-
2
-
-
33750121615
-
Incidence, causes, and outcomes of dilated cardiomyopathy in children
-
Towbin JA, Lowe AM, Colan SD, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA 2006; 296:1867-1876.
-
(2006)
JAMA
, vol.296
, pp. 1867-1876
-
-
Towbin, J.A.1
Lowe, A.M.2
Colan, S.D.3
-
3
-
-
0029838265
-
Clinical approach to genetic cardiomyopathy in children
-
Schwartz ML, Cox GF, Lin AE, et al. Clinical approach to genetic cardiomyopathy in children. Circulation 1996; 94:2021-2038.
-
(1996)
Circulation
, vol.94
, pp. 2021-2038
-
-
Schwartz, M.L.1
Cox, G.F.2
Lin, A.E.3
-
4
-
-
84883723377
-
Genetic spectrum of cardiomyopathies with neuromuscular phenotype
-
Kostareva A, Sejersen T, Sjoberg G. Genetic spectrum of cardiomyopathies with neuromuscular phenotype. Front Biosci (Schol Ed) 2013; 5:325-340.
-
(2013)
Front Biosci (Schol Ed)
, vol.5
, pp. 325-340
-
-
Kostareva, A.1
Sejersen, T.2
Sjoberg, G.3
-
5
-
-
78650224404
-
End-stage cardiac disease as an initial presentation of systemic myopathies: Case series and literature review
-
Katzberg H, Karamchandani J, So YT, et al. End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review. J Child Neurol 2010; 25:1382-1388.
-
(2010)
J Child Neurol
, vol.25
, pp. 1382-1388
-
-
Katzberg, H.1
Karamchandani, J.2
So, Y.T.3
-
6
-
-
79953842000
-
Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy
-
Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011; 57:1641-1649.
-
(2011)
J Am Coll Cardiol
, vol.57
, pp. 1641-1649
-
-
Hershberger, R.E.1
Siegfried, J.D.2
-
7
-
-
42649101980
-
Left ventricular noncompaction in a patient with myotonic dystrophy type 2
-
Wahbi K, Meune C, Bassez G, et al. Left ventricular noncompaction in a patient with myotonic dystrophy type 2. Neuromuscul Disord 2008; 18:331-333.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 331-333
-
-
Wahbi, K.1
Meune, C.2
Bassez, G.3
-
8
-
-
84865210197
-
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 1 is caused by a des mutation
-
Hedberg C, Melberg A, Kuhl A, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 1 is caused by a DES mutation. Eur J Hum Genet 2012; 20:984-985.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 984-985
-
-
Hedberg, C.1
Melberg, A.2
Kuhl, A.3
-
9
-
-
75149193878
-
Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease
-
Limongelli G, Tome-Esteban M, Dejthevaporn C, et al. Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease. Eur J Heart Fail 2010; 12:114-121.
-
(2010)
Eur J Heart Fail
, vol.12
, pp. 114-121
-
-
Limongelli, G.1
Tome-Esteban, M.2
Dejthevaporn, C.3
-
10
-
-
84860295661
-
Mitochondrial diseases and the heart: An overview of molecular basis, diagnosis, treatment and clinical course
-
Limongelli G, Masarone D, D'Alessandro R, Elliott PM. Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course. Future Cardiol 2012; 8:71-88.
-
(2012)
Future Cardiol
, vol.8
, pp. 71-88
-
-
Limongelli, G.1
Masarone, D.2
D'alessandro, R.3
Elliott, P.M.4
-
11
-
-
84890118122
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 310200: World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 310200: World Wide Web URL: http://omim.org/.
-
-
-
-
12
-
-
2942718848
-
Cardiac function tests in neuromuscular diseases
-
vi
-
Bhakta D, Groh WJ. Cardiac function tests in neuromuscular diseases. Neurol Clin 2004; 22:591-617; vi.
-
(2004)
Neurol Clin
, vol.22
, pp. 591-617
-
-
Bhakta, D.1
Groh, W.J.2
-
13
-
-
0037304994
-
107th ENMC international workshop: The management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands
-
Bushby K, Muntoni F, Bourke JP. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, The Netherlands. Neuromuscul Disord 2003; 13:166-172.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 166-172
-
-
Bushby, K.1
Muntoni, F.2
Bourke, J.P.3
-
14
-
-
84890116246
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 300376. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 300376. World Wide Web URL: http://omim.org/
-
-
-
-
16
-
-
77649185345
-
Progress with genetic cardiomyopathies: Screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
Hershberger RE, Cowan J, Morales A, Siegfried JD. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail 2009; 2:253-261.
