-
1
-
-
0000042975
-
On the classification, natural history and treatment of the myopathies
-
Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954;77:169-231.
-
(1954)
Brain
, vol.77
, pp. 169-231
-
-
Walton, J.N.1
Nattrass, F.J.2
-
2
-
-
7344236140
-
Muscular dystrophy: Some recent advances in knowledge
-
Walton JN. Muscular dystrophy: some recent advances in knowledge. BMJ 1964;i:1271-4.
-
(1964)
BMJ
, vol.1
, pp. 1271-1274
-
-
Walton, J.N.1
-
3
-
-
7344236140
-
Muscular dystrophy: Some recent advances in knowledge
-
Walton JN. Muscular dystrophy: some recent advances in knowledge. BMJ 1964;i:1344-8.
-
(1964)
BMJ
, vol.1
, pp. 1344-1348
-
-
Walton, J.N.1
-
4
-
-
0019918301
-
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy
-
Murray JM, Davies, KE, Harper PS, Meredith L, Mueller CR, Williamson R. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature 1982;300:69-71.
-
(1982)
Nature
, vol.300
, pp. 69-71
-
-
Murray, J.M.1
Davies, K.E.2
Harper, P.S.3
Meredith, L.4
Mueller, C.R.5
Williamson, R.6
-
5
-
-
0006695192
-
Specific cloning of DNA fragments absent from DNA of a male patient with an X chromosome deletion
-
Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA. Specific cloning of DNA fragments absent from DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A 1985;82:4778-82.
-
(1985)
Proc Natl Acad Sci U S A
, vol.82
, pp. 4778-4782
-
-
Kunkel, L.M.1
Monaco, A.P.2
Middlesworth, W.3
Ochs, H.D.4
Latt, S.A.5
-
6
-
-
0022347518
-
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy
-
Ray PN, Belfall B, Duff C, Logan C, Kean V, Thompson MW, et al. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature 1985;318:672-5.
-
(1985)
Nature
, vol.318
, pp. 672-675
-
-
Ray, P.N.1
Belfall, B.2
Duff, C.3
Logan, C.4
Kean, V.5
Thompson, M.W.6
-
7
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman EP, Brown RH, 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, R.H.2
Kunkel, L.M.3
-
8
-
-
84989031981
-
Negative immunostaining of Duchenne muscular dystrophy (DMD) and mdx muscle surface membrane with antibody against synthetic peptide fragment predicted from DMD cDNA
-
Sugita H, Arahata K, Ishiguro T, Suhara Y, Tsukahara T, Ishiura S, et al. Negative immunostaining of Duchenne muscular dystrophy (DMD) and mdx muscle surface membrane with antibody against synthetic peptide fragment predicted from DMD cDNA. Proc Jpn Acad 1988;64:37-9.
-
(1988)
Proc Jpn Acad
, vol.64
, pp. 37-39
-
-
Sugita, H.1
Arahata, K.2
Ishiguro, T.3
Suhara, Y.4
Tsukahara, T.5
Ishiura, S.6
-
9
-
-
0023925292
-
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
-
Zubrzycka-Gaarn EE, Bulman DE, Karpati G, Burghes AHM, Belfall B, Klamut HJ, et al. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 1988;333:466-9.
-
(1988)
Nature
, vol.333
, pp. 466-469
-
-
Zubrzycka-Gaarn, E.E.1
Bulman, D.E.2
Karpati, G.3
Ahm, B.4
Belfall, B.5
Klamut, H.J.6
-
11
-
-
0023257860
-
Germ line mosaicism and Duchenne muscular dystrophy mutations
-
Bakker E, van Broeckhoven C, Bonten EJ, van de Vooren MJ, Veenema H, van Hul W, et al. Germ line mosaicism and Duchenne muscular dystrophy mutations. Nature 1987;329:554-8.
-
(1987)
Nature
, vol.329
, pp. 554-558
-
-
Bakker, E.1
Van Broeckhoven, C.2
Bonten, E.J.3
Van De Vooren, M.J.4
Veenema, H.5
Van Hul, W.6
-
12
-
-
0027527236
-
Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy
-
Holding C, Bentley D, Roberts R, Bobrow M, Matthew C. Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy. J Med Genet 1993;30:903-9.
