44449096162
-
Histiocytoid cardiomyopathy: A mitochondrial disorder
-
Finsterer J. Histiocytoid cardiomyopathy: a mitochondrial disorder. Clin Cardiol 2008; 31: 225-7
-
(2008)
Clin Cardiol
, vol.31
, pp. 225-227
-
-
Finsterer, J.1
-
60
-
-
75149193878
-
Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease
-
Limongelli G, Tome-Esteban M, Dejthevaporn C, Rahman S, Hanna MG, Elliott PM. Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease. Eur J Heart Fail 2010; 12: 114-21
-
(2010)
Eur J Heart Fail
, vol.12
, pp. 114-121
-
-
Limongelli, G.1
Tome-Esteban, M.2
Dejthevaporn, C.3
Rahman, S.4
Hanna, M.G.5
Elliott, P.M.6
-
61
-
-
13144260646
-
Mutations in ZASP define a novel form of muscular dystrophy in humans
-
Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005; 57: 269-76
-
(2005)
Ann Neurol
, vol.57
, pp. 269-276
-
-
Selcen, D.1
Engel, A.G.2
-
62
-
-
10744231114
-
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C
-
Arimura T, Hayashi T, Terada H, et al. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem 2004; 279: 6746-52
-
(2004)
J Biol Chem
, vol.279
, pp. 6746-6752
-
-
Arimura, T.1
Hayashi, T.2
Terada, H.3
-
63
-
-
84924110084
-
Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy
-
Zhou Q, Chu PH, Huang C, et al. Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. J Cell Biol 2001; 155: 605-12
-
(2001)
J Cell Biol
, vol.155
, pp. 605-612
-
-
Zhou, Q.1
Chu, P.H.2
Huang, C.3
-
65
-
-
34648839886
-
Myotonic dystrophy: RNA-mediated muscle disease
-
Wheeler TM, Thornton CA. Myotonic dystrophy: RNA-mediated muscle disease. Curr Opin Neurol 2007; 20: 572-6
-
(2007)
Curr Opin Neurol
, vol.20
, pp. 572-576
-
-
Wheeler, T.M.1
Thornton, C.A.2
-
66
-
-
21744448369
-
Noncompaction in myotonic dystrophy type 1 on cardiac MRI
-
Finsterer J, Stölberger C, Kopsa W. Noncompaction in myotonic dystrophy type 1 on cardiac MRI. Cardiology 2005; 103: 167-8
-
(2005)
Cardiology
, vol.103
, pp. 167-168
-
-
Finsterer, J.1
Stölberger, C.2
Kopsa, W.3
-
67
-
-
36849062586
-
Cardiac involveent in type 1 myotonic dystrophy
-
Sá MI, Cabral S, Costa PD, et al. Cardiac involveent in type 1 myotonic dystrophy. Rev Port Cardiol 2007; 26: 829-40
-
(2007)
Rev Port Cardiol
, vol.26
, pp. 829-840
-
-
Sá, M.I.1
Cabral, S.2
Costa, P.D.3
-
68
-
-
0042665465
-
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy
-
Jones KJ, Compton AG, Yang N, et al. Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscul Disord 2003; 13: 456-67
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 456-467
-
-
Jones, K.J.1
Compton, A.G.2
Yang, N.3
-
69
-
-
17744398717
-
Association of alpha dystrobrevin with reorganizing tight junctions
-
Sjö A, Magnusson KE, Peterson KH. Association of alpha dystrobrevin with reorganizing tight junctions. J Membr Biol 2005; 203: 21-30
-
(2005)
J Membr Biol
, vol.203
, pp. 21-30
-
-
Sjö, A.1
Magnusson, K.E.2
Peterson, K.H.3
-
70
-
-
21344454463
-
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
-
Benedetti S, Bertini E, Iannaccone S, et al. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry 2005; 76: 1019-21
-
(2005)
J Neurol Neurosurg Psychiatry
, vol.76
, pp. 1019-1021
-
-
Benedetti, S.1
Bertini, E.2
Iannaccone, S.3
-
71
-
-
28344440157
-
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy
-