-
(2009)
Circ Heart Fail
, vol.2
, pp. 253-261
-
-
Hershberger, R.E.1
Cowan, J.2
Morales, A.3
Siegfried, J.D.4
-
18
-
-
84890115952
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 607155. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 607155. World Wide Web URL: http://omim.org/
-
-
-
-
19
-
-
84890123106
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 158900. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 158900. World Wide Web URL: http://omim.org/
-
-
-
-
20
-
-
0031743597
-
Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy
-
Laforêt P, de Toma C, Eymard B, et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998; 51:1454-1456.
-
(1998)
Neurology
, vol.51
, pp. 1454-1456
-
-
Laforêt, P.1
De Toma, C.2
Eymard, B.3
-
21
-
-
84890115359
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 160900. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 160900. World Wide Web URL: http://omim.org/
-
-
-
-
22
-
-
0030785476
-
Value of the electrocardiogram in determining cardiac events and mortality in myotonic dystrophy
-
Colleran JA, Hawley RJ, Pinnow EE, et al. Value of the electrocardiogram in determining cardiac events and mortality in myotonic dystrophy. Am J Cardiol 1997; 80:1494-1497.
-
(1997)
Am J Cardiol
, vol.80
, pp. 1494-1497
-
-
Colleran, J.A.1
Hawley, R.J.2
Pinnow, E.E.3
-
23
-
-
84890126208
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 602668. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 602668. World Wide Web URL: http://omim.org/
-
-
-
-
24
-
-
8744295714
-
Myotonic dystrophy type 1 and related myotonic disorders
-
Meola G, Moxley RT 3rd. Myotonic dystrophy type 1 and related myotonic disorders. J Neurol 2004; 251:1173-1182.
-
(2004)
J Neurol
, vol.251
, pp. 1173-1182
-
-
Meola, G.1
Moxley III, R.T.2
-
25
-
-
84890116771
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 181350. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 181350. World Wide Web URL: http://omim.org/
-
-
-
-
26
-
-
84890127966
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 159001. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 159001. World Wide Web URL: http://omim.org/
-
-
-
-
27
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
-
Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999; 341:1715-1724.
-
(1999)
N Engl J Med
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
Macrae, C.2
Sasaki, T.3
-
28
-
-
0037383576
-
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: A long-term longitudinal study
-
Boriani G, Gallina M, Merlini L, et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003; 34:901-908.
-
(2003)
Stroke
, vol.34
, pp. 901-908
-
-
Boriani, G.1
Gallina, M.2
Merlini, L.3
-
29
-
-
84890123343
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 300384. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 300384. World Wide Web URL: http://omim.org/
-
-
-
-
30
-
-
84890127636
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 300163. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 300163. World Wide Web URL: http://omim.org/
-
-
-
-
31
-
-
33646049669
-
Genotype: Phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
-
Bos JM, Poley RN, Ny M, et al. Genotype: phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab 2006; 88:78-85.
-
(2006)
Mol Genet Metab
, vol.88
, pp. 78-85
-
-
Bos, J.M.1
Poley, R.N.2
Ny, M.3
-
32
-
-
84890118878
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 118220. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 118220. World Wide Web URL: http://omim.org/
-
-
-
-
33
-
-
84890124984
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 118210. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 118210. World Wide Web URL: http://omim.org/
-
-
-
-
34
-
-
84890114782
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 302800. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 302800. World Wide Web URL: http://omim.org/
-
-
-
-
35
-
-
33645473866
-
Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A
-
Corrado G, Checcarelli N, Santarone M, et al. Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. Cardiology 2006; 105:142-145.
-
(2006)
Cardiology
, vol.105
, pp. 142-145
-
-
Corrado, G.1
Checcarelli, N.2
Santarone, M.3
-
36
-
-
84890129755
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 601419. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 601419. World Wide Web URL: http://omim.org/
-
-
-
-
37
-
-
84890116081
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 608810. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 608810. World Wide Web URL: http://omim.org/
-
-
-
-
38
-
-
84890116901
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 609200 . World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 609200 . World Wide Web URL: http://omim.org/
-
-
-
-
39
-
-
84890118100
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 612954. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 612954. World Wide Web URL: http://omim.org/
-
-
-
-
40
-
-
81255197001
-
Dilated cardiomyopathyassociated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes
-
Arimura T, Ishikawa T, Nunoda S, et al. Dilated cardiomyopathyassociated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. Hum Mutat 2011; 32:1481-1491.
-
(2011)
Hum Mutat
, vol.32
, pp. 1481-1491
-
-
Arimura, T.1
Ishikawa, T.2
Nunoda, S.3
-
41
-
-
84890128433
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 160500 . World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 160500 . World Wide Web URL: http://omim.org/
-
-
-
-
42
-
-
77957956350
-
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy
-
Muelas N, Hackman P, Luque H, et al. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology 2010; 75:732-741.
