-
1
-
-
0037160782
-
The muscular dystrophies
-
DOI 10.1016/S0140-6736(02)07815-7
-
A.E. Emery The muscular dystrophies Lancet 359 2002 687 695 (Pubitemid 34203773)
-
(2002)
Lancet
, vol.359
, Issue.9307
, pp. 687-695
-
-
Emery, A.E.H.1
-
2
-
-
71749114728
-
Mutational spectrum of DMD mutations in dystrophinopathy patients: Application of modern diagnostic techniques to a large cohort
-
United Dystrophinopathy Project Consortium, Weiss RB
-
K.M. Flanigan, D.M. Dunn, A. von Niederhausern, P. Soltanzadeh, E. Gappmaier, M.T. Howard, J.B. Sampson, J.R. Mendell, C. Wall, W.M. King, A. Pestronk, J.M. Florence, A.M. Connolly, K.D. Mathews, C.M. Stephan, K.S. Laubenthal, B.L. Wong, P.J. Morehart, A. Meyer, R.S. Finkel, C.G. Bonnemann, L. Medne, J.W. Day, J.C. Dalton, M.K. Margolis, V.J. Hinton United Dystrophinopathy Project Consortium, Weiss RB Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort Hum Mutat 30 2009 1657 1666
-
(2009)
Hum Mutat
, vol.30
, pp. 1657-1666
-
-
Flanigan, K.M.1
Dunn, D.M.2
Von Niederhausern, A.3
Soltanzadeh, P.4
Gappmaier, E.5
Howard, M.T.6
Sampson, J.B.7
Mendell, J.R.8
Wall, C.9
King, W.M.10
Pestronk, A.11
Florence, J.M.12
Connolly, A.M.13
Mathews, K.D.14
Stephan, C.M.15
Laubenthal, K.S.16
Wong, B.L.17
Morehart, P.J.18
Meyer, A.19
Finkel, R.S.20
Bonnemann, C.G.21
Medne, L.22
Day, J.W.23
Dalton, J.C.24
Margolis, M.K.25
Hinton, V.J.26
more..
-
3
-
-
20144389134
-
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort
-
DOI 10.1002/ajmg.a.30617
-
K.M. Dent, D.M. Dunn, A.C. von Niederhausern, A.T. Aoyagi, L. Kerr, M.B. Bromberg, K.J. Hart, T. Tuohy, S. White, J.T. den Dunnen, R.B. Weiss, and K.M. Flanigan Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort Am J Med Genet A 134 2005 295 298 (Pubitemid 40470622)
-
(2005)
American Journal of Medical Genetics
, vol.134
, Issue.3
, pp. 295-298
-
-
Dent, K.M.1
Dunn, D.M.2
Von Niederhausern, A.C.3
Aoyagi, A.T.4
Kerr, L.5
Bromberg, M.B.6
Hart, K.J.7
Tuohy, T.8
White, S.9
Den Dunnen, J.T.10
Weiss, R.B.11
Flanigan, K.M.12
-
4
-
-
23844539257
-
Experience and strategy for the molecular testing of Duchenne muscular dystrophy
-
T.W. Prior, and S.J. Bridgeman Experience and strategy for the molecular testing of Duchenne muscular dystrophy J Mol Diagn 7 2005 317 326 (Pubitemid 41149646)
-
(2005)
Journal of Molecular Diagnostics
, vol.7
, Issue.3
, pp. 317-326
-
-
Prior, T.W.1
Bridgeman, S.J.2
-
5
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
E. Hoffman, R. Brown, and L. Kunkel Dystrophin: the protein product of the Duchenne muscular dystrophy locus Cell 51 1987 919 928
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.1
Brown, R.2
Kunkel, L.3
-
6
-
-
0036895043
-
Survival in Duchenne muscular dystrophy: Improvements in life expectancy since 1967 and the impact of home nocturnal ventilation
-
DOI 10.1016/S0960-8966(02)00140-2, PII S0960896602001402
-
M. Eagle, S.V. Baudouin, C. Chandler, D.R. Giddings, R. Bullock, and K. Bushby Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation Neuromuscul Disord 12 2002 926 929 (Pubitemid 35408673)
-
(2002)
Neuromuscular Disorders
, vol.12
, Issue.10
, pp. 926-929
-
-
Eagle, M.1
Baudouin, S.V.2
Chandler, C.3
Giddings, D.R.4
Bullock, R.5
Bushby, K.6
-
7
-
-
0017122869
-
The pathology of the heart in progressive muscular dystrophy: Epimyocardial fibrosis
-
K.A. Frankel, and R.J. Rosser The pathology of the heart in progressive muscular dystrophy: epimyocardial fibrosis Hum Pathol 7 1976 375 386
-
(1976)
Hum Pathol
, vol.7
, pp. 375-386
-
-
Frankel, K.A.1
Rosser, R.J.2
-
8
-
-
0014056078
-
