-
1
-
-
84855629812
-
-
OMIM® Online Mendelian Inheritance in Man. Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
-
OMIM® Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
-
McKusick-Nathans Institute of Genetic Medicine
-
-
-
2
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases - a world survey
-
Emery A.E. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1991, 1:19-29.
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 19-29
-
-
Emery, A.E.1
-
3
-
-
0036895043
-
Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation
-
Eagle M., Baudouin S.V., Chandler C., Giddings D.R., Bullock R., Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 2002, 12:926-929.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 926-929
-
-
Eagle, M.1
Baudouin, S.V.2
Chandler, C.3
Giddings, D.R.4
Bullock, R.5
Bushby, K.6
-
4
-
-
0025729071
-
Prevalence and incidence of Becker muscular dystrophy
-
Bushby K.M., Thambyayah M., Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. Lancet 1991, 337:1022-1024.
-
(1991)
Lancet
, vol.337
, pp. 1022-1024
-
-
Bushby, K.M.1
Thambyayah, M.2
Gardner-Medwin, D.3
-
5
-
-
0017090370
-
Clinical studies in benign (Becker type) X-linked muscular dystrophy
-
Emery A.E., Skinner R. Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Genet 1976, 10:189-201.
-
(1976)
Clin Genet
, vol.10
, pp. 189-201
-
-
Emery, A.E.1
Skinner, R.2
-
6
-
-
0017945481
-
Becker-type muscular dystrophy
-
Bradley W.G., Jones M.Z., Mussini J.M., Fawcett P.R. Becker-type muscular dystrophy. Muscle Nerve 1978, 1:111-132.
-
(1978)
Muscle Nerve
, vol.1
, pp. 111-132
-
-
Bradley, W.G.1
Jones, M.Z.2
Mussini, J.M.3
Fawcett, P.R.4
-
7
-
-
0027537918
-
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history
-
Bushby K.M., Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J Neurol 1993, 240:98-104.
-
(1993)
J Neurol
, vol.240
, pp. 98-104
-
-
Bushby, K.M.1
Gardner-Medwin, D.2
-
8
-
-
0030666305
-
Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period
-
Hoogerwaard E.M., de Voogt W.G., Wilde A.A., van der Wouw P.A., Bakker E., van Ommen G.J., et al. Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period. J Neurol 1997, 244:657-663.
-
(1997)
J Neurol
, vol.244
, pp. 657-663
-
-
Hoogerwaard, E.M.1
de Voogt, W.G.2
Wilde, A.A.3
van der Wouw, P.A.4
Bakker, E.5
van Ommen, G.J.6
-
9
-
-
0027193330
-
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
-
Towbin J.A., Hejtmancik J.F., Brink P., Gelb B., Zhu X.M., Chamberlain J.S., et al. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993, 87:1854-1865.
-
(1993)
Circulation
, vol.87
, pp. 1854-1865
-
-
Towbin, J.A.1
Hejtmancik, J.F.2
Brink, P.3
Gelb, B.4
Zhu, X.M.5
Chamberlain, J.S.6
-
10
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco A.P., Bertelson C.J., Liechti-Gallati S., Moser H., Kunkel L.M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2:90-95.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
Moser, H.4
Kunkel, L.M.5
-
11
-
-
0027460658
-
Dystrophin protects the sarcolemma from stresses developed during muscle contraction
-
Petrof B.J., Shrager J.B., Stedman H.H., Kelly A.M., Sweeney H.L. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci USA 1993, 90:3710-3714.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 3710-3714
-
-
Petrof, B.J.1
Shrager, J.B.2
Stedman, H.H.3
Kelly, A.M.4
Sweeney, H.L.5
-
12
-
-
67149122523
-
Mechanisms of Muscle Degeneration, Regeneration, and Repair in the Muscular Dystrophies
-
Wallace G.Q., McNally E.M. Mechanisms of Muscle Degeneration, Regeneration, and Repair in the Muscular Dystrophies. Annu Rev Physiol 2009, 71:37-57.
-
(2009)
Annu Rev Physiol
, vol.71
, pp. 37-57
-
-
Wallace, G.Q.1
McNally, E.M.2
-
13
-
-
0021361231
-
Cardiac rhythm and conduction in Duchenne's muscular dystrophy: a prospective study of 20 patients
-
Perloff J.K. Cardiac rhythm and conduction in Duchenne's muscular dystrophy: a prospective study of 20 patients. J Am Coll Cardiol 1984, 3:1263-1268.
-
(1984)
J Am Coll Cardiol
, vol.3
, pp. 1263-1268
-
-
Perloff, J.K.1
-
14
-
-
0030992974
-
Cardiac involvement in progressive muscular dystrophy of the Duchenne type
-
Ishikawa K. Cardiac involvement in progressive muscular dystrophy of the Duchenne type. Jpn Heart J 1997, 38:163-180.
-
(1997)
Jpn Heart J
, vol.38
, pp. 163-180
-
-
Ishikawa, K.1
-
15
-
-
0019907223
-
Cardiac conduction abnormalities in children with Duchenne's progressive muscular dystrophy: electrocardiographic features and morphologic correlates
-
Sanyal S.K., Johnson W.W. Cardiac conduction abnormalities in children with Duchenne's progressive muscular dystrophy: electrocardiographic features and morphologic correlates. Circulation 1982, 66:853-863.
-
(1982)
Circulation
, vol.66
, pp. 853-863
-
-
Sanyal, S.K.1
Johnson, W.W.2
-
16
-
-
0025017751
-
The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
-
Nigro G., Comi L.I., Politano L., Bain R.J. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol 1990, 26:271-277.
-
(1990)
Int J Cardiol
, vol.26
, pp. 271-277
-
-
Nigro, G.1
Comi, L.I.2
Politano, L.3
Bain, R.J.4
-
17
-
-
0026440217
-
The prevalence and prognostic significance of arrhythmias in Duchenne type muscular dystrophy
-
Yanagisawa A., Miyagawa M., Yotsukura M., Tsuya T., Shirato C., Ishihara T., et al. The prevalence and prognostic significance of arrhythmias in Duchenne type muscular dystrophy. Am Heart J 1992, 124:1244-1250.
-
(1992)
Am Heart J
, vol.124
, pp. 1244-1250
-
-
Yanagisawa, A.1
Miyagawa, M.2
Yotsukura, M.3
Tsuya, T.4
Shirato, C.5
Ishihara, T.6
-
18
-
-
0027305755
-
Ventricular arrhythmia in Duchenne muscular dystrophy: prevalence, significance and prognosis
-
Chenard A.A., Becane H.M., Tertrain F., de Kermadec J.M., Weiss Y.A. Ventricular arrhythmia in Duchenne muscular dystrophy: prevalence, significance and prognosis. Neuromuscul Disord 1993, 3:201-206.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 201-206
-
-
Chenard, A.A.1
Becane, H.M.2
Tertrain, F.3
de Kermadec, J.M.4
Weiss, Y.A.5
-
19
-
-
33644670773
-
Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy
-
American Academy of Pediatrics
-
American Academy of Pediatrics Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics 2005, 116:1569-1573.
-
(2005)
Pediatrics
, vol.116
, pp. 1569-1573
-
-
-
20
-
-
0036532426
-
Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy
-
Corrado G., Lissoni A., Beretta S., Terenghi L., Tadeo G., Foglia-Manzillo G., 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, 89:838-841.
-
(2002)
Am J Cardiol
, vol.89
, pp. 838-841
-
-
Corrado, G.1
Lissoni, A.2
Beretta, S.3
Terenghi, L.4
Tadeo, G.5
Foglia-Manzillo, G.6
-
21
-
-
14844318046
-
Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy
-
Duboc D., Meune C., Lerebours G., Devaux J.Y., Vaksmann G., Becane H.M. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005, 45:855-857.
-
(2005)
J Am Coll Cardiol
, vol.45
, pp. 855-857
-
-
Duboc, D.1
Meune, C.2
Lerebours, G.3
Devaux, J.Y.4
Vaksmann, G.5
Becane, H.M.6
-
22
-
-
34547934811
-
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up
-
Duboc D., Meune C., Pierre B., Wahbi K., Eymard B., Toutain A., et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J 2007, 154:596-602.