-
(2010)
Neurology
, vol.75
, pp. 732-741
-
-
Muelas, N.1
Hackman, P.2
Luque, H.3
-
43
-
-
84890118307
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 600334 . World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 600334 . World Wide Web URL: http://omim.org/
-
-
-
-
44
-
-
0036478897
-
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
-
Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002; 30:201-204.
-
(2002)
Nat Genet
, vol.30
, pp. 201-204
-
-
Gerull, B.1
Gramlich, M.2
Atherton, J.3
-
46
-
-
0141924531
-
The role of titin in muscular disorders
-
Hackman JP, Vihola AK, Udd AB. The role of titin in muscular disorders. Ann Med 2003; 35:434-441.
-
(2003)
Ann Med
, vol.35
, pp. 434-441
-
-
Hackman, J.P.1
Vihola, A.K.2
Udd, A.B.3
-
47
-
-
84890123805
-
-
OMIM: #605820 Nonaka Myopathy
-
OMIM: #605820 Nonaka Myopathy
-
-
-
-
48
-
-
56049109762
-
Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles
-
Malicdan MC, Nonaka I. Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. Neurol India 2008; 56:314-324.
-
(2008)
Neurol India
, vol.56
, pp. 314-324
-
-
Malicdan, M.C.1
Nonaka, I.2
-
49
-
-
84890117582
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 229300 . World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 229300 . World Wide Web URL: http://omim.org/
-
-
-
-
50
-
-
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
-
51
-
-
85026171376
-
Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial
-
[author reply 5; discussion 5]
-
Rustin P, Bonnet D, Rotig A, et al. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 2004; 62:524-525; [author reply 5; discussion 5].
-
(2004)
Neurology
, vol.62
, pp. 524-525
-
-
Rustin, P.1
Bonnet, D.2
Rotig, A.3
-
52
-
-
2542556601
-
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
-
Seznec H, Simon D, Monassier L, et al. Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 2004; 13:1017-1024.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1017-1024
-
-
Seznec, H.1
Simon, D.2
Monassier, L.3
-
53
-
-
84890123715
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 232300. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 232300. World Wide Web URL: http://omim.org/
-
-
-
-
54
-
-
84890122558
-
Molecular basis and clinical management of Pompe disease
-
Parenti G, Di Iorio G, Sampaolo S, et al. Molecular basis and clinical management of Pompe disease. Cardiogenetics 2013; 3:e5.
-
(2013)
Cardiogenetics
, vol.3
-
-
Parenti, G.1
Di Iorio, G.2
Sampaolo, S.3
-
55
-
-
84890124938
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 602743 . World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 602743 . World Wide Web URL: http://omim.org/
-
-
-
-
56
-
-
20044391423
-
Adenosine monophosphateactivated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: Natural history
-
Murphy RT, Mogensen J, McGarry K, et al. Adenosine monophosphateactivated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. J Am Coll Cardiol 2005; 45:922-930.
-
(2005)
J Am Coll Cardiol
, vol.45
, pp. 922-930
-
-
Murphy, R.T.1
Mogensen, J.2
McGarry, K.3
-
57
-
-
84890116305
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 232400 . World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 232400 . World Wide Web URL: http://omim.org/
-
-
-
-
58
-
-
0027049711
-
Glycogen storage disease type III (glycogen debranching enzyme deficiency): Correlation of biochemical defects with myopathy and cardiomyopathy
-
Coleman RA, Winter HS, Wolf B, et al. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 1992; 116:896-900.
-
(1992)
Ann Intern Med
, vol.116
, pp. 896-900
-
-
Coleman, R.A.1
Winter, H.S.2
Wolf, B.3
-
59
-
-
84890130447
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 300257 . World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM. World Wide Web URL: http://omim.org/Number:300257
-
-
-
-
60
-
-
24944575163
-
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children
-
Yang Z, McMahon CJ, Smith LR, et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation 2005; 112:1612-1617.
-
(2005)
Circulation
, vol.112
, pp. 1612-1617
-
-
Yang, Z.1
McMahon, C.J.2
Smith, L.R.3
-
61
-
-
63349109161
-
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy
-
Maron BJ, Roberts WC, Arad M, et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA 2009; 301:1253-1259.
-
(2009)
JAMA
, vol.301
, pp. 1253-1259
-
-
Maron, B.J.1
Roberts, W.C.2
Arad, M.3
-
62
-
-
84890124346
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 212138. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 212138. World Wide Web URL: http://omim.org/
-
-
-
-
63
-
-
84890118222
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 608836. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 608836. World Wide Web URL: http://omim.org/
-
-
-
-
65
-
-
84890128009
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 302060. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 302060. World Wide Web URL: http://omim.org/
-
-
-
-
67
-
-
33748424435
-
Cardiac and clinical phenotype in Barth syndrome
-
Spencer CT, Bryant RM, Day J, et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006; 118:e337-e346.