The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. An electrocardiographic-pathologic correlative study
-
J.K. Perloff, W.L. Roberts, A.C. deLeon Jr., and D. O'Doherty The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. An electrocardiographic-pathologic correlative study Am J Med 42 1967 179 188
-
(1967)
Am J Med
, vol.42
, pp. 179-188
-
-
Perloff, J.K.1
Roberts, W.L.2
Deleon, Jr.A.C.3
O'Doherty, D.4
-
9
-
-
0031845263
-
Sequential changes in cardiac structure and function in patients with Duchenne type muscular dystrophy: A two-dimensional echocardiographic study
-
DOI 10.1016/S0002-8703(98)70057-2
-
K. Sasaki, K. Sakata, E. Kachi, S. Hirata, T. Ishihara, and K. Ishikawa Sequential changes in cardiac structure and function in patients with Duchenne type muscular dystrophy: a two-dimensional echocardiographic study Am Heart J 135 1998 937 944 (Pubitemid 28316988)
-
(1998)
American Heart Journal
, vol.135
, Issue.6
, pp. 937-944
-
-
Sasaki, K.1
Sakata, K.2
Kachi, E.3
Hirata, S.4
Ishihara, T.5
Ishikawa, K.6
-
10
-
-
56949095053
-
Late gadolinium enhancement: Precursor to cardiomyopathy in Duchenne muscular dystrophy?
-
M.D. Puchalski, R.V. Willliams, B. Askovich, C.T. Sower, K.H. Hor, J.T. Su, and N. Pack Late gadolinium enhancement: precursor to cardiomyopathy in Duchenne muscular dystrophy? Int J Cardiovasc Imaging 25 2009 57 63
-
(2009)
Int J Cardiovasc Imaging
, vol.25
, pp. 57-63
-
-
Puchalski, M.D.1
Willliams, R.V.2
Askovich, B.3
Sower, C.T.4
Hor, K.H.5
Su, J.T.6
Pack, N.7
-
11
-
-
0037276860
-
The heart in human dystrophinopathies
-
DOI 10.1159/000068446
-
J. Finsterer, and C. Stollberger The heart in human dystrophinopathies Cardiology 99 2003 1 19 (Pubitemid 36206630)
-
(2003)
Cardiology
, vol.99
, Issue.1
, pp. 1-19
-
-
Finsterer, J.1
Stollberger, C.2
-
12
-
-
0025017751
-
The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
-
DOI 10.1016/0167-5273(90)90082-G
-
G. Nigro, L.I. Comi, L. Politano, and R.J. Bain The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy Int J Cardiol 26 1990 271 277 (Pubitemid 20061348)
-
(1990)
International Journal of Cardiology
, vol.26
, Issue.3
, pp. 271-277
-
-
Nigro, G.1
Comi, L.I.2
Politano, L.3
Bain, R.J.I.4
-
13
-
-
0028132560
-
Mutation of dystrophin gene and cardiomyopathy
-
DOI 10.1016/0960-8966(94)90073-6
-
G. Nigro, L. Politano, V. Nigro, V.R. Peteretta, and L.I. Comi Mutation of dystrophin gene and cardiomyopathy Neuromuscul Disord 4 1994 371 379 (Pubitemid 24280934)
-
(1994)
Neuromuscular Disorders
, vol.4
, Issue.4
, pp. 371-379
-
-
Nigro, G.1
Politano, L.2
Nigro, V.3
Petretta, V.R.4
Comi, L.I.5
-
14
-
-
27844436252
-
Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy
-
DOI 10.1161/CIRCULATIONAHA.104.528281
-
J.L. Jefferies, B.W. Eidem, J.W. Belmont, W.J. Craigen, S.M. Ware, S.D. Fernbach, S.R. Neish, E.O. Smith, and J.A. Towbin Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy Circulation 112 2005 2799 2804 (Pubitemid 41641674)
-
(2005)
Circulation
, vol.112
, Issue.18
, pp. 2799-2804
-
-
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
-
15
-
-
63049083149
-
Circumferential strain analysis identifies strata of cardiomyopathy in Duchenne muscular dystrophy. A cardiac magnetic resonance tagging study
-
K.N. Hor, J. Wansapura, L.W. Markham, W. Mazur, L.H. Cripe, R. Fleck, W. Benson, and W.M. Gottliebson Circumferential strain analysis identifies strata of cardiomyopathy in Duchenne muscular dystrophy. A cardiac magnetic resonance tagging study J Am Coll Cardiol 53 2009 1204 1210
-
(2009)
J Am Coll Cardiol
, vol.53
, pp. 1204-1210
-
-
Hor, K.N.1