-
(2007)
Am Heart J
, vol.154
, pp. 596-602
-
-
Duboc, D.1
Meune, C.2
Pierre, B.3
Wahbi, K.4
Eymard, B.5
Toutain, A.6
-
23
-
-
33846946114
-
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
-
Cohn R.D., van Erp C., Habashi J.P., Soleimani A.A., Klein E.C., Lisi M.T., 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
Soleimani, A.A.4
Klein, E.C.5
Lisi, M.T.6
-
24
-
-
33846989762
-
ACE inhibitor bulks up muscle
-
Chamberlain J.S. ACE inhibitor bulks up muscle. Nat Med 2007, 13:125-126.
-
(2007)
Nat Med
, vol.13
, pp. 125-126
-
-
Chamberlain, J.S.1
-
25
-
-
0026785785
-
Subclinical cardiomyopathy in Becker muscular dystrophy
-
Steare S.E., Dubowitz V., Benatar A. Subclinical cardiomyopathy in Becker muscular dystrophy. Br Heart J 1992, 68:304-308.
-
(1992)
Br Heart J
, vol.68
, pp. 304-308
-
-
Steare, S.E.1
Dubowitz, V.2
Benatar, A.3
-
26
-
-
0028819577
-
Evaluation of the cardiomyopathy in Becker muscular dystrophy
-
Nigro G., Comi L.I., Politano L., Limongelli F.M., Nigro V., De Rimini M.L., et al. Evaluation of the cardiomyopathy in Becker muscular dystrophy. Muscle Nerve 1995, 18:283-291.
-
(1995)
Muscle Nerve
, vol.18
, pp. 283-291
-
-
Nigro, G.1
Comi, L.I.2
Politano, L.3
Limongelli, F.M.4
Nigro, V.5
De Rimini, M.L.6
-
27
-
-
0029970718
-
Cardiac dysfunction with Becker muscular dystrophy
-
Saito M., Kawai H., Akaike M., Adachi K., Nishida Y., Saito S. Cardiac dysfunction with Becker muscular dystrophy. Am Heart J 1996, 132:642-647.
-
(1996)
Am Heart J
, vol.132
, pp. 642-647
-
-
Saito, M.1
Kawai, H.2
Akaike, M.3
Adachi, K.4
Nishida, Y.5
Saito, S.6
-
28
-
-
8044224015
-
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy
-
Melacini P., Fanin M., Danieli G.A., Villanova C., Martinello F., Miorin M., et al. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 1996, 94:3168-3175.
-
(1996)
Circulation
, vol.94
, pp. 3168-3175
-
-
Melacini, P.1
Fanin, M.2
Danieli, G.A.3
Villanova, C.4
Martinello, F.5
Miorin, M.6
-
29
-
-
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 J.P. 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
-
30
-
-
44349129859
-
Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry
-
Connuck D.M., Sleeper L.A., Colan S.D., Cox G.F., Towbin J.A., Lowe A.M., et al. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J 2008, 155:998-1005.
-
(2008)
Am Heart J
, vol.155
, pp. 998-1005
-
-
Connuck, D.M.1
Sleeper, L.A.2
Colan, S.D.3
Cox, G.F.4
Towbin, J.A.5
Lowe, A.M.6
-
31
-
-
27844436252
-
Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy
-
Jefferies J.L., Eidem B.W., Belmont J.W., Craigen W.J., Ware S.M., Fernbach S.D., et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 2005, 112:2799-2804.
-
(2005)
Circulation
, vol.112
, 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
-
32
-
-
77449132523
-
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy
-
Kaspar R.W., Allen H.D., Ray W.C., Alvarez C.E., Kissel J.T., Pestronk A., et al. Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy. Circ Cardiovasc Genet 2009, 2:544-551.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 544-551
-
-
Kaspar, R.W.1
Allen, H.D.2
Ray, W.C.3
Alvarez, C.E.4
Kissel, J.T.5
Pestronk, A.6
-
33
-
-
0029971310
-
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
-
Politano L., Nigro V., Nigro G., Petretta V.R., Passamano L., Papparella S., et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996, 275:1335-1338.
-
(1996)
JAMA
, vol.275
, pp. 1335-1338
-
-
Politano, L.1
Nigro, V.2
Nigro, G.3
Petretta, V.R.4
Passamano, L.5
Papparella, S.6
-
34
-
-
0037306124
-
Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies
-
Nolan M.A., Jones O.D., Pedersen R.L., Johnston H.M. Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Neuromuscul Disord 2003, 13:129-132.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 129-132
-
-
Nolan, M.A.1
Jones, O.D.2
Pedersen, R.L.3
Johnston, H.M.4
-
35
-
-
0033583984
-
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study
-
Hoogerwaard E.M., Bakker E., Ippel P.F., Oosterwijk J.C., Majoor-Krakauer D.F., Leschot N.J., et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999, 353:2116-2119.
-
(1999)
Lancet
, vol.353
, pp. 2116-2119
-
-
Hoogerwaard, E.M.1
Bakker, E.2
Ippel, P.F.3
Oosterwijk, J.C.4
Majoor-Krakauer, D.F.5
Leschot, N.J.6
-
36
-
-
0033004078
-
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy
-
Hoogerwaard E.M., van der Wouw P.A., Wilde A.A., Bakker E., Ippel P.F., Oosterwijk J.C., et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999, 9:347-351.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 347-351
-
-
Hoogerwaard, E.M.1
van der Wouw, P.A.2
Wilde, A.A.3
Bakker, E.4
Ippel, P.F.5
Oosterwijk, J.C.6
-
37
-
-
0035089639
-
Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls
-
Grain L., Cortina-Borja M., Forfar C., Hilton-Jones D., Hopkin J., Burch M. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 2001, 11:186-191.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 186-191
-
-
Grain, L.1
Cortina-Borja, M.2
Forfar, C.3
Hilton-Jones, D.4
Hopkin, J.5
Burch, M.6
-
38
-
-
17144447073
-
Cardiac transplantation in a Duchenne muscular dystrophy carrier
-
Melacini P., Fanin M., Angelini A., Pegoraro E., Livi U., Danieli G.A., et al. Cardiac transplantation in a Duchenne muscular dystrophy carrier. Neuromuscul Disord 1998, 8:585-590.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 585-590
-
-
Melacini, P.1
Fanin, M.2
Angelini, A.3
Pegoraro, E.4
Livi, U.5
Danieli, G.A.6
-
39
-
-
0034935340
-
Cardiomyopathy in a carrier of Duchenne's muscular dystrophy
-
Davies J.E., Winokur T.S., Aaron M.F., Benza R.L., Foley B.A., Holman W.L. Cardiomyopathy in a carrier of Duchenne's muscular dystrophy. J Heart Lung Transplant 2001, 20:781-784.
-
(2001)
J Heart Lung Transplant
, vol.20
, pp. 781-784
-
-
Davies, J.E.1
Winokur, T.S.2
Aaron, M.F.3
Benza, R.L.4
Foley, B.A.5
Holman, W.L.6
-
40
-
-
42549155295
-
Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland
-
Holloway S.M., Wilcox D.E., Wilcox A., Dean J.C., Berg J.N., Goudie D.R., et al. Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland. Heart 2008, 94:633-636.
-
(2008)
Heart
, vol.94
, pp. 633-636
-
-
Holloway, S.M.1
Wilcox, D.E.2
Wilcox, A.3
Dean, J.C.4
Berg, J.N.5
Goudie, D.R.6
-
41
-
-
0023215347
-
X-linked dilated cardiomyopathy
-
Berko B.A., Swift M. X-linked dilated cardiomyopathy. N Engl J Med 1987, 316:1186-1191.
-
(1987)
N Engl J Med
, vol.316
, pp. 1186-1191
-
-
Berko, B.A.1
Swift, M.2
-
42
-
-
0032966762
-
X-linked dilated cardiomyopathy and the dystrophin gene
-
Ferlini A., Sewry C., Melis M.A., Mateddu A., Muntoni F. X-linked dilated cardiomyopathy and the dystrophin gene. Neuromuscul Disord 1999, 9:339-346.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 339-346
-
-
Ferlini, A.1
Sewry, C.2
Melis, M.A.3
Mateddu, A.4
Muntoni, F.5
-
43
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S., Maestrini E., Rivella S., Mancini M., Regis S., Romeo G., et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994, 8:323-327.