-
(2006)
Pediatrics
, vol.118
-
-
Spencer, C.T.1
Bryant, R.M.2
Day, J.3
-
68
-
-
84890124570
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 102770. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 102770. World Wide Web URL: http://omim.org/
-
-
-
-
69
-
-
0030969651
-
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency
-
Gross M. Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency. J Inherit Metab Dis 1997; 20:186-192.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 186-192
-
-
Gross, M.1
-
70
-
-
84890119437
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 545000. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 545000. World Wide Web URL: http://omim.org/
-
-
-
-
71
-
-
84890127611
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 540000. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 540000. World Wide Web URL: http://omim.org/
-
-
-
-
72
-
-
84890121227
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 535000. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 535000. World Wide Web URL: http://omim.org/
-
-
-
-
73
-
-
84890116488
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 551500. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 551500. World Wide Web URL: http://omim.org/
-
-
-
-
74
-
-
84890116904
-
-
Johns Hopkins University, Baltimore, MD. MIM Number: 530000. World Wide Web
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 530000. World Wide Web URL: http://omim.org/
-
-
-
-
75
-
-
79960564849
-
How do mutations in contractile proteins cause the primary familial cardiomyopathies?
-
Marston SB. How do mutations in contractile proteins cause the primary familial cardiomyopathies? J Cardiovasc Transl Res 2011; 4:245-255.
-
(2011)
J Cardiovasc Transl Res
, vol.4
, pp. 245-255
-
-
Marston, S.B.1
-
76
-
-
0344873698
-
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction
-
Vatta M, Mohapatra B, Jimenez S, et al. 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
-
77
-
-
2342621479
-
The dystrophin glycoprotein complex: Signaling strength and integrity for the sarcolemma
-
Lapidos KA, Kakkar R, McNally EM. The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ Res 2004; 94:1023-1031.
-
(2004)
Circ Res
, vol.94
, pp. 1023-1031
-
-
Lapidos, K.A.1
Kakkar, R.2
McNally, E.M.3
-
78
-
-
75149187810
-
Cardiac manifestations of neuromuscular disorders in children
-
Hsu DT. Cardiac manifestations of neuromuscular disorders in children. Paediatr Respir Rev 2010; 11:35-38.
-
(2010)
Paediatr Respir Rev
, vol.11
, pp. 35-38
-
-
Hsu, D.T.1
-
79
-
-
84890125862
-
Phenotypic spectrum of mutations in cardiolaminopathies
-
Marian AJ. Phenotypic spectrum of mutations in cardiolaminopathies. Cardiogenetics 2011; 1:e6.
-
(2011)
Cardiogenetics
, vol.1
-
-
Marian, A.J.1
-
80
-
-
0242522154
-
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines
-
Task Force on Clinical Expert Consensus Documents. American College of Cardiology; Committee for Practice Guidelines. European Society of Cardiology
-
Maron BJ, McKenna WJ, Danielson GK, et al., Task Force on Clinical Expert Consensus Documents. American College of Cardiology; Committee for Practice Guidelines. European Society of Cardiology. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 2003; 42:1687-1713.
-
(2003)
J Am Coll Cardiol
, vol.42
, pp. 1687-1713
-
-
Maron, B.J.1
McKenna, W.J.2
Danielson, G.K.3
-
81
-
-
13944269529
-
Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells
-
Kirschner SE, Becker E, Antognozzi M, et al. Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells. Am J Physiol Heart Circ Physiol 2005; 288:H1242-H1251.
-
(2005)
Am J Physiol Heart Circ Physiol
, vol.288
-
-
Kirschner, S.E.1
Becker, E.2
Antognozzi, M.3
-
83
-
-
0031428848
-
Isolated noncompaction of the myocardium in adults
-
Ritter M, Oechslin E, Sutsch G, et al. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc 1997; 72:26-31.
-
(1997)
Mayo Clin Proc
, vol.72
, pp. 26-31
-
-
Ritter, M.1
Oechslin, E.2
Sutsch, G.3
-
86
-
-
44649118695
-
Mutations in sarcomere protein genes in left ventricular noncompaction
-
Klaassen S, Probst S, Oechslin E, et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 2008; 117:2893-2901.
-
(2008)
Circulation
, vol.117
, pp. 2893-2901
-
-
Klaassen, S.1
Probst, S.2
Oechslin, E.3
-
87
-
-
33646693410
-
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
-
American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention
-
Maron BJ, Towbin JA, Thiene G, et al., American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention. 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.
-
(2006)
Circulation
, vol.113
, pp. 1807-1816
-
-
Maron, B.J.1
Towbin, J.A.2
Thiene, G.3
-
88
-
-
79551493005
-
Isolated left ventricular noncompaction in adults: Clinical and echocardiographic features in 105 patients. Results from a French registry
-
Working Groups 'Heart Failure and Cardiomyopathies' and 'Echocardiography' of the French Society of Cardiology
-
Habib G, Charron P, Eicher JC, et al., Working Groups 'Heart Failure and Cardiomyopathies' and 'Echocardiography' of the French Society of Cardiology. Isolated left ventricular noncompaction in adults: clinical and echocardiographic features in 105 patients. Results from a French registry. Eur J Heart Fail 2011; 13:177-185.
