-
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, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
2
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco A, Bertelson C, Liechti-Gallati SHM, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-5.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.1
Bertelson, C.2
Liechti-Gallati, S.H.M.3
Kunkel, L.M.4
-
4
-
-
0013902104
-
The cardiomyopathy of progressive muscular dystrophy
-
Perloff JK, de Leon AC, O'Doherty D. The cardiomyopathy of progressive muscular dystrophy. Circulation 1966;33: 625-48.
-
(1966)
Circulation
, vol.33
, pp. 625-648
-
-
Perloff, J.K.1
De Leon, A.C.2
O'Doherty, D.3
-
5
-
-
0025017751
-
The incidence and evolution of cardiomyopathy in Duchenne and Becker muscular dystrophies
-
Nigro G, Comi L, Politano L, Bain R. The incidence and evolution of cardiomyopathy in Duchenne and Becker muscular dystrophies. Int J Cardiol 1990;26:271-7.
-
(1990)
Int J Cardiol
, vol.26
, pp. 271-277
-
-
Nigro, G.1
Comi, L.2
Politano, L.3
Bain, R.4
-
6
-
-
0026785785
-
Subclinical cardiomyopathy in Becker muscular dystrophy
-
Steare SE, Dubowitz V, Benatar A. Subclinical cardiomyopathy in Becker muscular dystrophy. Br Heart J 1992;68: 304-8.
-
(1992)
Br Heart J
, vol.68
, pp. 304-308
-
-
Steare, S.E.1
Dubowitz, V.2
Benatar, A.3
-
7
-
-
0027377342
-
Cardiac involvement in Becker muscular dystrophy
-
Melacini P, Fanin M, Danieli GA, Fasoli G, Villanova C, Angelini C, et al. Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol 1993;22:1927-34.
-
(1993)
J Am Coll Cardiol
, vol.22
, pp. 1927-1934
-
-
Melacini, P.1
Fanin, M.2
Danieli, G.A.3
Fasoli, G.4
Villanova, C.5
Angelini, C.6
-
8
-
-
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, Gelb B, Zhu XM, Chamberlain JS, et al. X-linked cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993;87:1854-65.
-
(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
-
9
-
-
0027265702
-
Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
-
Muntoni F, Cau M, Congiu R, Ganau A, Arvedi G, Mateddu A, et al. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 1993;329:921-5.
-
(1993)
N Engl J Med
, vol.329
, pp. 921-925
-
-
Muntoni, F.1
Cau, M.2
Congiu, R.3
Ganau, A.4
Arvedi, G.5
Mateddu, A.6
-
10
-
-
0029101329
-
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene
-
Franz WM, Cremer M, Herrmann R, Grünig E, Fogel W, Scheffold T, et al. X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene. Ann N Y Acad Sci 1995; 752:470-91.
-
(1995)
Ann N Y Acad Sci
, vol.752
, pp. 470-491
-
-
Franz, W.M.1
Cremer, M.2
Herrmann, R.3
Grünig, E.4
Fogel, W.5
Scheffold, T.6
-
11
-
-
0030028518
-
A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
-
Yoshida K, Ikeda S, Nakamura A, Kagoshima M, Milasin J, Muntoni F, 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;5:73-9.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 73-79
-
-
Yoshida, K.1
Ikeda, S.2
Nakamura, A.3
Kagoshima, M.4
Milasin, J.5
Muntoni, F.6
-
12
-
-
0027482335
-
Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy
-
Takeda S, Shoji S, Yanagisawa N. Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 1993;16:1161-6.
-
(1993)
Muscle Nerve
, vol.16
, pp. 1161-1166
-
-
Takeda, S.1
Shoji, S.2
Yanagisawa, N.3
-
13
-
-
0028171138
-
Dilated cardiomyopathy and the dystrophin gene: An illustrated review
-
Odfords A, Eriksson BO, Kyllerman M, Martinsson T, Wahlstrom J. Dilated cardiomyopathy and the dystrophin gene: an illustrated review. Br Heart J 1994;72:344-8.