-
(1994)
Nat Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
-
44
-
-
0010397284
-
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
-
Manilal S., Nguyen T.M., Sewry C.A., Morris G.E. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996, 5:801-808.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 801-808
-
-
Manilal, S.1
Nguyen, T.M.2
Sewry, C.A.3
Morris, G.E.4
-
45
-
-
0029874852
-
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
-
Nagano A., Koga R., Ogawa M., Kurano Y., Kawada J., Okada R., et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996, 12:254-259.
-
(1996)
Nat Genet
, vol.12
, pp. 254-259
-
-
Nagano, A.1
Koga, R.2
Ogawa, M.3
Kurano, Y.4
Kawada, J.5
Okada, R.6
-
46
-
-
7144256260
-
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
-
Manilal S., Recan D., Sewry C.A., Hoeltzenbein M., Llense S., Leturcq F., et al. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet 1998, 7:855-864.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 855-864
-
-
Manilal, S.1
Recan, D.2
Sewry, C.A.3
Hoeltzenbein, M.4
Llense, S.5
Leturcq, F.6
-
47
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G., Di Barletta M.R., Varnous S., Becane H.M., Hammouda E.H., Merlini L., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999, 21:285-288.
-
(1999)
Nat Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
Becane, H.M.4
Hammouda, E.H.5
Merlini, L.6
-
48
-
-
0033927867
-
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
-
Raffaele Di Barletta M., Ricci E., Galluzzi G., Tonali P., Mora M., Morandi L., et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000, 66:1407-1412.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1407-1412
-
-
Raffaele Di Barletta, M.1
Ricci, E.2
Galluzzi, G.3
Tonali, P.4
Mora, M.5
Morandi, L.6
-
49
-
-
6944238642
-
Laminopathies: from the heart of the cell to the clinics
-
Benedetti S., Merlini L. Laminopathies: from the heart of the cell to the clinics. Curr Opin Neurol 2004, 17:553-560.
-
(2004)
Curr Opin Neurol
, vol.17
, pp. 553-560
-
-
Benedetti, S.1
Merlini, L.2
-
50
-
-
0033865686
-
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
-
Bonne G., Mercuri E., Muchir A., Urtizberea A., Becane H.M., Recan D., et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000, 48:170-180.
-
(2000)
Ann Neurol
, vol.48
, pp. 170-180
-
-
Bonne, G.1
Mercuri, E.2
Muchir, A.3
Urtizberea, A.4
Becane, H.M.5
Recan, D.6
-
51
-
-
0032901402
-
Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy
-
Manilal S., Sewry C.A., Pereboev A., Man N., Gobbi P., Hawkes S., et al. Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1999, 8:353-359.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 353-359
-
-
Manilal, S.1
Sewry, C.A.2
Pereboev, A.3
Man, N.4
Gobbi, P.5
Hawkes, S.6
-
52
-
-
84855619189
-
-
(Updated 21 November 2007), Copyright, University of Washington, Seattle. Available at [accessed 14 September 2009]; 1997-2009
-
Bonne G, Leturcq F, Récan-Budiartha D, Ben Yaou R. (Updated 21 November 2007). Emery-Dreifuss muscular dystrophy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. Available at [accessed 14 September 2009]; 1997-2009. http://www.genetests.org.
-
Emery-Dreifuss muscular dystrophy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online)
-
-
Bonne, G.1
Leturcq, F.2
Récan-Budiartha, D.3
Ben Yaou, R.4
-
53
-
-
35748935532
-
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
-
Zhang Q., Bethmann C., Worth N.F., Davies J.D., Wasner C., Feuer A., et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007, 16:2816-2833.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2816-2833
-
-
Zhang, Q.1
Bethmann, C.2
Worth, N.F.3
Davies, J.D.4
Wasner, C.5
Feuer, A.6
-
54
-
-
0033083786
-
Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy
-
Tsuchiya Y., Hase A., Ogawa M., Yorifuji H., Arahata K. Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy. Eur J Biochem 1999, 259:859-865.
-
(1999)
Eur J Biochem
, vol.259
, pp. 859-865
-
-
Tsuchiya, Y.1
Hase, A.2
Ogawa, M.3
Yorifuji, H.4
Arahata, K.5
-
55
-
-
24144481867
-
Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells
-
Lammerding J., Hsiao J., Schulze P.C., Kozlov S., Stewart C.L., Lee R.T. Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J Cell Biol 2005, 170:781-791.
-
(2005)
J Cell Biol
, vol.170
, pp. 781-791
-
-
Lammerding, J.1
Hsiao, J.2
Schulze, P.C.3
Kozlov, S.4
Stewart, C.L.5
Lee, R.T.6
-
56
-
-
32644441628
-
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
-
Bakay M., Wang Z., Melcon G., Schiltz L., Xuan J., Zhao P., et al. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 2006, 129:996-1013.
-
(2006)
Brain
, vol.129
, pp. 996-1013
-
-
Bakay, M.1
Wang, Z.2
Melcon, G.3
Schiltz, L.4
Xuan, J.5
Zhao, P.6
-
57
-
-
0016775532
-
Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease
-
Waters D.D., Nutter D.O., Hopkins L.C., Dorney E.R. Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. N Engl J Med 1975, 293:1017-1022.
-
(1975)
N Engl J Med
, vol.293
, pp. 1017-1022
-
-
Waters, D.D.1
Nutter, D.O.2
Hopkins, L.C.3
Dorney, E.R.4
-
58
-
-
0023949032
-
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis
-
Voit T., Krogmann O., Lenard H.G., Neuen-Jacob E., Wechsler W., Goebel H.H., et al. Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics 1988, 19:62-71.
-
(1988)
Neuropediatrics
, vol.19
, pp. 62-71
-
-
Voit, T.1
Krogmann, O.2
Lenard, H.G.3
Neuen-Jacob, E.4
Wechsler, W.5
Goebel, H.H.6
-
59
-
-
0025806195
-
Progression of cardiac disease in Emery-Dreifuss muscular dystrophy
-
Bialer M.G., McDaniel N.L., Kelly T.E. Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. Clin Cardiol 1991, 14:411-416.
-
(1991)
Clin Cardiol
, vol.14
, pp. 411-416
-
-
Bialer, M.G.1
McDaniel, N.L.2
Kelly, T.E.3
-
60
-
-
0027374149
-
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy
-
Fishbein M.C., Siegel R.J., Thompson C.E., Hopkins L.C. Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. Ann Intern Med 1993, 119:900-905.
-
(1993)
Ann Intern Med
, vol.119
, pp. 900-905
-
-
Fishbein, M.C.1
Siegel, R.J.2
Thompson, C.E.3
Hopkins, L.C.4
-
61
-
-
0022531566
-
Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature
-
Merlini L., Granata C., Dominici P., Bonfiglioli S. Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature. Muscle Nerve 1986, 9:481-485.
-
(1986)
Muscle Nerve
, vol.9
, pp. 481-485
-
-
Merlini, L.1
Granata, C.2
Dominici, P.3
Bonfiglioli, S.4
-
62
-
-
0032928462
-
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy
-
Funakoshi M., Tsuchiya Y., Arahata K. Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 1999, 9:108-114.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 108-114
-
-
Funakoshi, M.1
Tsuchiya, Y.2
Arahata, K.3
-
63
-
-
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., Bonne G., Toniolo D., Amati S., 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
Bonne, G.4
Toniolo, D.5
Amati, S.6
-
64
-
-
21544466426
-
High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene
-
Sakata K., Shimizu M., Ino H., Yamaguchi M., Terai H., Fujino N., et al. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation 2005, 111:3352-3358.
-
(2005)
Circulation
, vol.111
, pp. 3352-3358
-
-
Sakata, K.1
Shimizu, M.2
Ino, H.3
Yamaguchi, M.4
Terai, H.5
Fujino, N.6
-
65
-
-
0029994718
-
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement
-
van der Kooi A.J., Ledderhof T.M., de Voogt W.G., Res C.J., Bouwsma G., Troost D., et al. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 1996, 39:636-642.
