-
1
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, Hoffman EP, Bertelson CJ, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-517.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
-
2
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivella S, 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
-
3
-
-
0027983715
-
Novel small mutations along the DMD/BMD gene associated with different phenotypes
-
Nigro V, Nigro G, Esposito MG, et al. Novel small mutations along the DMD/BMD gene associated with different phenotypes. Hum Mol Genet 1994;3 (10):1907-1908.
-
(1994)
Hum Mol Genet
, vol.3
, Issue.10
, pp. 1907-1908
-
-
Nigro, V.1
Nigro, G.2
Esposito, M.G.3
-
4
-
-
0028892101
-
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function
-
Nigro V, Bruni P, Ciccodicola A, et al. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol. Genet. 1995;4 (10):2003-2004.
-
(1995)
Hum Mol. Genet.
, vol.4
, Issue.10
, pp. 2003-2004
-
-
Nigro, V.1
Bruni, P.2
Ciccodicola, A.3
-
5
-
-
0029963145
-
A novel X-linked gene, G4.5, is responsible for Barth syndrome
-
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5, is responsible for Barth syndrome. Nat Genet 1996;12:385-389.
-
(1996)
Nat Genet
, vol.12
, pp. 385-389
-
-
Bione, S.1
D'Adamo, P.2
Maestrini, E.3
Gedeon, A.K.4
Bolhuis, P.A.5
Toniolo, D.6
-
6
-
-
9044222886
-
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phospatase family conserved in yeast
-
Laporte J, Hu LJ, Kretz C. et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phospatase family conserved in yeast. Nat Genet 1996;13:175-182.
-
(1996)
Nat Genet
, vol.13
, pp. 175-182
-
-
Laporte, J.1
Hu, L.J.2
Kretz, C.3
-
7
-
-
0028263898
-
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
-
Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 1994;77:869-880.
-
(1994)
Cell
, vol.77
, pp. 869-880
-
-
Ho, M.1
Chelly, J.2
Carter, N.3
Danek, A.4
Crocker, P.5
Monaco, A.P.6
-
8
-
-
0028227820
-
Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: Report of a family
-
Malandrini A, Fabrizi GM, Truschi F, et al. Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. J Neurol Sci 1994;124:89-94.
-
(1994)
J Neurol Sci
, vol.124
, pp. 89-94
-
-
Malandrini, A.1
Fabrizi, G.M.2
Truschi, F.3
-
9
-
-
0028285323
-
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments
-
Muntoni F, Catani G, Mateddu A, et al. Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments. Neuromusc Disord 1994;4:233-242.
-
(1994)
Neuromusc Disord
, vol.4
, pp. 233-242
-
-
Muntoni, F.1
Catani, G.2
Mateddu, A.3
-
10
-
-
0028965355
-
Sarcolemmal indentation in vacuolar myopathy with mental retardation and vacuolar myopathy
-
Murakami N, Goto Y, Itoh M, et al. Sarcolemmal indentation in vacuolar myopathy with mental retardation and vacuolar myopathy. Neuromusc Disord 1995;5:149-155.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 149-155
-
-
Murakami, N.1
Goto, Y.2
Itoh, M.3
-
11
-
-
0026785785
-
Subclinical cardiomyopathy in Becker muscular dystrophy
-
Steare SE, 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
-
12
-
-
0027377342
-
Cardiac involvement in Becker muscular dystrophy
-
Melacini P, Fanin M, Danieli GA, et al. Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol 1993;22:1927-1934.
-
(1993)
J Am Coll Cardiol
, vol.22
, pp. 1927-1934
-
-
Melacini, P.1
Fanin, M.2
Danieli, G.A.3
-
13
-
-
0029055069
-
Dilated cardiomyopathy of muscular dystrophy: A multifaceted approach to management
-
Nigro G, Comi LI, Politano L, Nigro V. Dilated cardiomyopathy of muscular dystrophy: a multifaceted approach to management. Semin Neurol 1995;15 (1):90-92.