-
(2011)
Eur J Heart Fail
, vol.13
, pp. 177-185
-
-
Habib, G.1
Charron, P.2
Eicher, J.C.3
-
89
-
-
44849126424
-
Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction
-
Xia S, Wang H, Zhang X, et al. Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction. Intern Med 2008; 47:577-583.
-
(2008)
Intern Med
, vol.47
, pp. 577-583
-
-
Xia, S.1
Wang, H.2
Zhang, X.3
-
90
-
-
77955880540
-
The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy
-
Hoedemaekers YM, Caliskan K, Michels M, et al. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet 2010; 3:232-239.
-
(2010)
Circ Cardiovasc Genet
, vol.3
, pp. 232-239
-
-
Hoedemaekers, Y.M.1
Caliskan, K.2
Michels, M.3
-
91
-
-
84884213497
-
Familal left ventricular hypertrabeculation (noncompaction) is myopathic
-
Finsterer J, Stöllberger C, Blazek G, Sehnal E. Familal left ventricular hypertrabeculation (noncompaction) is myopathic. Int J Cardiol 2013; 164:312-317.
-
(2013)
Int J Cardiol
, vol.164
, pp. 312-317
-
-
Finsterer, J.1
Stöllberger, C.2
Blazek, G.3
Sehnal, E.4
-
93
-
-
10644283181
-
Frequency and clinical expression of cardiac troponin i mutations in 748 consecutive families with hypertrophic cardiomyopathy
-
Mogensen J, Murphy RT, Kubo T, et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44:2315-2325.
-
(2004)
J Am Coll Cardiol
, vol.44
, pp. 2315-2325
-
-
Mogensen, J.1
Murphy, R.T.2
Kubo, T.3
-
94
-
-
34250779383
-
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype
-
Kubo T, Gimeno JR, Bahl A, et al. Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. J Am Coll Cardiol 2007; 49:2419-2426.
-
(2007)
J Am Coll Cardiol
, vol.49
, pp. 2419-2426
-
-
Kubo, T.1
Gimeno, J.R.2
Bahl, A.3
-
95
-
-
54449102251
-
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
-
Kaski JP, Syrris P, Burch M, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 2008; 94:1478-1484.
-
(2008)
Heart
, vol.94
, pp. 1478-1484
-
-
Kaski, J.P.1
Syrris, P.2
Burch, M.3
-
96
-
-
84879503706
-
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes
-
Gudkova A, Kostareva A, Sjoberg G, et al. Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. Pediatr Cardiol 2013; 34:467-470.
-
(2013)
Pediatr Cardiol
, vol.34
, pp. 467-470
-
-
Gudkova, A.1
Kostareva, A.2
Sjoberg, G.3
-
97
-
-
38949159633
-
Arrhythmogenic right ventricular cardiomyopathy/dysplasia
-
Thiene G, Corrado D, Basso C. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Orphanet J Rare Dis 2007; 2:45.
-
(2007)
Orphanet J Rare Dis
, vol.2
, pp. 45
-
-
Thiene, G.1
Corrado, D.2
Basso, C.3
-
98
-
-
35548997132
-
Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2007; 50:1813-1821.
-
(2007)
J Am Coll Cardiol
, vol.50
, pp. 1813-1821
-
-
Sen-Chowdhry, S.1
Syrris, P.2
McKenna, W.J.3
-
99
-
-
0034679297
-
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
-
McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355:2119-2124.
-
(2000)
Lancet
, vol.355
, pp. 2119-2124
-
-
McKoy, G.1
Protonotarios, N.2
Crosby, A.3
-
100
-
-
0034326902
-
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
-
Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9:2761-2766.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2761-2766
-
-
Norgett, E.E.1
Hatsell, S.J.2
Carvajal-Huerta, L.3
-
101
-
-
79952537763
-
Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia
-
Corrado D, Basso C, Pilichou K, Thiene G. Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart 2011; 97:530-539.
-
(2011)
Heart
, vol.97
, pp. 530-539
-
-
Corrado, D.1
Basso, C.2
Pilichou, K.3
Thiene, G.4
-
102
-
-
33745848407
-
Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy
-
Garcia-Gras E, Lombardi R, Giocondo MJ, et al. Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 2006; 116:2012-2021.
-
(2006)
J Clin Invest
, vol.116
, pp. 2012-2021
-
-
Garcia-Gras, E.1
Lombardi, R.2
Giocondo, M.J.3
-
103
-
-
0032701867
-
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q
-
Melberg A, Oldfors A, Blomstrom-Lundqvist C, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 1999; 46:684-692.