Filesi I, Gullotta F, Lattanzi G, et al. Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics 2005; 23: 150-8
-
(2005)
Physiol Genomics
, vol.23
, pp. 150-158
-
-
Filesi, I.1
Gullotta, F.2
Lattanzi, G.3
-
72
-
-
44849116735
-
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C
-
Rankin J, Auer-Grumbach M, Bagg W, et al. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet 2008; 146A: 1530-42
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 1530-1542
-
-
Rankin, J.1
Auer-Grumbach, M.2
Bagg, W.3
-
73
-
-
42949086409
-
Laminins and their roles in mammals
-
Miner JH. Laminins and their roles in mammals. Microsc Res Technol 2008; 71: 349-56
-
(2008)
Microsc Res Technol
, vol.71
, pp. 349-356
-
-
Miner, J.H.1
-
74
-
-
3042519038
-
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations
-
Hermida-Prieto M, Monserrat L, Castro-Beiras A, et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol 2004; 94: 50-4
-
(2004)
Am J Cardiol
, vol.94
, pp. 50-54
-
-
Hermida-Prieto, M.1
Monserrat, L.2
Castro-Beiras, A.3
-
75
-
-
0035178452
-
Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker's muscular dystrophy
-
Finsterer J, Stöllberger C. Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker's muscular dystrophy. Herz 2001; 26: 477-81
-
(2001)
Herz
, vol.26
, pp. 477-481
-
-
Finsterer, J.1
Stöllberger, C.2
-
76
-
-
33646576489
-
Noncompaction in Duchenne muscular dystrophy: Frustrated attempt to create a compensatory left ventricle?
-
Finsterer J, Stöllberger C, Feichtinger H. Noncompaction in Duchenne muscular dystrophy: frustrated attempt to create a compensatory left ventricle? Cardiology 2006; 105: 223-5
-
(2006)
Cardiology
, vol.105
, pp. 223-225
-
-
Finsterer, J.1
Stöllberger, C.2
Feichtinger, H.3
-
77
-
-
78649971967
-
-
2006 Sep 21 updated 2007 Apr 23]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews Internet]. Seattle (WA): University of Washington, Seattle, Available from
-
Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. 2006 Sep 21 updated 2007 Apr 23]. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http: //www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=myot onic-d2
-
(1993)
Myotonic Dystrophy Type 2
-
-
Dalton, J.C.1
Ranum, L.P.W.2
Day, J.W.3
-
78
-
-
0034308229
-
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: Case report in a Japanese patient
-
Abe M, Higuchi I, Morisaki H, Morisaki T, Osame M. Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. Neuromuscul Disord 2000; 10: 472-7
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 472-477
-
-
Abe, M.1
Higuchi, I.2
Morisaki, H.3
Morisaki, T.4
Osame, M.5
-
79
-
-
0034048904
-
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation
-
Sabina RL. Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurol Clin 2000; 18: 185-94
-
(2000)
Neurol Clin
, vol.18
, pp. 185-194
-
-
Sabina, R.L.1
-
80
-
-
0032949513
-
Primary, secondary, and coincidental types of myoadenylate deaminase deficiency
-
Fishbein WN. Primary, secondary, and coincidental types of myoadenylate deaminase deficiency. Ann Neurol 1999; 45: 547-8
-
(1999)
Ann Neurol
, vol.45
, pp. 547-548
-
-
Fishbein, W.N.1
-
81
-
-
0242270694
-
Associations between cardiorespiratory responses to exercise and the C34T AMPD1 polymorphism in the HERITAGE family study
-