-
(1995)
Semin Neurol
, vol.15
, Issue.1
, pp. 90-92
-
-
Nigro, G.1
Comi, L.I.2
Politano, L.3
Nigro, V.4
-
14
-
-
0025017751
-
The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
-
Nigro G, Comi LI, Politano L, Bain RJI. 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.I.4
-
15
-
-
0028819577
-
Evaluation of the cardiomyopathy in Becker muscular dystrophy
-
Nigro G, Comi LI, Politano 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
-
16
-
-
0029971310
-
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
-
Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. J Am Med Assoc 1996;275:1335-1338.
-
(1996)
J Am Med Assoc
, vol.275
, pp. 1335-1338
-
-
Politano, L.1
Nigro, V.2
Nigro, G.3
-
17
-
-
0028914964
-
Three muscular dystrophyes: Loss of cytoskeleton-extracellular matrix linkage
-
Campbell KP. Three muscular dystrophyes: loss of cytoskeleton-extracellular matrix linkage. Cell 1995;80:675-679.
-
(1995)
Cell
, vol.80
, pp. 675-679
-
-
Campbell, K.P.1
-
18
-
-
0027265702
-
Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
-
Muntoni F, Cau M, Congiu R, et al. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 1993;329:921-925.
-
(1993)
N Engl J Med
, vol.329
, pp. 921-925
-
-
Muntoni, F.1
Cau, M.2
Congiu, R.3
-
19
-
-
0027482335
-
Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy
-
Yoshida K, Ikeda S, Nakamura A, et al. Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 1993;16:1161-1166.
-
(1993)
Muscle Nerve
, vol.16
, pp. 1161-1166
-
-
Yoshida, K.1
Ikeda, S.2
Nakamura, A.3
-
20
-
-
0030028518
-
A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
-
Milasin J, Muntoni F, Severini GM, et al. A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet 1996;5:73-79.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 73-79
-
-
Milasin, J.1
Muntoni, F.2
Severini, G.M.3
-
21
-
-
0029114103
-
A mutation in the dystrophin gene specifically affecting dystrophin expression in the heart
-
Muntoni F, Wilson L, Wang Y, et al. A mutation in the dystrophin gene specifically affecting dystrophin expression in the heart. J Clin Invest 1995;96:693-699.
-
(1995)
J Clin Invest
, vol.96
, pp. 693-699
-
-
Muntoni, F.1
Wilson, L.2
Wang, Y.3
-
22
-
-
0026810284
-
Becker muscular dystrophy: Detection of unusual disease courses by combined approach to dystrophin analysis
-
Gold R, Kress W, Meurers B, Meng G, Reichmann H, Muller CR. Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. Muscle Nerve 1992;15:214-218.
-
(1992)
Muscle Nerve
, vol.15
, pp. 214-218
-
-
Gold, R.1
Kress, W.2
Meurers, B.3
Meng, G.4
Reichmann, H.5
Muller, C.R.6
-
23
-
-
0028171138
-
Dilated cardiomyopathy and the dystrophin gene: An illustrated review
-
Oldfors A, Eriksson BO, Kyllerman M, Martinsson T, Wahlstrom J. Dilated cardiomyopathy and the dystrophin gene: an illustrated review. Br Heart J 1994;72:344-348.
-
(1994)
Br Heart J
, vol.72
, pp. 344-348
-
-
Oldfors, A.1
Eriksson, B.O.2
Kyllerman, M.3
Martinsson, T.4
Wahlstrom, J.5
-
24
-
-
0028346292
-
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy
-
Piccolo G, Azan G, Tonin P, et al. Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. Neuromusc Disord 1994;4:143-146.
-
(1994)
Neuromusc Disord
, vol.4
, pp. 143-146
-
-
Piccolo, G.1
Azan, G.2
Tonin, P.3
-
25
-
-
0342728135
-
Genotype-phenotype correlation in patients with deletions of the Duchenne/Becker gene
-
Politano L, Colonna Romano S, Esposito MG, et al. Genotype-phenotype correlation in patients with deletions of the Duchenne/Becker gene. Acta Cardiol 1991;2:239-244.
-
(1991)
Acta Cardiol
, vol.2
, pp. 239-244
-
-
Politano, L.1
Colonna Romano, S.2
Esposito, M.G.3
-
26
-
-
0028132560
-
Mutation of dystrophin gene and cardiomyopathy
-
Nigro G, Politano L, Nigro V, Petretta VR, Comi L. Mutation of dystrophin gene and cardiomyopathy. Neuromusc Disord 1994;4:371-379.