-
(1996)
Ann Neurol
, vol.39
, pp. 636-642
-
-
van der Kooi, A.J.1
Ledderhof, T.M.2
de Voogt, W.G.3
Res, C.J.4
Bouwsma, G.5
Troost, D.6
-
66
-
-
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., Wolff M.R., Porcu M., Frenneaux M., 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
Wolff, M.R.4
Porcu, M.5
Frenneaux, M.6
-
67
-
-
0033636387
-
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
-
Becane H.M., Bonne G., Varnous S., Muchir A., Ortega V., Hammouda E.H., et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 2000, 23:1661-1666.
-
(2000)
Pacing Clin Electrophysiol
, vol.23
, pp. 1661-1666
-
-
Becane, H.M.1
Bonne, G.2
Varnous, S.3
Muchir, A.4
Ortega, V.5
Hammouda, E.H.6
-
68
-
-
0034620567
-
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
-
Brodsky G.L., Muntoni F., Miocic S., Sinagra G., Sewry C., Mestroni L. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000, 101:473-476.
-
(2000)
Circulation
, vol.101
, pp. 473-476
-
-
Brodsky, G.L.1
Muntoni, F.2
Miocic, S.3
Sinagra, G.4
Sewry, C.5
Mestroni, L.6
-
69
-
-
19944431159
-
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
-
van Berlo J.H., de Voogt W.G., van der Kooi A.J., van Tintelen J.P., Bonne G., Yaou R.B., et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med 2005, 83:79-83.
-
(2005)
J Mol Med
, vol.83
, pp. 79-83
-
-
van Berlo, J.H.1
de Voogt, W.G.2
van der Kooi, A.J.3
van Tintelen, J.P.4
Bonne, G.5
Yaou, R.B.6
-
70
-
-
30444446953
-
Primary prevention of sudden death in patients with lamin A/C gene mutations
-
Meune C., Van Berlo J.H., Anselme F., Bonne G., Pinto Y.M., Duboc D. 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
Bonne, G.4
Pinto, Y.M.5
Duboc, D.6
-
71
-
-
52949111684
-
Long-term outcome and risk stratification in dilated cardiolaminopathies
-
Pasotti M., Klersy C., Pilotto A., Marziliano N., Rapezzi C., Serio 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
Marziliano, N.4
Rapezzi, C.5
Serio, A.6
-
72
-
-
0005933477
-
The limb-girdle muscular dystrophies
-
Royal Society of Medicine Press, London, A.E. Emery (Ed.)
-
Bushby K. The limb-girdle muscular dystrophies. Diagnostic criteria for neuromuscular disorders 1997, 17-22. Royal Society of Medicine Press, London. A.E. Emery (Ed.).
-
(1997)
Diagnostic criteria for neuromuscular disorders
, pp. 17-22
-
-
Bushby, K.1
-
73
-
-
10344253781
-
The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands
-
van der Kooi A.J., Barth P.G., Busch H.F., de Haan R., Ginjaar H.B., van Essen A.J., et al. The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands. Brain 1996, 119(Pt 5):1471-1480.
-
(1996)
Brain
, vol.119
, Issue.PART 5
, pp. 1471-1480
-
-
van der Kooi, A.J.1
Barth, P.G.2
Busch, H.F.3
de Haan, R.4
Ginjaar, H.B.5
van Essen, A.J.6
-
74
-
-
3142717832
-
Limb-girdle muscular dystrophies - from genetics to molecular pathology
-
Laval S.H., Bushby K.M. Limb-girdle muscular dystrophies - from genetics to molecular pathology. Neuropathol Appl Neurobiol 2004, 30:91-105.
-
(2004)
Neuropathol Appl Neurobiol
, vol.30
, pp. 91-105
-
-
Laval, S.H.1
Bushby, K.M.2
-
75
-
-
0031920515
-
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
-
Minetti C., Sotgia F., Bruno C., Scartezzini P., Broda P., Bado M., et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998, 18:365-368.
-
(1998)
Nat Genet
, vol.18
, pp. 365-368
-
-
Minetti, C.1
Sotgia, F.2
Bruno, C.3
Scartezzini, P.4
Broda, P.5
Bado, M.6
-
76
-
-
0036916438
-
Myotilin Mutation found in second pedigree with LGMD1A
-
Hauser M.A., Conde C.B., Kowaljow V., Zeppa G., Taratuto A.L., Torian U.M., et al. Myotilin Mutation found in second pedigree with LGMD1A. Am J Hum Genet 2002, 71:1428-1432.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1428-1432
-
-
Hauser, M.A.1
Conde, C.B.2
Kowaljow, V.3
Zeppa, G.4
Taratuto, A.L.5
Torian, U.M.6
-
77
-
-
0030882270
-
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23
-
Messina D.N., Speer M.C., Pericak-Vance M.A., McNally E.M. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 1997, 61:909-917.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 909-917
-
-
Messina, D.N.1
Speer, M.C.2
Pericak-Vance, M.A.3
McNally, E.M.4
-
78
-
-
0034641599
-
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions
-
Crosbie R.H., Lim L.E., Moore S.A., Hirano M., Hays A.P., Maybaum S.W., et al. Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Hum Mol Genet 2000, 9:2019-2027.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2019-2027
-
-
Crosbie, R.H.1
Lim, L.E.2
Moore, S.A.3
Hirano, M.4
Hays, A.P.5
Maybaum, S.W.6
-
79
-
-
0032567420
-
Assembly of the sarcoglycan complex. Insights for muscular dystrophy
-
Holt K.H., Campbell K.P. Assembly of the sarcoglycan complex. Insights for muscular dystrophy. J Biol Chem 1998, 273:34667-34670.
-
(1998)
J Biol Chem
, vol.273
, pp. 34667-34670
-
-
Holt, K.H.1
Campbell, K.P.2
-
80
-
-
0030784953
-
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations
-
Fanin M., Duggan D.J., Mostacciuolo M.L., Martinello F., Freda M.P., Soraru G., et al. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet 1997, 34:973-977.
-
(1997)
J Med Genet
, vol.34
, pp. 973-977
-
-
Fanin, M.1
Duggan, D.J.2
Mostacciuolo, M.L.3
Martinello, F.4
Freda, M.P.5
Soraru, G.6
-
81
-
-
0031128814
-
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)
-
Duggan D.J., Manchester D., Stears K.P., Mathews D.J., Hart C., Hoffman E.P. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics 1997, 1:49-58.
-
(1997)
Neurogenetics
, vol.1
, pp. 49-58
-
-
Duggan, D.J.1
Manchester, D.2
Stears, K.P.3
Mathews, D.J.4
Hart, C.5
Hoffman, E.P.6
-
82
-
-
0033559299
-
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
-
Vainzof M., Passos-Bueno M.R., Pavanello R.C., Marie S.K., Oliveira A.S., Zatz M. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. J Neurol Sci 1999, 164:44-49.
-
(1999)
J Neurol Sci
, vol.164
, pp. 44-49
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Pavanello, R.C.3
Marie, S.K.4
Oliveira, A.S.5
Zatz, M.6
-
83
-
-
0030951089
-
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
-
Eymard B., Romero N.B., Leturcq F., Piccolo F., Carrie A., Jeanpierre M., et al. Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997, 48:1227-1234.
-
(1997)
Neurology
, vol.48
, pp. 1227-1234
-
-
Eymard, B.1
Romero, N.B.2
Leturcq, F.3
Piccolo, F.4
Carrie, A.5
Jeanpierre, M.6
-
84
-
-
0030792467
-
Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects
-
Barresi R., Confalonieri V., Lanfossi M., Di Blasi C., Torchiana E., Mantegazza R., et al. Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects. Acta Neuropathol 1997, 94:28-35.
-
(1997)
Acta Neuropathol
, vol.94
, pp. 28-35
-
-
Barresi, R.1
Confalonieri, V.2
Lanfossi, M.3
Di Blasi, C.4
Torchiana, E.5
Mantegazza, R.6
-
85
-
-
0032898847
-
The clinical spectrum of sarcoglycanopathies
-
Angelini C., Fanin M., Freda M.P., Duggan D.J., Siciliano G., Hoffman E.P. The clinical spectrum of sarcoglycanopathies. Neurology 1999, 52:176-179.