-
(1993)
J Med Genet
, vol.30
, pp. 903-909
-
-
Holding, C.1
Bentley, D.2
Roberts, R.3
Bobrow, M.4
Matthew, C.5
-
13
-
-
0003223434
-
Facioscapulohumeral muscular dystrophy
-
Emery AEH, ed. London: Royal Society of Medicine
-
Padberg GW, Lunt PW, Koch M, Fardeau M. Facioscapulohumeral muscular dystrophy. In: Emery AEH, ed. Diagnostic criteria for neuromuscular disorders. 2nd ed. London: Royal Society of Medicine, 1997:9-15.
-
(1997)
Diagnostic Criteria for Neuromuscular Disorders. 2nd Ed.
, pp. 9-15
-
-
Padberg, G.W.1
Lunt, P.W.2
Koch, M.3
Fardeau, M.4
-
14
-
-
0025160101
-
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4
-
Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990;336:651-3.
-
(1990)
Lancet
, vol.336
, pp. 651-653
-
-
Wijmenga, C.1
Frants, R.R.2
Brouwer, O.F.3
Moerer, P.4
Weber, J.L.5
Padberg, G.W.6
-
15
-
-
0030453359
-
Towards the classification of the autosomal recessive limb girdle muscular dystrophies
-
Bushby KMD. Towards the classification of the autosomal recessive limb girdle muscular dystrophies. Neuromuscul Disord 1996;6:439-41.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 439-441
-
-
Kmd, B.1
-
16
-
-
0029906609
-
Advances in the molecular genetics of the limb girdle type of autosomal recessive progressive muscular dystrophy
-
Beckmann JS, Bushby KMD. Advances in the molecular genetics of the limb girdle type of autosomal recessive progressive muscular dystrophy. Curr Opin Neurol 1996;9:389-93.
-
(1996)
Curr Opin Neurol
, vol.9
, pp. 389-393
-
-
Beckmann, J.S.1
Bushby, K.M.D.2
-
17
-
-
0031042885
-
Mutations in the sarcoglycan genes in patients with myopathy
-
Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 1997;336:618-24.
-
(1997)
N Engl J Med
, vol.336
, pp. 618-624
-
-
Duggan, D.J.1
Gorospe, J.R.2
Fanin, M.3
Hoffman, E.P.4
Angelini, C.5
-
18
-
-
76949122075
-
Myopathia distalis tarda hereditaria
-
Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand 1951;141(suppl 265):1-124.
-
(1951)
Acta Med Scand
, vol.141
, Issue.265 SUPPL.
, pp. 1-124
-
-
Welander, L.1
-
19
-
-
0028813434
-
Autosomal dominant distal myopathy: Linkage to chromosome 14
-
Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 1995;56:422-7.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 422-427
-
-
Laing, N.G.1
Laing, B.A.2
Meredith, C.3
Wilton, S.D.4
Robbins, P.5
Honeyman, K.6
-
21
-
-
0031243568
-
Proceedings of the 1st international symposium on oculopharyngeal muscular dystrophy (Québec, Canada, 22-23 September 1995)
-
Bouchard J-P, Brais P, Tomé FMS, eds. Proceedings of the 1st international symposium on oculopharyngeal muscular dystrophy (Québec, Canada, 22-23 September 1995). Neuromuscul Disord 1997;7(suppl 1):S1-106.
-
(1997)
Neuromuscul Disord
, vol.7
, Issue.1 SUPPL.
-
-
Bouchard, J.-P.1
Brais, P.2
Tomé, F.M.S.3
-
22
-
-
17344371397
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
-
Brais B, Bouchard J-P, Xie Y-G, Rochefort DL, Chrétien N, Tomé FMS, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genetics 1998;18:164-7.
-
(1998)
Nature Genetics
, vol.18
, pp. 164-167
-
-
Brais, B.1
Bouchard, J.-P.2
Xie, Y.-G.3
Rochefort, D.L.4
Chrétien, N.5
Tomé, F.M.S.6
-
23
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tomé FMS, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci Paris Life Sci 1994;317:351-7.