-
(1994)
Neuromusc Disord
, vol.4
, pp. 371-379
-
-
Nigro, G.1
Politano, L.2
Nigro, V.3
Petretta, V.R.4
Comi, L.5
-
28
-
-
85030304790
-
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
-
in press
-
Nigro V, Piluso G, Belsito A, et al. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet, in press.
-
Hum Mol Genet
-
-
Nigro, V.1
Piluso, G.2
Belsito, A.3
-
29
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy (LGMD2F) is caused by a mutation in the delta sarcoglycan gene
-
Nigro V, de Sa Moreira E, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy (LGMD2F) is caused by a mutation in the delta sarcoglycan gene. Nat Genet 1996;14:145-148.
-
(1996)
Nat Genet
, vol.14
, pp. 145-148
-
-
Nigro, V.1
De Sa Moreira, E.2
Piluso, G.3
-
30
-
-
8244259185
-
Identification of the syrian hamster cardiomyopathy gene
-
Nigro V, Okazaki Y, Belsito A, et al. Identification of the syrian hamster cardiomyopathy gene. Hum Mol Genet 1997;6:601-607.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 601-607
-
-
Nigro, V.1
Okazaki, Y.2
Belsito, A.3
-
31
-
-
0027193330
-
X-linked cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
-
Towbin JA, Hejtmancik JF, Brink P, et al. X-linked 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
-
32
-
-
0029101329
-
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene
-
Franz WM, Cremer M, Herrmann R, et al. X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene. Ann NY Acad Sci 1995;752:470-491.
-
(1995)
Ann NY Acad Sci
, vol.752
, pp. 470-491
-
-
Franz, W.M.1
Cremer, M.2
Herrmann, R.3
-
34
-
-
0025126599
-
Cardiac transplantation in female Emery-Dreifuss muscular dystrophy
-
Merchut MP, Zdonczyk D, Gujrati M. Cardiac transplantation in female Emery-Dreifuss muscular dystrophy. J Neurol 1990;237:316-319.
-
(1990)
J Neurol
, vol.237
, pp. 316-319
-
-
Merchut, M.P.1
Zdonczyk, D.2
Gujrati, M.3
-
35
-
-
0025806195
-
Progression of cardiac disease in Emery-Dreifuss muscular dystrophy
-
Bialer MG, McDaniel NL, Kelly TE. 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
-
36
-
-
0023949032
-
Emery-Dreifuss muscular dystrophy: Disease spectrum and differential
-
Voit T, Krogmann O, Lenard HG, Neuen Jacob E, Wechsler W, Goebel HH. Emery-Dreifuss muscular dystrophy: disease spectrum and differential. 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
-
37
-
-
0024582633
-
Follow up study of cardiac involvement in Emery-Dreifuss muscular dystrophy
-
Yoshioka M, Saida K, Itagaki Y, Kamiya T. Follow up study of cardiac involvement in Emery-Dreifuss muscular dystrophy. Arch Dis Child 1989;64:713-715.
-
(1989)
Arch Dis Child
, vol.64
, pp. 713-715
-
-
Yoshioka, M.1
Saida, K.2
Itagaki, Y.3
Kamiya, T.4
-
38
-
-
0023214390
-
Emery-Dreifuss muscular dystrophy. An autopsy case
-
Hara H, Nagara H, Mawatari S, Kondo A, Sato H. Emery-Dreifuss muscular dystrophy. An autopsy case. J Neurol Sci 1987;79:23-31.
-
(1987)
J Neurol Sci
, vol.79
, pp. 23-31
-
-
Hara, H.1
Nagara, H.2
Mawatari, S.3
Kondo, A.4
Sato, H.5
-
39
-
-
0029874852
-
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
-
Nagano A, Koga R, Ogawa M, 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
-
40
-
-
0030940131
-
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of lymphocyte and skin using monoclonal antibodies
-
Manilal S, Sewry CA, Man NT, Muntoni F, Morris GE. Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of lymphocyte and skin using monoclonal antibodies. Neuromusc Disord 1997;7:63-66.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 63-66
-
-
Manilal, S.1
Sewry, C.A.2
Man, N.T.3
Muntoni, F.4
Morris, G.E.5
|