-
(1999)
Neurology
, vol.52
, pp. 176-179
-
-
Angelini, C.1
Fanin, M.2
Freda, M.P.3
Duggan, D.J.4
Siciliano, G.5
Hoffman, E.P.6
-
86
-
-
0032912836
-
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations
-
Melacini P., Fanin M., Duggan D.J., Freda M.P., Berardinelli A., Danieli G.A., et al. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations. Muscle Nerve 1999, 22:473-479.
-
(1999)
Muscle Nerve
, vol.22
, pp. 473-479
-
-
Melacini, P.1
Fanin, M.2
Duggan, D.J.3
Freda, M.P.4
Berardinelli, A.5
Danieli, G.A.6
-
87
-
-
0035097338
-
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies
-
Politano L., Nigro V., Passamano L., Petretta V., Comi L.I., Papparella S., et al. Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromuscul Disord 2001, 11:178-185.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 178-185
-
-
Politano, L.1
Nigro, V.2
Passamano, L.3
Petretta, V.4
Comi, L.I.5
Papparella, S.6
-
88
-
-
0034063935
-
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations
-
Barresi R., Di Blasi C., Negri T., Brugnoni R., Vitali A., Felisari G., et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Genet 2000, 37:102-107.
-
(2000)
J Med Genet
, vol.37
, pp. 102-107
-
-
Barresi, R.1
Di Blasi, C.2
Negri, T.3
Brugnoni, R.4
Vitali, A.5
Felisari, G.6
-
89
-
-
0043028307
-
LGMD2E patients risk developing dilated cardiomyopathy
-
Fanin M., Melacini P., Boito C., Pegoraro E., Angelini C. LGMD2E patients risk developing dilated cardiomyopathy. Neuromuscul Disord 2003, 13:303-309.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 303-309
-
-
Fanin, M.1
Melacini, P.2
Boito, C.3
Pegoraro, E.4
Angelini, C.5
-
90
-
-
18244375299
-
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
-
Brockington M., Yuva Y., Prandini P., Brown S.C., Torelli S., Benson M.A., et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001, 10:2851-2859.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
-
91
-
-
3042850663
-
-
Beltran-Valero de Bernabe D., Voit T., Longman C., Steinbrecher A., Straub V., Yuva Y., et al. J Med Genet 2004, 41:e61.
-
(2004)
J Med Genet
, vol.41
-
-
Beltran-Valero de Bernabe, D.1
Voit, T.2
Longman, C.3
Steinbrecher, A.4
Straub, V.5
Yuva, Y.6
-
93
-
-
0037380737
-
Phenotypic spectrum associated with mutations in the fukutin-related protein gene
-
Mercuri E., Brockington M., Straub V., Quijano-Roy S., Yuva Y., Herrmann R., et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 2003, 53:537-542.
-
(2003)
Ann Neurol
, vol.53
, pp. 537-542
-
-
Mercuri, E.1
Brockington, M.2
Straub, V.3
Quijano-Roy, S.4
Yuva, Y.5
Herrmann, R.6
-
94
-
-
9144248503
-
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
-
Poppe M., Bourke J., Eagle M., Frosk P., Wrogemann K., Greenberg C., et al. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 2004, 56:738-741.
-
(2004)
Ann Neurol
, vol.56
, pp. 738-741
-
-
Poppe, M.1
Bourke, J.2
Eagle, M.3
Frosk, P.4
Wrogemann, K.5
Greenberg, C.6
-
95
-
-
28944454254
-
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I
-
Boito C.A., Melacini P., Vianello A., Prandini P., Gavassini B.F., Bagattin A., et al. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol 2005, 62:1894-1899.
-
(2005)
Arch Neurol
, vol.62
, pp. 1894-1899
-
-
Boito, C.A.1
Melacini, P.2
Vianello, A.3
Prandini, P.4
Gavassini, B.F.5
Bagattin, A.6
-
96
-
-
51649084872
-
Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy
-
Sveen M.L., Thune J.J., Kober L., Vissing J. Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy. Arch Neurol 2008, 65:1196-1201.
-
(2008)
Arch Neurol
, vol.65
, pp. 1196-1201
-
-
Sveen, M.L.1
Thune, J.J.2
Kober, L.3
Vissing, J.4
-
97
-
-
48749108191
-
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study
-
Wahbi K., Meune C., Hamouda el H., Stojkovic T., Laforet P., Becane H.M., et al. Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord 2008, 18:650-655.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 650-655
-
-
Wahbi, K.1
Meune, C.2
Hamouda el, H.3
Stojkovic, T.4
Laforet, P.5
Becane, H.M.6
-
98
-
-
0032849889
-
66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands
-
Beckmann J.S., Brown R.H., Muntoni F., Urtizberea A., Bonnemann C., Bushby K.M. 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands. Neuromuscul Disord 1999, 9:436-445.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 436-445
-
-
Beckmann, J.S.1
Brown, R.H.2
Muntoni, F.3
Urtizberea, A.4
Bonnemann, C.5
Bushby, K.M.6
-
99
-
-
77953466492
-
Cardiac diseases in sarcoglycanopathies
-
Fayssoil A. Cardiac diseases in sarcoglycanopathies. Int J Cardiol 2009.
-
(2009)
Int J Cardiol
-
-
Fayssoil, A.1
-
101
-
-
0024390849
-
Anticipation in myotonic dystrophy: fact or fiction?
-
Höweler C.J., Busch H.F., Geraedts J.P., Niermeijer M.F., Staal A. Anticipation in myotonic dystrophy: fact or fiction?. Brain 1989, 112:779-797.
-
(1989)
Brain
, vol.112
, pp. 779-797
-
-
Höweler, C.J.1
Busch, H.F.2
Geraedts, J.P.3
Niermeijer, M.F.4
Staal, A.5
-
102
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley H.G., Rundle S.A., MacMillan J.C., Myring J., Brook J.D., Crow S., et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993, 52:1164-1174.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1164-1174
-
-
Harley, H.G.1
Rundle, S.A.2
MacMillan, J.C.3
Myring, J.4
Brook, J.D.5
Crow, S.6
-
103
-
-
0033549032
-
A 10-year study of mortality in a cohort of patients with myotonic dystrophy
-
Mathieu J., Allard P., Potvin L., Prevost C., Begin P. A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999, 52:1658-1662.
-
(1999)
Neurology
, vol.52
, pp. 1658-1662
-
-
Mathieu, J.1
Allard, P.2
Potvin, L.3
Prevost, C.4
Begin, P.5
-
104
-
-
2642612786
-
Age and causes of death in adult-onset myotonic dystrophy
-
de Die-Smulders C.E., Höweler C.J., Thijs C., Mirandolle J.F., Anten H.B., Smeets H.J., et al. Age and causes of death in adult-onset myotonic dystrophy. Brain 1998, 121:1557-1563.
-
(1998)
Brain
, vol.121
, pp. 1557-1563
-
-
de Die-Smulders, C.E.1
Höweler, C.J.2
Thijs, C.3
Mirandolle, J.F.4
Anten, H.B.5
Smeets, H.J.6
-
105
-
-
45549084293
-
Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1
-
Groh W.J., Groh M.R., Saha C., Kincaid J.C., Simmons Z., Ciafaloni E., et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 2008, 358:2688-2697.
-
(2008)
N Engl J Med
, vol.358
, pp. 2688-2697
-
-
Groh, W.J.1
Groh, M.R.2
Saha, C.3
Kincaid, J.C.4
Simmons, Z.5
Ciafaloni, E.6
-
106
-
-
0027122152
-
-
Brook J.D., McCurrach M.E., Harley H.G., Buckler A.J., Church D., Aburatani H., et al. Cell 1992, 69:385.
-
(1992)
Cell
, vol.69
, pp. 385
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
-
107
-
-
0033822947
-
Progressive atrioventricular conduction block in a mouse myotonic dystrophy model
-
Berul C.I., Maguire C.T., Gehrmann J., Reddy S. Progressive atrioventricular conduction block in a mouse myotonic dystrophy model. J Interv Card Electrophysiol 2000, 4:351-358.