-
(1999)
Ann Neurol
, vol.46
, pp. 684-692
-
-
Melberg, A.1
Oldfors, A.2
Blomstrom-Lundqvist, C.3
-
104
-
-
39749125673
-
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: Corroboration and narrowing of the critical region on 10q22
-
Kuhl A, Melberg A, Meinl E, et al. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet 2008; 16:367-373.
-
(2008)
3. Eur J Hum Genet
, vol.16
, pp. 367-373
-
-
Kuhl, A.1
Melberg, A.2
Meinl, E.3
-
105
-
-
0015107077
-
Electromyography in patients with hypertrophic obstructive cardiomyopathy
-
Hootsmans WJM, Meerschwam IS. Electromyography in patients with hypertrophic obstructive cardiomyopathy. Neurology 1971; 21:810-816.
-
(1971)
Neurology
, vol.21
, pp. 810-816
-
-
Hootsmans, W.J.M.1
Meerschwam, I.S.2
-
108
-
-
0024416207
-
Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: Evidence of subclinical myogenic myopathy
-
Caforio AL, Rossi B, Risaliti R, et al. Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy. J Am Coll Cardiol 1989; 14:1464-1473.
-
(1989)
J Am Coll Cardiol
, vol.14
, pp. 1464-1473
-
-
Caforio, A.L.1
Rossi, B.2
Risaliti, R.3
-
109
-
-
0033646473
-
Electromyographic evidence of subclinical myopathy in hypertrophic cardiomyopathy
-
Karandreas N, Stathis P, Anastasakis A, et al. Electromyographic evidence of subclinical myopathy in hypertrophic cardiomyopathy. Muscle Nerve 2000; 23:1856-1861.
-
(2000)
Muscle Nerve
, vol.23
, pp. 1856-1861
-
-
Karandreas, N.1
Stathis, P.2
Anastasakis, A.3
-
110
-
-
0027221634
-
Missense mutations in the bmyosin heavy-chain gene causes central core disease in hypertrophic cardiomyopathy
-
Fananapazir L, Dalakas MC, Cyran F, et al. Missense mutations in the bmyosin heavy-chain gene causes central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A 1993; 90:3993-3997.
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 3993-3997
-
-
Fananapazir, L.1
Dalakas, M.C.2
Cyran, F.3
-
111
-
-
0037722719
-
Subclinical skeletal muscle abnormalities in patients with hypertrophic cardiomyopathy and their relation to clinical characteristics
-
Anastasakis A, Karandreas N, Stathis P, et al. Subclinical skeletal muscle abnormalities in patients with hypertrophic cardiomyopathy and their relation to clinical characteristics. Int J Cardiol 2003; 89:249-256.
-
(2003)
Int J Cardiol
, vol.89
, pp. 249-256
-
-
Anastasakis, A.1
Karandreas, N.2
Stathis, P.3
-
112
-
-
17144455726
-
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32
-
Onengüt S, Uǧur SA, Karasoy H, et al. Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. Neuromuscul Disord 2004; 14:4-9.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 4-9
-
-
Onengüt, S.1
Uǧur, S.A.2
Karasoy, H.3
-
113
-
-
34047117882
-
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
-
Pegoraro E, Gavassini BF, Borsato C, et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord 2007; 17:321-329.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 321-329
-
-
Pegoraro, E.1
Gavassini, B.F.2
Borsato, C.3
-
114
-
-
79952759319
-
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
-
Ortolano S, Tarrío R, Blanco-Arias P, et al. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord 2011; 21:254-262.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 254-262
-
-
Ortolano, S.1
Tarrío, R.2
Blanco-Arias, P.3
-
115
-
-
84870391271
-
Mutations in MYH7 cause Multiminicore Disease (MmD) with variable cardiac involvement
-
Cullup T, Lamont PJ, Cirak S, et al. Mutations in MYH7 cause Multiminicore Disease (MmD) with variable cardiac involvement. Neuromuscul Disord 2012; 22:1096-1104.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 1096-1104
-
-
Cullup, T.1
Lamont, P.J.2
Cirak, S.3
-
116
-
-
44649192645
-
ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines
-
(Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices): Developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons
-
Epstein AE, DiMarco JP, Ellenbogen KA, et al. ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices): developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons. Circulation 2008; 117:e350-e408.
-
(2008)
Circulation
, vol.117
-
-
Epstein, A.E.1
Dimarco, J.P.2
Ellenbogen, K.A.3
-
117
-
-
84890130004
-
The genetics of heart failure
-
Oxford: Oxford University Press
-
Limongelli G, Elliott P. The genetics of heart failure. Oxford Textbook of Heart Failure. Oxford: Oxford University Press; 2011. Vol. 5. pp. 39-54.