Rico-Sanz J, Rankinen T, Joanisse DR, et al. Associations between cardiorespiratory responses to exercise and the C34T AMPD1 polymorphism in the HERITAGE family study. Physiol Genomics 2003; 14: 161-6
-
(2003)
Physiol Genomics
, vol.14
, pp. 161-166
-
-
Rico-Sanz, J.1
Rankinen, T.2
Joanisse, D.R.3
-
82
-
-
0031694689
-
Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle
-
Norman B, Mahnke-Zizelman DK, Vallis A, Sabina RL. Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle. J Appl Physiol 1998; 85: 1273-8
-
(1998)
J Appl Physiol
, vol.85
, pp. 1273-1278
-
-
Norman, B.1
Mahnke-Zizelman, D.K.2
Vallis, A.3
Sabina, R.L.4
-
83
-
-
0025386484
-
Inclusion body myositis. An electrophysiologic study
-
Dumitru D, Newell-Eggert M. Inclusion body myositis. An electrophysiologic study. Am J Phys Med Rehabil 1990; 69: 2-5
-
(1990)
Am J Phys Med Rehabil
, vol.69
, pp. 2-5
-
-
Dumitru, D.1
Newell-Eggert, M.2
-
84
-
-
0034083637
-
Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin Val122Ile allele
-
Askanas V, Engel WK, Alvarez RB, Frangione B, Ghiso J, Vidal R. Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin Val122Ile allele. Ann Neurol 2000; 47: 544-9
-
(2000)
Ann Neurol
, vol.47
, pp. 544-549
-
-
Askanas, V.1
Engel, W.K.2
Alvarez, R.B.3
Frangione, B.4
Ghiso, J.5
Vidal, R.6
-
85
-
-
53049089196
-
The hereditary inclusion body myopathy enigma and its future therapy
-
Argov Z, Mitrani-Rosenbaum S. The hereditary inclusion body myopathy enigma and its future therapy. Neurotherapeutics 2008; 5: 633-7
-
(2008)
Neurotherapeutics
, vol.5
, pp. 633-637
-
-
Argov, Z.1
Mitrani-Rosenbaum, S.2
-
86
-
-
0033129224
-
Isolated abnormality (noncompaction) of the myocardium in 3 children
-
Hussein A, Schmaltz AA, Trowitzsch E. Isolated abnormality (noncompaction) of the myocardium in 3 children. Klin Padiatr 1999; 211: 175-8
-
(1999)
Klin Padiatr
, vol.211
, pp. 175-178
-
-
Hussein, A.1
Schmaltz, A.A.2
Trowitzsch, E.3
-
87
-
-
0032771725
-
Ventricular noncompaction and distal chromosome 5q deletion
-
Pauli RM, Scheib-Wixted S, Cripe L, Izumo S, Sekhon GS. Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet 1999; 85: 419-23
-
(1999)
Am J Med Genet
, vol.85
, pp. 419-423
-
-
Pauli, R.M.1
Scheib-Wixted, S.2
Cripe, L.3
Izumo, S.4
Sekhon, G.S.5
-
88
-
-
0346059546
-
Noncompaction of the ventricular myocardium associated with mitral regurgitation and preserved ventricular systolic function
-
Ali SK, Omran AS, Najm H, Godman MJ. Noncompaction of the ventricular myocardium associated with mitral regurgitation and preserved ventricular systolic function. J Am Soc Echocardiogr 2004; 17: 87-90
-
(2004)
J Am Soc Echocardiogr
, vol.17
, pp. 87-90
-
-
Ali, S.K.1
Omran, A.S.2
Najm, H.3
Godman, M.J.4
-
90
-
-
65449179236
-
Cardiac and neuromuscular implications of left bundle branch block in left ventricular hypertrabeculation/noncompaction
-
Stöllberger C, Blazek G, Winkler-Dworak M, Finsterer J. Cardiac and neuromuscular implications of left bundle branch block in left ventricular hypertrabeculation/noncompaction. Can J Cardiol 2009; 25: e82-5
-
(2009)
Can J Cardiol
, vol.25
-
-
Stöllberger, C.1
Blazek, G.2
Winkler-Dworak, M.3
Finsterer, J.4
-
91
-
-
61449266820
-
Atrial fibrillation in left ventricular noncompaction with and without neuromuscular disorders is associated with a poor prognosis
-
