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1
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0021382544
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Genetic heterogeneity in Duchenne muscular dystrophy
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One of the first articles to provide evidence of genetic heterogeneity in muscular dystrophy
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Emery AE. Genetic heterogeneity in Duchenne muscular dystrophy. J Med Genet 1984;21:76-7. One of the first articles to provide evidence of genetic heterogeneity in muscular dystrophy.
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(1984)
J Med Genet
, vol.21
, pp. 76-77
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Emery, A.E.1
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2
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0037160782
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The muscular dystrophies
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DOI 10.1016/S0140-6736(02)07815-7
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Emery AE. The muscular dystrophies. Lancet 2002;359:687-95. An excellent review regarding the clinical phenotype of different muscular dystrophies. (Pubitemid 34203773)
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(2002)
Lancet
, vol.359
, Issue.9307
, pp. 687-695
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Emery, A.E.H.1
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3
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47849113428
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Duchenne muscular dystrophy: How bad is the heart?
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DOI 10.1136/hrt.2007.138461
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McNally EM. Duchenne muscular dystrophy: how bad is the heart? Heart 2008;94:976-7. (Pubitemid 352039876)
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(2008)
Heart
, vol.94
, Issue.8
, pp. 976-977
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McNally, E.M.1
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4
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8044224015
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Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy
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Melacini P, Fanin M, Danieli GA, et al. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 1996;94:3168-75. (Pubitemid 26427483)
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(1996)
Circulation
, vol.94
, Issue.12
, pp. 3168-3175
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Melacini, P.1
Fanin, M.2
Danieli, G.A.3
Villanova, C.4
Martinello, F.5
Miorin, M.6
Freda, M.P.7
Miorelli, M.8
Mostacciuolo, M.L.9
Fasoli, G.10
Angelini, C.11
Dalla, V.S.12
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5
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70349665193
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Cardiovascular magnetic resonance reveals similar damage to the heart of patients with Becker and limb-girdle muscular dystrophy but no cardiac symptoms
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Yilmaz A, Gdynia HJ, Mahrholdt H, et al. Cardiovascular magnetic resonance reveals similar damage to the heart of patients with Becker and limb-girdle muscular dystrophy but no cardiac symptoms. J Magn Reson Imaging 2009;30:876-7.
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(2009)
J Magn Reson Imaging
, vol.30
, pp. 876-877
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Yilmaz, A.1
Gdynia, H.J.2
Mahrholdt, H.3
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6
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0023718118
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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
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Monaco AP, Bertelson CJ, Liechti-Gallati S, et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-5.
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(1988)
Genomics
, vol.2
, pp. 90-95
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Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
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7
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0014056078
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The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. An electrocardiographic-pathologic correlative study
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An excellent study demonstrating the association between the distinctive ECG and the pattern of cardiomyopathy in muscular dystrophy patients
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Perloff JK, Roberts WC, de LA Jr, et al. The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. An electrocardiographic-pathologic correlative study. Am J Med 1967;42:179-88. An excellent study demonstrating the association between the distinctive ECG and the pattern of cardiomyopathy in muscular dystrophy patients.
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(1967)
Am J Med
, vol.42
, pp. 179-188
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Perloff, J.K.1
Roberts, W.C.2
De Jr., L.A.3
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8
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0018139687
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An ultrastructural basis for electrocardiographic alterations associated with Duchenne's progressive muscular dystrophy
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Sanyal SK, Johnson WW, Thapar MK, et al. An ultrastructural basis for electrocardiographic alterations associated with Duchenne's progressive muscular dystrophy. Circulation 1978;57:1122-9. (Pubitemid 8343629)
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(1978)
Circulation
, vol.57
, Issue.6
, pp. 1122-1129
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Sanyal, S.K.1
Johnson, W.W.2
Thapar, M.K.3
Pitner, S.E.4
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9
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0017122869
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The pathology of the heart in progressive muscular dystrophy: Epimyocardial fibrosis
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Frankel KA, Rosser RJ. The pathology of the heart in progressive muscular dystrophy: epimyocardial fibrosis. Hum Pathol 1976;7:375-86.
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(1976)
Hum Pathol
, vol.7
, pp. 375-386
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Frankel, K.A.1
Rosser, R.J.2
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10
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58749093466
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Cardiac involvement in patients with Becker muscular dystrophy: New diagnostic and pathophysiological insights by a CMR approach
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Yilmaz A, Gdynia HJ, Baccouche H, et al. Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach. J Cardiovasc Magn Reson 2008;10:50.