-
(2011)
Oxford Textbook of Heart Failure
, vol.5
, pp. 39-54
-
-
Limongelli, G.1
Elliott, P.2
-
119
-
-
72149108443
-
Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial managemen
-
DMD Care Considerations Working Group
-
Bushby K, Finkel R, Birnkrant DJ, et al., DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial managemen. Lancet Neurol 2010; 9:77-93.
-
(2010)
Lancet Neurol
, vol.9
, pp. 77-93
-
-
Bushby, K.1
Finkel, R.2
Birnkrant, D.J.3
-
120
-
-
84868617316
-
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene
-
Binder JS, Weidemann F, Schoser B, et al. Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene. Circ Cardiovasc Genet 2012; 5:490-502.
-
(2012)
Circ Cardiovasc Genet
, vol.5
, pp. 490-502
-
-
Binder, J.S.1
Weidemann, F.2
Schoser, B.3
-
121
-
-
77956392191
-
Myofibrillar myopathies
-
Selcen D. Myofibrillar myopathies. Curr Opin Neurol 2010; 23:477-481.
-
(2010)
Curr Opin Neurol
, vol.23
, pp. 477-481
-
-
Selcen, D.1
-
122
-
-
80052186988
-
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy
-
Villard E, Perret C, Gary F, et al. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur Heart J 2011; 32:1065-1076.
-
(2011)
Eur Heart J
, vol.32
, pp. 1065-1076
-
-
Villard, E.1
Perret, C.2
Gary, F.3
-
123
-
-
35848949074
-
The role of endomyocardial biopsy in the management of cardiovascular disease: A scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology
-
American Heart Association; American College of Cardiology; European Society of Cardiology
-
Cooper LT, Baughman KL, Feldman AM, et al., American Heart Association; American College of Cardiology; European Society of Cardiology. The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology. Circulation 2007; 116:2216-2233.
-
(2007)
Circulation
, vol.116
, pp. 2216-2233
-
-
Cooper, L.T.1
Baughman, K.L.2
Feldman, A.M.3
-
124
-
-
79952150967
-
Cardiac involvement in patients with muscular dystrophies: Magnetic resonance imaging phenotype and genotypic considerations
-
Verhaert D, Richards K, Rafael-Fortney JA, Raman SV. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging 2011; 4:67-76.
-
(2011)
Circ Cardiovasc Imaging
, vol.4
, pp. 67-76
-
-
Verhaert, D.1
Richards, K.2
Rafael-Fortney, J.A.3
Raman, S.V.4
-
125
-
-
77957860016
-
Neuromuscular imaging in inherited muscle diseases
-
Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010; 20:2447-2460.
-
(2010)
Eur Radiol
, vol.20
, pp. 2447-2460
-
-
Wattjes, M.P.1
Kley, R.A.2
Fischer, D.3
-
126
-
-
30444446953
-
Primary prevention of sudden death in patients with lamin A/C gene mutations
-
Meune C, Van Berlo JH, Anselme F, et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006; 354:209-210.
-
(2006)
N Engl J Med
, vol.354
, pp. 209-210
-
-
Meune, C.1
Van Berlo, J.H.2
Anselme, F.3
-
127
-
-
52949111684
-
Long-term outcome and risk stratification in dilated cardiolaminopathies
-
Pasotti M, Klersy C, Pilotto A, et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008; 52:1250-1260.
-
(2008)
J Am Coll Cardiol
, vol.52
, pp. 1250-1260
-
-
Pasotti, M.1
Klersy, C.2
Pilotto, A.3
-
128
-
-
84884489700
-
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers
-
Van Rijsingen IA, Nannenberg EA, Arbustini E, et al. Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. Eur J Heart Fail 2013; 15:376-384.
-
(2013)
Eur J Heart Fail
, vol.15
, pp. 376-384
-
-
Van Rijsingen, I.A.1
Nannenberg, E.A.2
Arbustini, E.3
-
129
-
-
84856194138
-
Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study
-
van Rijsingen IA, Arbustini E, Elliott PM, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 2012; 59:493-500.
-
(2012)
J Am Coll Cardiol
, vol.59
, pp. 493-500
-
-
Van Rijsingen, I.A.1
Arbustini, E.2
Elliott, P.M.3
-
130
-
-
0038187688
-
Idebenone treatment in Friedreich's ataxia: Neurological, cardiac, and biochemical monitoring
-
Buyse G, Mertens L, Di Salvo G, et al. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology 2003; 60:1679-1681.
-
(2003)
Neurology
, vol.60
, pp. 1679-1681
-
-
Buyse, G.1
Mertens, L.2
Di Salvo, G.3
-
131
-
-
79953753153
-
Cardiomyopathy of Friedreich's ataxia: Use of mouse models to understand human disease and guide therapeutic development
-
doi: 10.1007/s00246-011-9943-6
-
Payne RM, Pride PM, Babbey CM. Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development. Pediatr Cardiol 2011; 32:366-378; doi: 10.1007/s00246-011-9943-6.