Wansapura, J.2
Markham, L.W.3
Mazur, W.4
Cripe, L.H.5
Fleck, R.6
Benson, W.7
Gottliebson, W.M.8
-
16
-
-
0038639602
-
Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy
-
DOI 10.1016/S0735-1097(03)00581-3
-
V. Giglio, V. Pasceri, L. Messano, Q. Parisi, G. Rinelli, L. Pasquini, A.D. Russo, A. Damiani, M. Mirabella, G. Galluzzi, P. Tonali, and E. Ricci Ultrasound tissue characterization predicts preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy J Am Coll Cardiol 42 2003 309 316 (Pubitemid 36851423)
-
(2003)
Journal of the American College of Cardiology
, vol.42
, Issue.2
, pp. 309-316
-
-
Giglio, V.1
Pasceri, V.2
Messano, L.3
Mangiola, F.4
Pasquini, L.5
Dello Russo, A.6
Damiani, A.7
Mirabella, M.8
Galluzzi, G.9
Tonali, P.10
Ricci, E.11
-
17
-
-
20444407621
-
Contribution of Doppler tissue imaging and myocardial performance index to assessment of left ventricular function in patients with Duchenne's muscular dystrophy
-
DOI 10.1016/j.echo.2004.10.003, PII S0894731704009253
-
R.C. Bahler, T. Mohyuddin, R.S. Finkelhor, and I.B. Jacobs Contribution of Doppler tissue imaging and myocardial performance index to assessment of left ventricular function in patients with Duchenne's muscular dystrophy J Am Soc Echocardiogr 19 2005 666 673 (Pubitemid 40798455)
-
(2005)
Journal of the American Society of Echocardiography
, vol.18
, Issue.6
, pp. 666-673
-
-
Bahler, R.C.1
Mohyuddin, T.2
Finkelhor, R.S.3
Jacobs, I.B.4
-
18
-
-
0342728135
-
Genotype-phenotype correlation in patients with deletions of Duchenne/Becker gene
-
L. Politano, S. Colonna-Ramano, M.G. Esposito, V. Nigro, L.I. Comi, L. Passamano, and G. Nigro Genotype-phenotype correlation in patients with deletions of Duchenne/Becker gene Acta Cardiomyologica 3 1991 239 244
-
(1991)
Acta Cardiomyologica
, vol.3
, pp. 239-244
-
-
Politano, L.1
Colonna-Ramano, S.2
Esposito, M.G.3
Nigro, V.4
Comi, L.I.5
Passamano, L.6
Nigro, G.7
-
19
-
-
0026754688
-
The heart in Duchenne muscular dystrophy: A non-invasive longitudinal study
-
E. Backman, and E. Nylander The heart in Duchenne muscular dystrophy: a non-invasive longitudinal study Eur Heart J 228 1993 1239 1244
-
(1993)
Eur Heart J
, vol.228
, pp. 1239-1244
-
-
Backman, E.1
Nylander, E.2
-
20
-
-
58149464820
-
Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy
-
P.R. Thrush, H.D. Allen, L. Viollet, and J.R. Mendell Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy Am J Cardiol 103 2009 262 265
-
(2009)
Am J Cardiol
, vol.103
, pp. 262-265
-
-
Thrush, P.R.1
Allen, H.D.2
Viollet, L.3
Mendell, J.R.4
-
21
-
-
1042269555
-
Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy
-
DOI 10.1007/s00439-003-1041-2
-
M. Sifringer, B. Uhlenberg, S. Lammel, R. Hanke, B. Neumann, A. Von Moers, I. Koch, and A. Spear Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy Hum Genet 114 2004 149 156 (Pubitemid 38195341)
-
(2004)
Human Genetics
, vol.114
, Issue.2
, pp. 149-156
-
-
Sifringer, M.1
Uhlenberg, B.2
Lammel, S.3
Hanke, R.4
Neumann, B.5
Von Moers, A.6
Koch, I.7
Speer, A.8
-
22
-
-
77956315258
-
Cardiac and pulmonary function variability in Duchenne/Becker muscular dystrophy: An initial report
-
D.J. Birnkrant, M.L. Ashwath, G.H. Noritz, M.C. Merrill, T.A. Shah, C.A. Crowe, and R.C. Bahler Cardiac and pulmonary function variability in Duchenne/Becker muscular dystrophy: an initial report J Child Neurol 25 2010 1110 1115
-
(2010)
J Child Neurol
, vol.25
, pp. 1110-1115
-
-
Birnkrant, D.J.1
Ashwath, M.L.2
Noritz, G.H.3
Merrill, M.C.4
Shah, T.A.5
Crowe, C.A.6
Bahler, R.C.7
-
23
-
-
84887212371
-