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(2008)
J Cardiovasc Magn Reson
, vol.10
, pp. 50
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Yilmaz, A.1
Gdynia, H.J.2
Baccouche, H.3
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11
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0021360614
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Alterations in regional myocardial metabolism, perfusion, and wall motion in Duchenne muscular dystrophy studied by radionuclide imaging
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Perloff JK, Henze E, Schelbert HR. Alterations in regional myocardial metabolism, perfusion, and wall motion in Duchenne muscular dystrophy studied by radionuclide imaging. Circulation 1984;69:33-42. Another excellent study by Perloff and colleagues evaluating potential regional abnormalities in metabolism and perfusion in muscular dystrophy patients using scintigraphic methods. (Pubitemid 14215859)
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(1984)
Circulation
, vol.69
, Issue.1
, pp. 33-42
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Perloff, J.K.1
Henze, E.2
Schelbert, H.R.3
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12
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0036532426
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Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy
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DOI 10.1016/S0002-9149(02)02195-1, PII S0002914902021951
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Corrado G, Lissoni A, Beretta S, et al. Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy. Am J Cardiol 2002;89:838-41. (Pubitemid 34241462)
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(2002)
American Journal of Cardiology
, vol.89
, Issue.7
, pp. 838-841
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Corrado, G.1
Lissoni, A.2
Beretta, S.3
Terenghi, L.4
Tadeo, G.5
Foglia-Manzillo, G.6
Tagliagambe, L.M.7
Spata, M.8
Santarone, M.9
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13
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77957279899
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Electrocardiographic abnormalities and arrhythmias are strongly associated with the development of cardiomyopathy in muscular dystrophy
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Shah AM, Jefferies JL, Rossano JW, et al. Electrocardiographic abnormalities and arrhythmias are strongly associated with the development of cardiomyopathy in muscular dystrophy. Heart Rhythm 2010;7:1484-8.
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(2010)
Heart Rhythm
, vol.7
, pp. 1484-1488
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Shah, A.M.1
Jefferies, J.L.2
Rossano, J.W.3
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14
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33745573121
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Abnormalities of Diastolic Function Precede Dilated Cardiomyopathy Associated with Duchenne Muscular Dystrophy
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DOI 10.1016/j.echo.2006.02.003, PII S0894731706001957
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Markham LW, Michelfelder EC, Border WL, et al. Abnormalities of diastolic function precede dilated cardiomyopathy associated with Duchenne muscular dystrophy. J Am Soc Echocardiogr 2006;19:865-71. (Pubitemid 43977862)
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(2006)
Journal of the American Society of Echocardiography
, vol.19
, Issue.7
, pp. 865-871
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Markham, L.W.1
Michelfelder, E.C.2
Border, W.L.3
Khoury, P.R.4
Spicer, R.L.5
Wong, B.L.6
Benson, D.W.7
Cripe, L.H.8
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15
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50249163098
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Early regional myocardial dysfunction in young patients with Duchenne muscular dystrophy
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Comprehensive echocardiographic study demonstrating early regional myocardial dysfunction in muscular dystrophy patients using strain imaging
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Mertens L, Ganame J, Claus P, et al. Early regional myocardial dysfunction in young patients with Duchenne muscular dystrophy. J Am Soc Echocardiogr 2008;21:1049-54. Comprehensive echocardiographic study demonstrating early regional myocardial dysfunction in muscular dystrophy patients using strain imaging.
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(2008)
J Am Soc Echocardiogr
, vol.21
, pp. 1049-1054
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Mertens, L.1
Ganame, J.2
Claus, P.3
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16
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27144465838
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Occult cardiac contractile dysfunction in dystrophin-deficient children revealed by cardiac magnetic resonance strain imaging
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DOI 10.1161/CIRCULATIONAHA.104.516716
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Ashford MW Jr, Liu W, Lin SJ, et al. Occult cardiac contractile dysfunction in dystrophin-deficient children revealed by cardiac magnetic resonance strain imaging. Circulation 2005;112:2462-7. (Pubitemid 41504496)
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(2005)
Circulation
, vol.112
, Issue.16
, pp. 2462-2467
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Ashford Jr., M.W.1
Liu, W.2
Lin, S.J.3
Abraszewski, P.4
Caruthers, S.D.5
Connolly, A.M.6
Yu, X.7
Wickline, S.A.8
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17
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34247465031
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Myocardial Delayed Enhancement by Magnetic Resonance Imaging in Patients With Muscular Dystrophy
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DOI 10.1016/j.jacc.2006.10.078, PII S073510970700678X
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Silva MC, Meira ZM, Gurgel GJ, et al. Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy. J Am Coll Cardiol 2007;49:1874-9. The first CMR study that non-invasively showed the distinctive distribution of myocardial scarring (predominantly in the inferolateral wall) in muscular dystrophy patients. (Pubitemid 46661108)
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(2007)
Journal of the American College of Cardiology
, vol.49
, Issue.18
, pp. 1874-1879
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Silva, M.C.1
Meira, Z.M.A.2
Gurgel, G.J.3
Da, S.M.M.4
Oliveira, C.A.F.5
De Melo, B.M.6
Filho, G.M.S.7
De Aguiar, F.R.8
Zatz, M.9
Rochitte, C.E.10
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18
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0037304994
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107th ENMC International Workshop: The management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands
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DOI 10.1016/S0960-8966(02)00213-4
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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;13:166-72. (Pubitemid 36140013)
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(2003)
Neuromuscular Disorders
, vol.13
, Issue.2
, pp. 166-172
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Bushby, K.1
Muntoni, F.2
Bourke, J.P.3
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19
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27844436252
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Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy
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DOI 10.1161/CIRCULATIONAHA.104.528281
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Jefferies JL, Eidem BW, Belmont JW, et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 2005;112:2799-804. (Pubitemid 41641674)
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(2005)
Circulation
, vol.112
, Issue.18
, pp. 2799-2804
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Jefferies, J.L.1
Eidem, B.W.2
Belmont, J.W.3
Craigen, W.J.4
Ware, S.M.5
Fernbach, S.D.6
Neish, S.R.7
Smith, E.O.8
Towbin, J.A.9
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20
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77950479972
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Images in cardiovascular medicine. Cardiomyopathy in a Duchenne muscular dystrophy carrier and her diseased son: Similar pattern revealed by cardiovascular MRI
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Yilmaz A, Gdynia HJ, Ludolph AC, et al. Images in cardiovascular medicine. Cardiomyopathy in a Duchenne muscular dystrophy carrier and her diseased son: similar pattern revealed by cardiovascular MRI. Circulation 2010;121:e237-9.
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(2010)
Circulation
, vol.121
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Yilmaz, A.1
Gdynia, H.J.2
Ludolph, A.C.3
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21
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34447559663
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Metabolic and signaling alterations in dystrophin-deficient hearts precede overt cardiomyopathy
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DOI 10.1016/j.yjmcc.2007.05.015, PII S0022282807010541
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Khairallah M, Khairallah R, Young ME, et al. Metabolic and signalling alterations in dystrophin-deficient hearts precede overt cardiomyopathy. J Mol Cell Cardiol 2007;43:119-29. (Pubitemid 47069387)
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(2007)
Journal of Molecular and Cellular Cardiology
, vol.43
, Issue.2
, pp. 119-129
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Khairallah, M.1
Khairallah, R.2
Young, M.E.3
Dyck, J.R.B.4
Petrof, B.J.5
Des, R.C.6
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22
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80051786337
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The proteoglycandystrophin complex in genetic cardiomyopathies e lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I)
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Yilmaz A, Gdynia HJ, Ponfick M, et al. The proteoglycandystrophin complex in genetic cardiomyopathies e lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I). Clin Res Cardiol 2011;100:611-15.
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(2011)
Clin Res Cardiol
, vol.100
, pp. 611-615
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Yilmaz, A.1
Gdynia, H.J.2
Ponfick, M.3
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23
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77449132523
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Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy
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The first study that evaluated genotypeephenotype associations in muscular dystrophy patients with additional consideration of dystrophin protein structure
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Kaspar RW, Allen HD, Ray WC, et al. Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy. Circ Cardiovasc Genet 2009;2:544-51. The first study that evaluated genotypeephenotype associations in muscular dystrophy patients with additional consideration of dystrophin protein structure.
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(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 544-551
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Kaspar, R.W.1
Allen, H.D.2
Ray, W.C.3
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24
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14844318046
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Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy
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DOI 10.1016/j.jacc.2004.09.078
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Duboc D, Meune C, Lerebours G, et al. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005;45:855-7. The first study that suggested beneficial therapeutic effects of treatment with ACE inhibitors in patients with muscular dystrophy, even in cases of occult cardiomyopathy. (Pubitemid 40342808)
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(2005)
Journal of the American College of Cardiology
, vol.45
, Issue.6
, pp. 855-857
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Duboc, D.1
Meune, C.2
Lerebours, G.3
Devaux, J.-Y.4
Vaksmann, G.5
Becane, H.-M.6
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25
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77949566891
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Clinical outcomes after cardiac transplantation in muscular dystrophy patients
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Wu RS, Gupta S, Brown RN, et al. Clinical outcomes after cardiac transplantation in muscular dystrophy patients. J Heart Lung Transplant 2010;29:432-8.
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(2010)
J Heart Lung Transplant
, vol.29
, pp. 432-438
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Wu, R.S.1
Gupta, S.2
Brown, R.N.3
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26
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74249113948
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Exon skipping with morpholino oligomers: New treatment option for cardiomyopathy in Duchenne muscular dystrophy?
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Bauer R, Katus HA, Muller OJ. Exon skipping with morpholino oligomers: new treatment option for cardiomyopathy in Duchenne muscular dystrophy? Cardiovasc Res 2010;85:409-10.
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(2010)
Cardiovasc Res
, vol.85
, pp. 409-410
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Bauer, R.1
Katus, H.A.2
Muller, O.J.3
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