-
1
-
-
0018934507
-
Echocardiographic evaluation of left ventricular function in Duchenne's muscular dystrophy
-
Farah MG, Evans EB, Vignos PJ Ji Echocardiographic evaluation of left ventricular function in Duchenne's muscular dystrophy. Am J Med 1980;69: 248-54.
-
(1980)
Am J Med
, vol.69
, pp. 248-254
-
-
Farah, M.G.1
Evans, E.B.2
Vignos Ji, P.J.3
-
3
-
-
0020986240
-
Cardiac manifestations of Becker-type muscular dystrophy
-
Vrints C, Mercelis R, Vanagt E, Snoeck J, Martin JJ. Cardiac manifestations of Becker-type muscular dystrophy. Acta Cardiol 1983,38:479-86.
-
(1983)
Acta Cardiol
, vol.38
, pp. 479-486
-
-
Vrints, C.1
Mercelis, R.2
Vanagt, E.3
Snoeck, J.4
Martin, J.J.5
-
4
-
-
0026546173
-
The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy
-
de Visser M, de Voogt WG, la Riviere GV. The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. Muscle Nerve 1992,15.591-6
-
(1992)
Muscle Nerve
, vol.15
, pp. 591-596
-
-
De Visser, M.1
De Voogt, W.G.2
La Riviere, G.V.3
-
5
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman EP, Brown RH Jr, Kunkel LM Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-28
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown Jr., R.H.2
Kunkel, L.M.3
-
6
-
-
0002688858
-
Duchenne and Becker muscular dystrophies
-
Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM, eds Boston: Butterworth-Heinemann
-
Specht LA Kunkel LM. Duchenne and Becker muscular dystrophies. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM, eds The molecular and genetic basis of neurological disease. Boston: Butterworth-Heinemann, 1993:613-31
-
(1993)
The Molecular and Genetic Basis of Neurological Disease
, pp. 613-631
-
-
Specht, L.A.1
Kunkel, L.M.2
-
7
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988,53:219-26.
-
(1988)
Cell
, vol.53
, pp. 219-226
-
-
Koenig, M.1
Monaco, A.P.2
Kunkel, L.M.3
-
8
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti JM, Campbell KP Membrane organization of the dystrophin-glycoprotein complex Cell 1991;66:1121-31
-
(1991)
Cell
, vol.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
9
-
-
0028914964
-
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
-
Campbell KP. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995,80:675-9.
-
(1995)
Cell
, vol.80
, pp. 675-679
-
-
Campbell, K.P.1
-
10
-
-
0027275643
-
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
-
Ervasti JM, Campbell KP A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993;122. 809-23
-
(1993)
J Cell Biol
, vol.122
, pp. 809-823
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
11
-
-
0027481238
-
Duchenne muscular dystrophy: Deficiency of dystrophin-associated proteins in the sarcolemma
-
Ohlendieck K, Matsumura K, Ionasescu VV, et al. Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology 1993,43:795-800.
-
(1993)
Neurology
, vol.43
, pp. 795-800
-
-
Ohlendieck, K.1
Matsumura, K.2
Ionasescu, V.V.3
-
12
-
-
0027432042
-
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin
-
Matsumura K, Nonaka I, Tome FMS, et al. Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin. Am J Hum Genet 1993;53:409-16.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 409-416
-
-
Matsumura, K.1
Nonaka, I.2
Tome, F.M.S.3
-
13
-
-
0027364850
-
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
-
Erratum, Nat Genet 1994,7:113
-
Toda T, Segawa M, Nomura Y, et al Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33 Nat Genet 1993;5:283-6. [Erratum, Nat Genet 1994,7:113 ]
-
(1993)
Nat Genet
, vol.5
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
-
14
-
-
0027458810
-
Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy
-
Matsumura K, Nonaka I, Campbell KP Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet 1993;341:521-2
-
(1993)
Lancet
, vol.341
, pp. 521-522
-
-
Matsumura, K.1
Nonaka, I.2
Campbell, K.P.3
-
15
-
-
0019471880
-
Congenital progressive muscular dystrophy of the Fukuyama type: Clinical, genetic and pathological considerations
-
Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type: clinical, genetic and pathological considerations. Brain Dev 1981;3:1-29.