Stöllberger C, Blazek G, Winkler-Dworak M, Finsterer J. Atrial fibrillation in left ventricular noncompaction with and without neuromuscular disorders is associated with a poor prognosis. Int J Cardiol 2009; 133: 41-5
-
(2009)
Int J Cardiol
, vol.133
, pp. 41-45
-
-
Stöllberger, C.1
Blazek, G.2
Winkler-Dworak, M.3
Finsterer, J.4
-
92
-
-
59249091241
-
Septal hypertrabeculation/noncompaction: Cardiac and neurologic implications
-
Stöllberger C, Finsterer J. Septal hypertrabeculation/noncompaction: cardiac and neurologic implications. Int J Cardiol 2009; 132: 173-5
-
(2009)
Int J Cardiol
, vol.132
, pp. 173-175
-
-
Stöllberger, C.1
Finsterer, J.2
-
93
-
-
50249141634
-
Diagnosing left ventricular noncompaction by echocardiography and cardiac magnetic resonance imaging and its dependency on neuromuscular disorders
-
Stöllberger C, Kopsa W, Tscherney R, Finsterer J. Diagnosing left ventricular noncompaction by echocardiography and cardiac magnetic resonance imaging and its dependency on neuromuscular disorders. Clin Cardiol 2008; 31: 383-7
-
(2008)
Clin Cardiol
, vol.31
, pp. 383-387
-
-
Stöllberger, C.1
Kopsa, W.2
Tscherney, R.3
Finsterer, J.4
-
94
-
-
77949490083
-
In and outpatients with noncompaction: Differences in cardiac and neuromuscular co-morbidity
-
Stöllberger C, Blazek G, Winkler-Dworak M, Finsterer J. In and outpatients with noncompaction: differences in cardiac and neuromuscular co-morbidity. Int J Cardiol 2010; 140: 108-11
-
(2010)
Int J Cardiol
, vol.140
, pp. 108-111
-
-
Stöllberger, C.1
Blazek, G.2
Winkler-Dworak, M.3
Finsterer, J.4
-
95
-
-
42449150831
-
Sex differences in left ventricular noncompaction in patients with and without neuromuscular disorders
-
Stöllberger C, Blazek G, Winkler-Dworak M, Finsterer J. Sex differences in left ventricular noncompaction in patients with and without neuromuscular disorders. Rev Esp Cardiol 2008; 61: 130-6
-
(2008)
Rev Esp Cardiol
, vol.61
, pp. 130-136
-
-
Stöllberger, C.1
Blazek, G.2
Winkler-Dworak, M.3
Finsterer, J.4
-
96
-
-
55749106605
-
Cerebrovascular events in left ventricular hypertrabecula tion/noncompaction with and without myopathy
-
Finsterer J, Stollberger C, Mölzer G, Winkler-Dworak M, Blazek G. Cerebrovascular events in left ventricular hypertrabecula tion/noncompaction with and without myopathy. Int J Cardiol 2008; 130: 344-8
-
(2008)
Int J Cardiol
, vol.130
, pp. 344-348
-
-
Finsterer, J.1
Stollberger, C.2
Mölzer, G.3
Winkler-Dworak, M.4
Blazek, G.5
-
97
-
-
34548486038
-
Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity
-
Stöllberger C, Winkler-Dworak M, Blazek G, Finsterer J. Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity. Int J Cardiol 2007; 121: 189-93
-
(2007)
Int J Cardiol
, vol.121
, pp. 189-193
-
-
Stöllberger, C.1
Winkler-Dworak, M.2
Blazek, G.3
Finsterer, J.4
-
98
-
-
33847682283
-
Cardiologic and neuromuscular co-morbidity influences mortality of patients with left ventricular hypertrabeculation/noncompaction: Comparison with the Austrian general population
-
Stöllberger C, Winkler-Dworak M, Blazek G, Finsterer J. Cardiologic and neuromuscular co-morbidity influences mortality of patients with left ventricular hypertrabeculation/noncompaction: comparison with the Austrian general population. Acta Cardiol 2007; 62: 1-5.
-
(2007)
Acta Cardiol
, vol.62
, pp. 1-5
-
-
Stöllberger, C.1
Winkler-Dworak, M.2
Blazek, G.3
Finsterer, J.4
|