-
(2000)
J Interv Card Electrophysiol
, vol.4
, pp. 351-358
-
-
Berul, C.I.1
Maguire, C.T.2
Gehrmann, J.3
Reddy, S.4
-
108
-
-
0030845879
-
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
-
Klesert T.R., Otten A.D., Bird T.D., Tapscott S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet 1997, 16:402-406.
-
(1997)
Nat Genet
, vol.16
, pp. 402-406
-
-
Klesert, T.R.1
Otten, A.D.2
Bird, T.D.3
Tapscott, S.J.4
-
109
-
-
2342461060
-
Myotonic dystrophy: RNA pathogenesis comes into focus
-
Ranum L.P., Day J.W. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 2004, 74:793-804.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 793-804
-
-
Ranum, L.P.1
Day, J.W.2
-
110
-
-
65349118185
-
Large CTG repeats trigger p16-dependent premature senescence in myotonic dystrophy type 1 muscle precursor cells
-
Bigot A., Klein A.F., Gasnier E., Jacquemin V., Ravassard P., Butler-Browne G., et al. Large CTG repeats trigger p16-dependent premature senescence in myotonic dystrophy type 1 muscle precursor cells. Am J Pathol 2009, 174:1435-1442.
-
(2009)
Am J Pathol
, vol.174
, pp. 1435-1442
-
-
Bigot, A.1
Klein, A.F.2
Gasnier, E.3
Jacquemin, V.4
Ravassard, P.5
Butler-Browne, G.6
-
111
-
-
8844224764
-
Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1
-
Bassez G., Lazarus A., Desguerre I., Varin J., Laforet P., Becane H.M., et al. Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology 2004, 63:1939-1941.
-
(2004)
Neurology
, vol.63
, pp. 1939-1941
-
-
Bassez, G.1
Lazarus, A.2
Desguerre, I.3
Varin, J.4
Laforet, P.5
Becane, H.M.6
-
112
-
-
0031022134
-
Cardiac disease in myotonic dystrophy
-
Phillips M.F., Harper P.S. Cardiac disease in myotonic dystrophy. Cardiovasc Res 1997, 33:13-22.
-
(1997)
Cardiovasc Res
, vol.33
, pp. 13-22
-
-
Phillips, M.F.1
Harper, P.S.2
-
113
-
-
0025971551
-
Myotonic heart disease: a clinical follow-up
-
Hawley R.J., Milner M.R., Gottdiener J.S., Cohen A. Myotonic heart disease: a clinical follow-up. Neurology 1991, 41:259-262.
-
(1991)
Neurology
, vol.41
, pp. 259-262
-
-
Hawley, R.J.1
Milner, M.R.2
Gottdiener, J.S.3
Cohen, A.4
-
114
-
-
0027996370
-
Cardiac involvement in myotonic dystrophy
-
Fragola P.V., Luzi M., Calo L., Antonini G., Borzi M., Frongillo D., et al. Cardiac involvement in myotonic dystrophy. Am J Cardiol 1994, 74:1070-1072.
-
(1994)
Am J Cardiol
, vol.74
, pp. 1070-1072
-
-
Fragola, P.V.1
Luzi, M.2
Calo, L.3
Antonini, G.4
Borzi, M.5
Frongillo, D.6
-
115
-
-
0037032260
-
Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: a multicenter diagnostic pacemaker study
-
Lazarus A., Varin J., Babuty D., Anselme F., Coste J., Duboc D. Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: a multicenter diagnostic pacemaker study. J Am Coll Cardiol 2002, 40:1645-1652.
-
(2002)
J Am Coll Cardiol
, vol.40
, pp. 1645-1652
-
-
Lazarus, A.1
Varin, J.2
Babuty, D.3
Anselme, F.4
Coste, J.5
Duboc, D.6
-
116
-
-
0033514985
-
Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy
-
Lazarus A., Varin J., Ounnoughene Z., Radvanyi H., Junien C., Coste J., et al. Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. Circulation 1999, 99:1041-1046.
-
(1999)
Circulation
, vol.99
, pp. 1041-1046
-
-
Lazarus, A.1
Varin, J.2
Ounnoughene, Z.3
Radvanyi, H.4
Junien, C.5
Coste, J.6
-
117
-
-
0023853927
-
Pathology of the cardiac conduction system in myotonic dystrophy: a study of 12 cases
-
Nguyen H.H., Wolfe J.T., Holmes D.R., Edwards W.D. Pathology of the cardiac conduction system in myotonic dystrophy: a study of 12 cases. J Am Coll Cardiol 1988, 11:662-671.
-
(1988)
J Am Coll Cardiol
, vol.11
, pp. 662-671
-
-
Nguyen, H.H.1
Wolfe, J.T.2
Holmes, D.R.3
Edwards, W.D.4
-
118
-
-
0029147034
-
Cardiac involvement in patients with myotonic dystrophy: characteristic features of magnetic resonance imaging
-
De Ambroggi L., Raisaro A., Marchiano V., Radice S., Meola G. Cardiac involvement in patients with myotonic dystrophy: characteristic features of magnetic resonance imaging. Eur Heart J 1995, 16:1007-1010.
-
(1995)
Eur Heart J
, vol.16
, pp. 1007-1010
-
-
De Ambroggi, L.1
Raisaro, A.2
Marchiano, V.3
Radice, S.4
Meola, G.5
-
119
-
-
0842304407
-
Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I
-
Bhakta D., Lowe M.R., Groh W.J. Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I. Am Heart J 2004, 147:224-227.
-
(2004)
Am Heart J
, vol.147
, pp. 224-227
-
-
Bhakta, D.1
Lowe, M.R.2
Groh, W.J.3
-
120
-
-
0003759053
-
The heart in myotonic disease
-
Orndahl G., Thulesius O., Enestroem S., Dehlin O. The heart in myotonic disease. Acta Med Scand 1964, 176:479-491.
-
(1964)
Acta Med Scand
, vol.176
, pp. 479-491
-
-
Orndahl, G.1
Thulesius, O.2
Enestroem, S.3
Dehlin, O.4
-
121
-
-
53749101578
-
Sudden death in myotonic dystrophy
-
[author reply 1328-29]
-
Hermans M.C., Faber C.G., Pinto Y.M. Sudden death in myotonic dystrophy. N Engl J Med 2008, 359:1626-1628. [author reply 1328-29].
-
(2008)
N Engl J Med
, vol.359
, pp. 1626-1628
-
-
Hermans, M.C.1
Faber, C.G.2
Pinto, Y.M.3
-
122
-
-
0142027590
-
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
-
Bachinski L.L., Udd B., Meola G., Sansone V., Bassez G., Eymard B., et al. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet 2003, 73:835-848.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 835-848
-
-
Bachinski, L.L.1
Udd, B.2
Meola, G.3
Sansone, V.4
Bassez, G.5
Eymard, B.6
-
123
-
-
0037465516
-
Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum
-
Day J.W., Ricker K., Jacobsen J.F., Rasmussen L.J., Dick K.A., Kress W., et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003, 60:657-664.
-
(2003)
Neurology
, vol.60
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
Rasmussen, L.J.4
Dick, K.A.5
Kress, W.6
-
124
-
-
8744295714
-
Myotonic dystrophy type 2 and related myotonic disorders
-
Meola G., Moxley R.T. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol 2004, 251:1173-1182.
-
(2004)
J Neurol
, vol.251
, pp. 1173-1182
-
-
Meola, G.1
Moxley, R.T.2
-
125
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori C.L., Ricker K., Moseley M.L., Jacobsen J.F., Kress W., Naylor S.L., et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001, 293:864-867.
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
-
126
-
-
34548072824
-
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2
-
Botta A., Vallo L., Rinaldi F., Bonifazi E., Amati F., Biancolella M., et al. Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. Gene Expr 2007, 13:339-351.
-
(2007)
Gene Expr
, vol.13
, pp. 339-351
-
-
Botta, A.1
Vallo, L.2
Rinaldi, F.3
Bonifazi, E.4
Amati, F.5
Biancolella, M.6
-
127
-
-
67649635616
-
Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: A case control study
-
Wahbi K., Meune C., Becane H.M., Laforet P., Bassez G., Lazarus A., et al. Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: A case control study. Neuromuscul Disord 2009, 19:468-472.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 468-472
-
-
Wahbi, K.1
Meune, C.2
Becane, H.M.3
Laforet, P.4
Bassez, G.5
Lazarus, A.6
-
128
-
-
0031809933
-
Cardiac involvement in proximal myotonic myopathy
-
von zur Muhlen F., Klass C., Kreuzer H., Mall G., Giese A., Reimers C.D. Cardiac involvement in proximal myotonic myopathy. Heart 1998, 79:619-621.