-
(1981)
Brain Dev
, vol.3
, pp. 1-29
-
-
Fukuyama, Y.1
Osawa, M.2
Suzuki, H.3
-
16
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tome FMS, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency C R Acad Sci III 1994;317.351-7.
-
(1994)
C R Acad Sci III
, vol.317
, pp. 351-357
-
-
Tome, F.M.S.1
Evangelista, T.2
Leclerc, A.3
-
17
-
-
0028094441
-
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
-
Hillaire D, Leclerc A, Faure S, et al Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994,3:1657-61.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1657-1661
-
-
Hillaire, D.1
Leclerc, A.2
Faure, S.3
-
18
-
-
0026757138
-
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
-
Matsumura K, Tome FMS, Collin H, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992,359 320-2
-
(1992)
Nature
, vol.359
, pp. 320-322
-
-
Matsumura, K.1
Tome, F.M.S.2
Collin, H.3
-
19
-
-
0020606260
-
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
-
Ben Hamida M, Fardeau M, Attia N Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia Muscle Nerve 1983,6:469-80.
-
(1983)
Muscle Nerve
, vol.6
, pp. 469-480
-
-
Ben Hamida, M.1
Fardeau, M.2
Attia, N.3
-
20
-
-
0027171297
-
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
-
Azibi K, Bachner L, Beckmann JS, et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12 Hum Mol Genet 1993;2.1423-8
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1423-1428
-
-
Azibi, K.1
Bachner, L.2
Beckmann, J.S.3
-
21
-
-
0027484305
-
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries
-
Fardeau M, Matsumura K, Tome FMS, et al. Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. C R Acad Sci III 1993;316.799-804.
-
(1993)
C R Acad Sci III
, vol.316
, pp. 799-804
-
-
Fardeau, M.1
Matsumura, K.2
Tome, F.M.S.3
-
22
-
-
0028226098
-
Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy
-
Zatz M, Matsumura K, Vainzof M, et al. Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy. J Neurol Sci 1994,123: 122-8.
-
(1994)
J Neurol Sci
, vol.123
, pp. 122-128
-
-
Zatz, M.1
Matsumura, K.2
Vainzof, M.3
-
23
-
-
0027932422
-
Selective defect of sarcoglycan complex in severe autosomal recessive muscular dystrophy muscle
-
Mizuno Y, Noguchi S, Yamamoto H, et al Selective defect of sarcoglycan complex in severe autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Commun 1994;203:979-83
-
(1994)
Biochem Biophys Res Commun
, vol.203
, pp. 979-983
-
-
Mizuno, Y.1
Noguchi, S.2
Yamamoto, H.3
-
24
-
-
0028204126
-
Deficiency of the 50 kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two south Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy
-
Sewry CA, Samsome A, Matsumura K, Campbell KP, Dubowitz V. Deficiency of the 50 kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two south Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy Neuromuscul Disord 1994;4:121-9
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 121-129
-
-
Sewry, C.A.1
Samsome, A.2
Matsumura, K.3
Campbell, K.P.4
Dubowitz, V.5
-
25
-
-
13344288404
-
Adhalin, the 50 kD dystrophin associated protein, is not the locus for severe childhood autosomal recessive dystrophy (SCARMD)
-
abstract
-
McNally EM, Selig S, Kunkel LM. Adhalin, the 50 kD dystrophin associated protein, is not the locus for severe childhood autosomal recessive dystrophy (SCARMD) Am J Hum Genet 1994,55.Suppl:A135 abstract
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
-
-
McNally, E.M.1
Selig, S.2
Kunkel, L.M.3
-
26
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
Roberds SL, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;78 625-33.
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
-
27
-
-
0029319426
-
Primary adhalinopathy, a common cause of autosomal recessive muscular dystrophy of variable severity
-
Piccolo F, Roberds SL, Jeanpierre M, et al. Primary adhalinopathy, a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995,10:243-5.
-
(1995)
Nat Genet
, vol.10
, pp. 243-245
-
-
Piccolo, F.1
Roberds, S.L.2
Jeanpierre, M.3
-
28
-
-
0025272250
-
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
-
Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 1990;345 315-9
-
(1990)
Nature
, vol.345
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
Gaver, M.G.4
Campbell, K.P.5
-
29
-
-
0026328022
-
Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice
-
Ohlendieck K, Campbell KP. Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice J Cell Biol 1991;115:1685-94.