-
(1994)
C R Acad Sci Paris Life Sci
, vol.317
, pp. 351-357
-
-
Tomé, F.M.S.1
Evangelista, T.2
Leclerc, A.3
Sunada, Y.4
Manole, E.5
Estournet, B.6
-
24
-
-
0030997888
-
Genetics of laminin α 2 chain (or merosin) deficient congenital muscular dystrophy: From identification of mutations to prenatal diagnosis
-
Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, Cruaud C, et al. Genetics of laminin α 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. Neuromuscul Disord 1997;7:180-6.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 180-186
-
-
Guicheney, P.1
Vignier, N.2
Helbling-Leclerc, A.3
Nissinen, M.4
Zhang, X.5
Cruaud, C.6
-
26
-
-
0031458735
-
Workshop report: 50th ENMC international workshop on congenital muscular dystrophy
-
Dubowitz V. Workshop report: 50th ENMC international workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-47.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 539-547
-
-
Dubowitz, V.1
-
27
-
-
0030788130
-
Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy
-
Metzinger L, Blake DJ, Squier MV, Anderson LVB, Deconinck AE, Nawrotzki R, et al. Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. Hum Mol Genet 1997;6:1185-91.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1185-1191
-
-
Metzinger, L.1
Blake, D.J.2
Squier, M.V.3
Anderson, L.V.B.4
Deconinck, A.E.5
Nawrotzki, R.6
-
28
-
-
0001449636
-
Functions of dystrophin
-
Brown SC, Lucy JA, eds. Cambridge: Cambridge University Press
-
Brown SC, Lucy JA. Functions of dystrophin. In: Brown SC, Lucy JA, eds. Dystrophin: gene, protein and cell biology. Cambridge: Cambridge University Press, 1997:163-200.
-
(1997)
Dystrophin: Gene, Protein and Cell Biology
, pp. 163-200
-
-
Brown, S.C.1
Lucy, J.A.2
-
29
-
-
0343640698
-
Heart specific localization of emerin
-
Cartegni L, di Barletta MR. Barresi R, Squarzoni S, Sabatelli P, Maraldi N, et al. Heart specific localization of emerin. Hum Mol Genet 1997;6:2257-64.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2257-2264
-
-
Cartegni, L.1
Di Barletta, M.R.2
Barresi, R.3
Squarzoni, S.4
Sabatelli, P.5
Maraldi, N.6
-
31
-
-
0030912103
-
Workshop report: 47th ENMC international workshop on treatment of muscular dystrophy
-
Dubowitz V. Workshop report: 47th ENMC international workshop on treatment of muscular dystrophy. Neuromuscul Disord 1997;7:261-7.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 261-267
-
-
Dubowitz, V.1
-
32
-
-
0000033068
-
Proceedings of a workshop on gene therapy for Duchenne muscular dystrophy (Perth. Australia, 30-31 May 1996)
-
Howell JMcC, Karpati G, Kakulas BA, eds. Proceedings of a workshop on gene therapy for Duchenne muscular dystrophy (Perth. Australia, 30-31 May 1996). Neuromuscul Disord 1997;7:273-366.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 273-366
-
-
Howell, J.McC.1
Karpati, G.2
Kakulas, B.A.3
-
33
-
-
0029906168
-
Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene
-
Tinsley JM, Potter AC, Phelps SR, Fisher R, Trickett JI, Davies KE. Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature 1996;384:349-53.
-
(1996)
Nature
, vol.384
, pp. 349-353
-
-
Tinsley, J.M.1
Potter, A.C.2
Phelps, S.R.3
Fisher, R.4
Trickett, J.I.5
Davies, K.E.6
-
34
-
-
0030848969
-
Utrophin-dystrophin deficient mice as a model for Duchenne muscular dystrophy
-
Deconinck AE, Rafael JA, Skinner JA, Brown SC, Potter AC, Metzinger L, et al. Utrophin-dystrophin deficient mice as a model for Duchenne muscular dystrophy. Cell 1997;90:717-27.
-
(1997)
Cell
, vol.90
, pp. 717-727
-
-
Deconinck, A.E.1
Rafael, J.A.2
Skinner, J.A.3
Brown, S.C.4
Potter, A.C.5
Metzinger, L.6
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