-
(1998)
Heart
, vol.79
, pp. 619-621
-
-
von zur Muhlen, F.1
Klass, C.2
Kreuzer, H.3
Mall, G.4
Giese, A.5
Reimers, C.D.6
-
129
-
-
11144303455
-
Sudden cardiac death in myotonic dystrophy type 2
-
Schoser B.G., Ricker K., Schneider-Gold C., Hengstenberg C., Durre J., Bultmann B., et al. Sudden cardiac death in myotonic dystrophy type 2. Neurology 2004, 63:2402-2404.
-
(2004)
Neurology
, vol.63
, pp. 2402-2404
-
-
Schoser, B.G.1
Ricker, K.2
Schneider-Gold, C.3
Hengstenberg, C.4
Durre, J.5
Bultmann, B.6
-
130
-
-
27644489708
-
Female patient with proximal myotonic myopathy and ventricular tachycardia
-
Schenk S., Loscher S., Mickley F., Hartmann A. Female patient with proximal myotonic myopathy and ventricular tachycardia. Z Kardiol 2005, 94:754-760.
-
(2005)
Z Kardiol
, vol.94
, pp. 754-760
-
-
Schenk, S.1
Loscher, S.2
Mickley, F.3
Hartmann, A.4
-
131
-
-
33745105633
-
140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management
-
Udd B., Meola G., Krahe R., Thornton C., Ranum L.P., Bassez G., et al. 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscul Disord 2006, 16:403-413.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 403-413
-
-
Udd, B.1
Meola, G.2
Krahe, R.3
Thornton, C.4
Ranum, L.P.5
Bassez, G.6
-
132
-
-
0036049412
-
Myotonic dystrophy type 2
-
Finsterer J. Myotonic dystrophy type 2. Eur J Neurol 2002, 9:441-447.
-
(2002)
Eur J Neurol
, vol.9
, pp. 441-447
-
-
Finsterer, J.1
-
133
-
-
0030022392
-
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy
-
Mostacciuolo M.L., Miorin M., Martinello F., Angelini C., Perini P., Trevisan C.P. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 1996, 97:277-279.
-
(1996)
Hum Genet
, vol.97
, pp. 277-279
-
-
Mostacciuolo, M.L.1
Miorin, M.2
Martinello, F.3
Angelini, C.4
Perini, P.5
Trevisan, C.P.6
-
134
-
-
0036227621
-
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)
-
Allamand V., Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet 2002, 10:91-94.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 91-94
-
-
Allamand, V.1
Guicheney, P.2
-
135
-
-
0034162666
-
The Fukuyama congenital muscular dystrophy story
-
Toda T., Kobayashi K., Kondo-Iida E., Sasaki J., Nakamura Y. The Fukuyama congenital muscular dystrophy story. Neuromuscul Disord 2000, 10:153-159.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 153-159
-
-
Toda, T.1
Kobayashi, K.2
Kondo-Iida, E.3
Sasaki, J.4
Nakamura, Y.5
-
136
-
-
33745310936
-
Cardiac involvement in Fukuyama-type congenital muscular dystrophy
-
Nakanishi T., Sakauchi M., Kaneda Y., Tomimatsu H., Saito K., Nakazawa M., et al. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics 2006, 117:e1187-1192.
-
(2006)
Pediatrics
, vol.117
-
-
Nakanishi, T.1
Sakauchi, M.2
Kaneda, Y.3
Tomimatsu, H.4
Saito, K.5
Nakazawa, M.6
-
137
-
-
0035212037
-
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
-
Brockington M., Blake D.J., Prandini P., Brown S.C., Torelli S., Benson M.A., et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001, 69:1198-1209.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1198-1209
-
-
Brockington, M.1
Blake, D.J.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
-
138
-
-
0030220589
-
41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands
-
Dubowitz V. 41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands. Neuromuscul Disord 1996, 6:295-306.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 295-306
-
-
Dubowitz, V.1
-
139
-
-
0031713348
-
Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy
-
Spyrou N., Philpot J., Foale R., Camici P.G., Muntoni F. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. Am Heart J 1998, 136:474-476.
-
(1998)
Am Heart J
, vol.136
, pp. 474-476
-
-
Spyrou, N.1
Philpot, J.2
Foale, R.3
Camici, P.G.4
Muntoni, F.5
-
140
-
-
15844365639
-
Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis
-
Fardeau M., Tome F.M., Helbling-Leclerc A., Evangelista T., Ottolini A., Chevallay M., et al. Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis. Rev Neurol (Paris) 1996, 152:11-19.
-
(1996)
Rev Neurol (Paris)
, vol.152
, pp. 11-19
-
-
Fardeau, M.1
Tome, F.M.2
Helbling-Leclerc, A.3
Evangelista, T.4
Ottolini, A.5
Chevallay, M.6
-
141
-
-
0027688211
-
The life spans, cause of death and pathological findings of Fukuyama type congenital muscular dystrophy-analysis of 24 autopsy cases
-
Mukoyama M., Hizawa K., Kagawa N., Takahashi K. The life spans, cause of death and pathological findings of Fukuyama type congenital muscular dystrophy-analysis of 24 autopsy cases. Rinsho Shinkeigaku 1993, 33:1154-1156.
-
(1993)
Rinsho Shinkeigaku
, vol.33
, pp. 1154-1156
-
-
Mukoyama, M.1
Hizawa, K.2
Kagawa, N.3
Takahashi, K.4
-
142
-
-
0032055028
-
44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands
-
Lunt P.W. 44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands. Neuromuscul Disord 1998, 8:126-130.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 126-130
-
-
Lunt, P.W.1
-
143
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2kb tandemly repeated unit
-
van Deutekom J.C., Wijmenga C., van Tienhoven E.A., Gruter A.M., Hewitt J.E., Padberg G.W., et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2kb tandemly repeated unit. Hum Mol Genet 1993, 2:2037-2042.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2037-2042
-
-
van Deutekom, J.C.1
Wijmenga, C.2
van Tienhoven, E.A.3
Gruter, A.M.4
Hewitt, J.E.5
Padberg, G.W.6
-
144
-
-
0025034639
-
Facioscapulohumeral muscular dystrophy: evidence for selective, genetic electrophysiologic cardiac involvement
-
Stevenson W.G., Perloff J.K., Weiss J.N., Anderson T.L. Facioscapulohumeral muscular dystrophy: evidence for selective, genetic electrophysiologic cardiac involvement. J Am Coll Cardiol 1990, 15:292-299.
-
(1990)
J Am Coll Cardiol
, vol.15
, pp. 292-299
-
-
Stevenson, W.G.1
Perloff, J.K.2
Weiss, J.N.3
Anderson, T.L.4
-
145
-
-
0026546173
-
The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy
-
de Visser M., de Voogt W.G., la Riviere G.V. The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. Muscle Nerve 1992, 15:591-596.
-
(1992)
Muscle Nerve
, vol.15
, pp. 591-596
-
-
de Visser, M.1
de Voogt, W.G.2
la Riviere, G.V.3
-
146
-
-
0031743597
-
Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy
-
Laforet P., de Toma C., Eymard B., Becane H.M., Jeanpierre M., Fardeau M., et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998, 51:1454-1456.
-
(1998)
Neurology
, vol.51
, pp. 1454-1456
-
-
Laforet, P.1
de Toma, C.2
Eymard, B.3
Becane, H.M.4
Jeanpierre, M.5
Fardeau, M.6
-
147
-
-
33748493420
-
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia
-
Trevisan C.P., Pastorello E., Armani M., Angelini C., Nante G., Tomelleri G., et al. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. European neurology 2006, 56:1-5.
-
(2006)
European neurology
, vol.56
, pp. 1-5
-
-
Trevisan, C.P.1
Pastorello, E.2
Armani, M.3
Angelini, C.4
Nante, G.5
Tomelleri, G.6
-
148
-
-
53549117700
-
Myofibrillar myopathies
-
Selcen D. Myofibrillar myopathies. Curr Opin Neurol 2008, 21:585-589.