-
(1991)
J Cell Biol
, vol.115
, pp. 1685-1694
-
-
Ohlendieck, K.1
Campbell, K.P.2
-
30
-
-
0000780544
-
The muscle biopsy
-
Engel AG, Franzini-Armstrong C, eds New York: McGraw-Hill
-
Engel AG. The muscle biopsy. In: Engel AG, Franzini-Armstrong C, eds Myology. New York: McGraw-Hill, 1994 822-9.
-
(1994)
Myology
, pp. 822-829
-
-
Engel, A.G.1
-
31
-
-
0027280389
-
Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster
-
Roberds SL, Ervasti JM, Anderson RD, et al. Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster. J Biol Chem 1993; 268:11496-9.
-
(1993)
J Biol Chem
, vol.268
, pp. 11496-11499
-
-
Roberds, S.L.1
Ervasti, J.M.2
Anderson, R.D.3
-
32
-
-
0026656825
-
Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy
-
Palmucci L, Doriguzzi C, Mongini T, et al. Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. J Neurol Sci 1992; 111:218-21.
-
(1992)
J Neurol Sci
, vol.111
, pp. 218-221
-
-
Palmucci, L.1
Doriguzzi, C.2
Mongini, T.3
-
33
-
-
0020085750
-
Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement
-
Nonaka I, Sugita H, Takada K, Kumagai K. Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement. Muscle Nerve 1982;5:102-6.
-
(1982)
Muscle Nerve
, vol.5
, pp. 102-106
-
-
Nonaka, I.1
Sugita, H.2
Takada, K.3
Kumagai, K.4
-
34
-
-
0018392780
-
Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: A kindred
-
Kuhn E, Fiehn W, Schroder JM, Assmus H, Wagner A. Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: a kindred. Neurology 1979;29:1144-9.
-
(1979)
Neurology
, vol.29
, pp. 1144-1149
-
-
Kuhn, E.1
Fiehn, W.2
Schroder, J.M.3
Assmus, H.4
Wagner, A.5
-
35
-
-
0023097550
-
Acute pulmonary edema as the inaugural symptom of Decker's muscular dystrophy in a 19-year old patient
-
Borgeat A, Gay JJ, Sigwart U Acute pulmonary edema as the inaugural symptom of Decker's muscular dystrophy in a 19-year old patient. Clin Cardiol 1987;10:127-9.
-
(1987)
Clin Cardiol
, vol.10
, pp. 127-129
-
-
Borgeat, A.1
Gay, J.J.2
Sigwart, U.3
-
36
-
-
0023723250
-
Cardiac transplantation in Becker muscular dystrophy
-
Casazza F, Brambilla G, Salvato A, Morandi L, Gronda E, Bonacina E Cardiac transplantation in Becker muscular dystrophy. J Neurol 1988;235 496-8
-
(1988)
J Neurol
, vol.235
, pp. 496-498
-
-
Casazza, F.1
Brambilla, G.2
Salvato, A.3
Morandi, L.4
Gronda, E.5
Bonacina, E.6
-
37
-
-
0024411920
-
Cardiac transplantation in a patient with muscular dystrophy and cardiomyopathy
-
Donofrio PD, Challa VR, Hackshaw BT, Mills SA, Cordeli AR. Cardiac transplantation in a patient with muscular dystrophy and cardiomyopathy. Arch Neurol 1989;46:705-7.
-
(1989)
Arch Neurol
, vol.46
, pp. 705-707
-
-
Donofrio, P.D.1
Challa, V.R.2
Hackshaw, B.T.3
Mills, S.A.4
Cordeli, A.R.5
-
38
-
-
0027193330
-
X-linked dilated 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 dilated 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
-
39
-
-
0027265702
-
Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
-
Muntoni F, Cau M, Ganau 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
Ganau, A.3
-
40
-
-
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;16:1161-6.
-
(1993)
Muscle Nerve
, vol.16
, pp. 1161-1166
-
-
Yoshida, K.1
Ikeda, S.2
Nakamura, A.3
-
41
-
-
0027422079
-
Dystrophin analysis in idiopathic dilated cardiomyopathy
-
Michels VV, Pastores GM, Moll PP, 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
|