Clinical heterogeneity of Duchenne muscular dystrophy (DMD): Definition of sub-phenotypes and predictive criteria by long-term follow-up
-
I. Desguerre, C. Christov, M. Mayer, R. Zeller, H.M. Becane, S. Bastuji-Garin, F. Leturcq, C. Chiron, J. Chelly, and R.K. Gherardi Clinical heterogeneity of Duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up PLoS One 4 2009 e4347
-
(2009)
PLoS One
, vol.4
, pp. 4347
-
-
Desguerre, I.1
Christov, C.2
Mayer, M.3
Zeller, R.4
Becane, H.M.5
Bastuji-Garin, S.6
Leturcq, F.7
Chiron, C.8
Chelly, J.9
Gherardi, R.K.10
-
24
-
-
78751634526
-
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
-
E. Pegoraro, E.P. Hoffman, L. Piva, B.F. Gavassini, S. Cagnin, M. Ermani, L. Bello, G. Soraru, B. Pacchioni, M.D. Bonifati, G. Lanfranchi, C. Angelini, A. Kesari, I. Lee, H. Gordish-Dressman, J.M. Devaney, and C.M. McDonald SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy Neurology 76 2011 219 226
-
(2011)
Neurology
, vol.76
, pp. 219-226
-
-
Pegoraro, E.1
Hoffman, E.P.2
Piva, L.3
Gavassini, B.F.4
Cagnin, S.5
Ermani, M.6
Bello, L.7
Soraru, G.8
Pacchioni, B.9
Bonifati, M.D.10
Lanfranchi, G.11
Angelini, C.12
Kesari, A.13
Lee, I.14
Gordish-Dressman, H.15
Devaney, J.M.16
McDonald, C.M.17
-
25
-
-
33746709342
-
Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy
-
DOI 10.1253/circj.70.991
-
H. Kajimoto, K. Ishigaki, K. Okumura, H. Tomimatsu, M. Nakazawa, K. Saito, M. Osawa, and T. Nakanishi Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy Circ J 70 2006 991 994 (Pubitemid 44161734)
-
(2006)
Circulation Journal
, vol.70
, Issue.8
, pp. 991-994
-
-
Kajimoto, H.1
Ishigaki, K.2
Okumura, K.3
Tomimatsu, H.4
Nakazawa, M.5
Saito, K.6
Osawa, M.7
Nakanishi, T.8
-
26
-
-
14844318046
-
Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy
-
DOI 10.1016/j.jacc.2004.09.078
-
D. Duboc, C. Meune, G. Lerebours, J.Y. Devaux, G. Vaksmann, and H.M. Bécane Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy J Am Coll Cardiol 45 2005 855 857 (Pubitemid 40342808)
-
(2005)
Journal of the American College of Cardiology
, vol.45
, Issue.6
, pp. 855-857
-
-
Duboc, D.1
Meune, C.2
Lerebours, G.3
Devaux, J.-Y.4
Vaksmann, G.5
Becane, H.-M.6
-
27
-
-
38949092529
-
Deflazacort Use in Duchenne Muscular Dystrophy: An 8-Year Follow-Up
-
DOI 10.1016/j.pediatrneurol.2007.11.001, PII S0887899407005541
-
S. Houde, M. Filiatrault, A. Fournier, J. Dubé, S. D'Arcy, D. Bérubé, Y. Brousseau, G. Lapierre, and M. Vannasse Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up Pediatr Neurol 38 2008 200 206 (Pubitemid 351221232)
-
(2008)
Pediatric Neurology
, vol.38
, Issue.3
, pp. 200-206
-
-
Houde, S.1
Filiatrault, M.2
Fournier, A.3
Dube, J.4
D'Arcy, S.5
Berube, D.6
Brousseau, Y.7
Lapierre, G.8
Vanasse, M.9
-
28
-
-
84875444308
-
All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy
-
G. Schram, A. Fournier, H. Leduc, N. Dahdah, J. Therien, M. Vanasse, and P. Khairy All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy J Am Coll Cardiol 61 2013 948 954
-
(2013)
J Am Coll Cardiol
, vol.61
, pp. 948-954
-
-
Schram, G.1
Fournier, A.2
Leduc, H.3
Dahdah, N.4
Therien, J.5
Vanasse, M.6
Khairy, P.7
-
29
-
-
31144470666
-
Steroid therapy and cardiac function in duchenne muscular dystrophy
-
DOI 10.1007/s00246-005-0909-4
-
L.W. Markham, R.L. Spicer, P.R. Khoury, B.L. Wong, K.D. Mathews, and L.H. Cripe Steroid therapy and cardiac function in Duchenne muscular dystrophy Pediatr Cardio 26 2005 768 771 (Pubitemid 43130167)
-
(2005)
Pediatric Cardiology
, vol.26
, Issue.6
, pp. 768-771
-
-
Markham, L.W.1
Spicer, R.L.2
Khoury, P.R.3
Wong, B.L.4
Mathews, K.D.5
Cripe, L.H.6
|