-
(2008)
Curr Opin Neurol
, vol.21
, pp. 585-589
-
-
Selcen, D.1
-
149
-
-
68849104798
-
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease
-
Goldfarb L.G., Dalakas M.C. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 2009, 119:1806-1813.
-
(2009)
J Clin Invest
, vol.119
, pp. 1806-1813
-
-
Goldfarb, L.G.1
Dalakas, M.C.2
-
150
-
-
17344361902
-
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
-
Vicart P., Caron A., Guicheney P., Li Z., Prevost M.C., Faure A., et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998, 20:92-95.
-
(1998)
Nat Genet
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
Li, Z.4
Prevost, M.C.5
Faure, A.6
-
151
-
-
0344664368
-
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations
-
Selcen D., Engel A.G. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol 2003, 54:804-810.
-
(2003)
Ann Neurol
, vol.54
, pp. 804-810
-
-
Selcen, D.1
Engel, A.G.2
-
152
-
-
60849131479
-
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
-
Selcen D., Muntoni F., Burton B.K., Pegoraro E., Sewry C., Bite A.V., et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol 2009, 65:83-89.
-
(2009)
Ann Neurol
, vol.65
, pp. 83-89
-
-
Selcen, D.1
Muntoni, F.2
Burton, B.K.3
Pegoraro, E.4
Sewry, C.5
Bite, A.V.6
-
153
-
-
0032701867
-
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q
-
Melberg A., Oldfors A., Blomstrom-Lundqvist C., Stalberg E., Carlsson B., Larrson E., 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
Stalberg, E.4
Carlsson, B.5
Larrson, E.6
-
154
-
-
34250861423
-
Zaspopathy in a large classic late-onset distal myopathy family
-
Griggs R., Vihola A., Hackman P., Talvinen K., Haravuori H., Faulkner G., et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007, 130:1477-1484.
-
(2007)
Brain
, vol.130
, pp. 1477-1484
-
-
Griggs, R.1
Vihola, A.2
Hackman, P.3
Talvinen, K.4
Haravuori, H.5
Faulkner, G.6
-
155
-
-
17044440789
-
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
-
Nishino I., Fu J., Tanji K., Yamada T., Shimojo S., Koori T., et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000, 406:906-910.
-
(2000)
Nature
, vol.406
, pp. 906-910
-
-
Nishino, I.1
Fu, J.2
Tanji, K.3
Yamada, T.4
Shimojo, S.5
Koori, T.6
-
156
-
-
0028965355
-
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy
-
Murakami N., Goto Y., Itoh M., Katsumi Y., Wada T., Ozawa E., et al. Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. Neuromuscul Disord 1995, 5:149-155.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 149-155
-
-
Murakami, N.1
Goto, Y.2
Itoh, M.3
Katsumi, Y.4
Wada, T.5
Ozawa, E.6
-
157
-
-
0037172851
-
Clinicopathological features of genetically confirmed Danon disease
-
Sugie K., Yamamoto A., Murayama K., Oh S.J., Takahashi M., Mora M., et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002, 58:1773-1778.
-
(2002)
Neurology
, vol.58
, pp. 1773-1778
-
-
Sugie, K.1
Yamamoto, A.2
Murayama, K.3
Oh, S.J.4
Takahashi, M.5
Mora, M.6
-
158
-
-
33748424435
-
Cardiac and clinical phenotype in Barth syndrome
-
Spencer C.T., Bryant R.M., Day J., Gonzalez I.L., Colan S.D., Thompson W.R., et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006, 118:e337-346.
-
(2006)
Pediatrics
, vol.118
-
-
Spencer, C.T.1
Bryant, R.M.2
Day, J.3
Gonzalez, I.L.4
Colan, S.D.5
Thompson, W.R.6
-
159
-
-
0035202829
-
McLeod neuroacanthocytosis: genotype and phenotype
-
Danek A., Rubio J.P., Rampoldi L., Ho M., Dobson-Stone C., Tison F., et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 2001, 50:755-764.
-
(2001)
Ann Neurol
, vol.50
, pp. 755-764
-
-
Danek, A.1
Rubio, J.P.2
Rampoldi, L.3
Ho, M.4
Dobson-Stone, C.5
Tison, F.6
-
160
-
-
38749121773
-
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1
-
Windpassinger C., Schoser B., Straub V., Hochmeister S., Noor A., Lohberger B., et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008, 82:88-99.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 88-99
-
-
Windpassinger, C.1
Schoser, B.2
Straub, V.3
Hochmeister, S.4
Noor, A.5
Lohberger, B.6
-
161
-
-
60149106395
-
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
-
Schessl J., Taratuto A.L., Sewry C., Battini R., Chin S.S., Maiti B., et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 2009, 132:452-464.
-
(2009)
Brain
, vol.132
, pp. 452-464
-
-
Schessl, J.1
Taratuto, A.L.2
Sewry, C.3
Battini, R.4
Chin, S.S.5
Maiti, B.6
-
162
-
-
34247620197
-
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy
-
Carmignac V., Salih M.A., Quijano-Roy S., Marchand S., Al Rayess M.M., Mukhtar M.M., et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007, 61:340-351.
-
(2007)
Ann Neurol
, vol.61
, pp. 340-351
-
-
Carmignac, V.1
Salih, M.A.2
Quijano-Roy, S.3
Marchand, S.4
Al Rayess, M.M.5
Mukhtar, M.M.6
-
163
-
-
34249084665
-
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation
-
Overeem S., Schelhaas H.J., Blijham P.J., Grootscholten M.I., ter Laak H.J., Timmermans J., et al. Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. Neuromuscul Disord 2007, 17:490-493.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 490-493
-
-
Overeem, S.1
Schelhaas, H.J.2
Blijham, P.J.3
Grootscholten, M.I.4
ter Laak, H.J.5
Timmermans, J.6
-
164
-
-
59149107091
-
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation
-
Uro-Coste E., Arne-Bes M.C., Pellissier J.F., Richard P., Levade T., Heitz F., et al. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. Neuromuscul Disord 2009, 19:163-166.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 163-166
-
-
Uro-Coste, E.1
Arne-Bes, M.C.2
Pellissier, J.F.3
Richard, P.4
Levade, T.5
Heitz, F.6
-
165
-
-
55349084415
-
Update on the management of Duchenne muscular dystrophy
-
Manzur A.Y., Kinali M., Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008, 93:986-990.
-
(2008)
Arch Dis Child
, vol.93
, pp. 986-990
-
-
Manzur, A.Y.1
Kinali, M.2
Muntoni, F.3
-
167
-
-
0037443583
-
Effects of deflazacort on left ventricular function in patients with Duchenne muscular dystrophy
-
Silversides C.K., Webb G.D., Harris V.A., Biggar D.W. Effects of deflazacort on left ventricular function in patients with Duchenne muscular dystrophy. Am J Cardiol 2003, 91:769-772.
-
(2003)
Am J Cardiol
, vol.91
, pp. 769-772
-
-
Silversides, C.K.1
Webb, G.D.2
Harris, V.A.3
Biggar, D.W.4
-
168
-
-
66249136309
-
Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy
-
Bauer R., Straub V., Blain A., Bushby K., MacGowan G.A. Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. Eur J Heart Fail 2009, 11:463-471.
-
(2009)
Eur J Heart Fail
, vol.11
, pp. 463-471
-
-
Bauer, R.1
Straub, V.2
Blain, A.3
Bushby, K.4
MacGowan, G.A.5
-
169
-
-
36249019783
-
New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials
-
Cossu G., Sampaolesi M. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. Trends Mol Med 2007, 13:520-526.
-
(2007)
Trends Mol Med
, vol.13
, pp. 520-526
-
-
Cossu, G.1
Sampaolesi, M.2
-
170
-
-
53049100021
-
Myotonic dystrophy: therapeutic strategies for the future
-
Wheeler T.M. Myotonic dystrophy: therapeutic strategies for the future. Neurotherapeutics 2008, 5:592-600.
-
(2008)
Neurotherapeutics
, vol.5
, pp. 592-600
-
-
Wheeler, T.M.1
|