-
(2011)
Pediatr Cardiol
, vol.32
, pp. 366-378
-
-
Payne, R.M.1
Pride, P.M.2
Babbey, C.M.3
-
132
-
-
79955468608
-
The heart in Friedreich's ataxia: Basic findings and clinical implications
-
Payne RM. The heart in Friedreich's ataxia: basic findings and clinical implications. Prog Pediatr Cardiol 2011; 31:103-109.
-
(2011)
Prog Pediatr Cardiol
, vol.31
, pp. 103-109
-
-
Payne, R.M.1
-
133
-
-
77953256203
-
Friedreich's ataxia cardiomyopathy: Case based discussion and management issues
-
Hanley A, Corrigan R, Mohammad S, MacMahon B. Friedreich's ataxia cardiomyopathy: case based discussion and management issues. Ir Med J 2010; 103:117-118.
-
(2010)
Ir Med J
, vol.103
, pp. 117-118
-
-
Hanley, A.1
Corrigan, R.2
Mohammad, S.3
Macmahon, B.4
-
134
-
-
84865232176
-
Management and therapy for cardiomyopathy in Friedreich's ataxia
-
doi: 10.1586/erc.12.57
-
Lynch DR, Regner SR, Schadt KA, et al. Management and therapy for cardiomyopathy in Friedreich's ataxia. Expert Rev Cardiovasc Ther 2012; 10:767-777; doi: 10.1586/erc.12.57.
-
(2012)
Expert Rev Cardiovasc Ther
, vol.10
, pp. 767-777
-
-
Lynch, D.R.1
Regner, S.R.2
Schadt, K.A.3
-
135
-
-
79952451186
-
Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA)
-
e1
-
Lagedrost SJ, Sutton MS, Cohen MS, et al. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J 2011; 161:639-645; e1.
-
(2011)
Am Heart J
, vol.161
, pp. 639-645
-
-
Lagedrost, S.J.1
Sutton, M.S.2
Cohen, M.S.3
-
136
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
Herman D, Jenssen K, Burnett R, et al. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol 2006; 2:551-558.
-
(2006)
Nat Chem Biol
, vol.2
, pp. 551-558
-
-
Herman, D.1
Jenssen, K.2
Burnett, R.3
-
137
-
-
77952530338
-
Mitochondrial disorders overview
-
Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Seattle (WA): University of Washington, Seattle; 1993-2000 updated 16 September 2010
-
Chinnery PF. Mitochondrial disorders overview. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Source GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2000 updated 16 September 2010].
-
Source GeneReviews [Internet]
-
-
Chinnery, P.F.1
-
138
-
-
0037304994
-
Cardiac involvement in muscular dystrophy and myotonic dystrophy: Report on 107th ENMC International Workshop
-
Bushby KMD, Muntoni F, Bourke JP. Cardiac involvement in muscular dystrophy and myotonic dystrophy: Report on 107th ENMC International Workshop. Neuromusc Disord 2003; 13:166-172.
-
(2003)
Neuromusc Disord
, vol.13
, pp. 166-172
-
-
Bushby, K.M.D.1
Muntoni, F.2
Bourke, J.P.3
-
139
-
-
33846946114
-
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
-
Cohn RD, van Erp C, Habashi JP, et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007; 13:204-210.
-
(2007)
Nat Med
, vol.13
, pp. 204-210
-
-
Cohn, R.D.1
Van Erp, C.2
Habashi, J.P.3
-
140
-
-
80051690306
-
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An openlabel, phase 2, dose-escalation study
-
Cirak S, Arechavala-Gomeza V, Guglieri M, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an openlabel, phase 2, dose-escalation study. Lancet 2011; 378:595-605.
-
(2011)
Lancet
, vol.378
, pp. 595-605
-
-
Cirak, S.1
Arechavala-Gomeza, V.2
Guglieri, M.3
-
142
-
-
33646478253
-
Long-term benefi ts of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade
-
Biggar WD, Harris VA, Eliasoph L, Alman B. Long-term benefi ts of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord 2006; 16:249-255.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 249-255
-
-
Biggar, W.D.1
Harris, V.A.2
Eliasoph, L.3
Alman, B.4
-
143
-
-
0036796396
-
Experimental and therapeutic approaches to muscular dystrophies
-
Skuk D, Vilquin JT, Tremblay JP. Experimental and therapeutic approaches to muscular dystrophies. Curr Opin Neurol 2002; 15:563-569.
-
(2002)
Curr Opin Neurol
, vol.15
, pp. 563-569
-
-
Skuk, D.1
Vilquin, J.T.2
Tremblay, J.P.3
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