-
(1994)
Br Heart J
, vol.72
, pp. 344-348
-
-
Odfords, A.1
Eriksson, B.O.2
Kyllerman, M.3
Martinsson, T.4
Wahlstrom, J.5
-
14
-
-
0028346292
-
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy
-
Piccolo G, Azan G, Tonin P, Arbustini E, Gavazzi A, Banfi P, et al. Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. Neuromuscul Disord 1994;4:143-6.
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 143-146
-
-
Piccolo, G.1
Azan, G.2
Tonin, P.3
Arbustini, E.4
Gavazzi, A.5
Banfi, P.6
-
15
-
-
0027374166
-
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy
-
Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993;43:2342-5.
-
(1993)
Neurology
, vol.43
, pp. 2342-2345
-
-
Mirabella, M.1
Servidei, S.2
Manfredi, G.3
Ricci, E.4
Frustaci, A.5
Bertini, E.6
-
17
-
-
0027463189
-
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy
-
Muntoni F, Mateddu A, Cianchetti C, Marrosu MG, Cau M, Congiu R, et al. Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy. J Neurol Neurosurg Psychiatry 1993;56: 26-31.
-
(1993)
J Neurol Neurosurg Psychiatry
, vol.56
, pp. 26-31
-
-
Muntoni, F.1
Mateddu, A.2
Cianchetti, C.3
Marrosu, M.G.4
Cau, M.5
Congiu, R.6
-
18
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988;6:11141-56.
-
(1988)
Nucleic Acids Res
, vol.6
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nguyen, P.N.4
Caskey, C.T.5
-
19
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce F, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-8.
-
(1990)
Hum Genet
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.3
Kunkel, L.M.4
-
20
-
-
0023277545
-
Single step method of RNA isolation by acid guanidinium thiocyanate phenol chloroform extraction
-
Chomczynsky P, Sacchi N. Single step method of RNA isolation by acid guanidinium thiocyanate phenol chloroform extraction. Anal Biochem 1987;162:156-9.
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynsky, P.1
Sacchi, N.2
-
21
-
-
0028812128
-
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy
-
Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet 1995;56:151-7.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 151-157
-
-
Muntoni, F.1
Melis, M.A.2
Ganau, A.3
Dubowitz, V.4
-
22
-
-
0027487938
-
Exon skipping and translation in patients with frameshift deletions in the dystrophin gene
-
Sherrat TG, Vulliamy T, Dubowitz V, Sewry CA, Strong P. Exon skipping and translation in patients with frameshift deletions in the dystrophin gene. Am J Hum Genet 1993;53:1007-15.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1007-1015
-
-
Sherrat, T.G.1
Vulliamy, T.2
Dubowitz, V.3
Sewry, C.A.4
Strong, P.5
-
23
-
-
0025750804
-
Localization of dystrophin relative to acetylcholine receptor domains in electric tissue and adult and cultured skeletal muscle
-
Sealock R, Butler MH, Kramarcy NR, Gao KX, Murnane AA, Douville K, et al. Localization of dystrophin relative to acetylcholine receptor domains in electric tissue and adult and cultured skeletal muscle. J Cell Biol 1991;113:133-44.
-
(1991)
J Cell Biol
, vol.113
, pp. 133-144
-
-
Sealock, R.1
Butler, M.H.2
Kramarcy, N.R.3
Gao, K.X.4
Murnane, A.A.5
Douville, K.6
-
24
-
-
0029114103
-
A mutation in the dystrophin gene specifically affecting dystrophin expression in the heart
-
Muntoni F, Wilson L, Wang Y, Marrosu G, Marrosu MG, Cianchetti C, et al. A mutation in the dystrophin gene specifically affecting dystrophin expression in the heart. J Clin Invest 1995;96:693-9.
-
(1995)
J Clin Invest
, vol.96
, pp. 693-699
-
-
Muntoni, F.1
Wilson, L.2
Wang, Y.3
Marrosu, G.4
Marrosu, M.G.5
Cianchetti, C.6
-
25
-
-
0027422079
-
Dystrophin analysis in idiopathic dilated cardiomyopathy
-
Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, et al. Dystrophin analysis in idiopathic dilated cardiomyopathy. J Med Genet 1993;30:955-7.
-
(1993)
J Med Genet
, vol.30
, pp. 955-957
-
-
Michels, V.V.1
Pastores, G.M.2
Moll, P.P.3
Driscoll, D.J.4
Miller, F.A.5
Burnett, J.C.6
-
26
-
-
0025745162
-
Exploring the molecular basis for variability among patients with Becker muscular dystrophy; dystrophin gene and protein studies
-
Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy; dystrophin gene and protein studies. Am J Hum Genet 1991;49:54-67.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 54-67
-
-
Beggs, A.H.1
Hoffman, E.P.2
Snyder, J.R.3
Arahata, K.4
Specht, L.5
Shapiro, F.6
-
27
-
-
0342728135
-
Genotype-phenotype correlation in patients with deletions of the Duchenne/Becker gene
-
Politano L, Colonna Romano S, Esposito MG, Nigro V, Comi LI, Passamano L, et al. Genotype-phenotype correlation in patients with deletions of the Duchenne/Becker gene. Acta Cardiol 1991;2:239-44.
-
(1991)
Acta Cardiol
, vol.2
, pp. 239-244
-
-
Politano, L.1
Colonna Romano, S.2
Esposito, M.G.3
Nigro, V.4
Comi, L.I.5
Passamano, L.6
-
28
-
-
0028132560
-
Mutation of dystrophin gene and cardiomyopathy
-
Nigro G, Politano L, Nigro V, Petretta VR, Comi L. Mutation of dystrophin gene and cardiomyopathy. Neuromuscul Disord 1994;4:371-9.
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 371-379
-
-
Nigro, G.1
Politano, L.2
Nigro, V.3
Petretta, V.R.4
Comi, L.5
-
29
-
-
0027074296
-
Isolation and characterization of different C-terminal fragments of dystrophin expressed in Escherichia coli
-
Milner RE, Bussan JL, Michalak M. Isolation and characterization of different C-terminal fragments of dystrophin expressed in Escherichia coli. Biochem J 1992;288:1037-44.
-
(1992)
Biochem J
, vol.288
, pp. 1037-1044
-
-
Milner, R.E.1
Bussan, J.L.2
Michalak, M.3
-
30
-
-
0030424581
-
Structure and function of the WW domain
-
Sudol M. Structure and function of the WW domain. Prog Biophys Mol Biol 1996;65:113-32.
-
(1996)
Prog Biophys Mol Biol
, vol.65
, pp. 113-132
-
-
Sudol, M.1
-
32
-
-
0026545454
-
Multiple mutation in an extended Duchenne muscular dystrophy family
-
Miciak A, Keen A, Jadayel D, Bundey S. Multiple mutation in an extended Duchenne muscular dystrophy family. J Med Genet 1992;29:123-6.
-
(1992)
J Med Genet
, vol.29
, pp. 123-126
-
-
Miciak, A.1
Keen, A.2
Jadayel, D.3
Bundey, S.4
-
33
-
-
0026549523
-
Two distinct mutations in a single dystrophin gene: Chance occurrence or premutation?
-
Laing NG, Layton MG, Johnsen RD, Chandler DC, Mears ME, Goldblatt J, et al. Two distinct mutations in a single dystrophin gene: chance occurrence or premutation? Am J Med Genet 1992;42:688-92.
-
(1992)
Am J Med Genet
, vol.42
, pp. 688-692
-
-
Laing, N.G.1
Layton, M.G.2
Johnsen, R.D.3
Chandler, D.C.4
Mears, M.E.5
Goldblatt, J.6
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