-
1
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases: A world survey
-
Emery AE: 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
-
2
-
-
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;50:509-517
-
(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
-
3
-
-
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;53:219-228
-
(1988)
Cell
, vol.53
, pp. 219-228
-
-
Koenig, M.1
Monaco, A.P.2
Kunkel, L.M.3
-
4
-
-
0024600620
-
Association of dystrophin and an integral membrane glycoprotein
-
Campbell KP, Kahl SD: Association of dystrophin and an integral membrane glycoprotein. Nature 1989;338:259-262
-
(1989)
Nature
, vol.338
, pp. 259-262
-
-
Campbell, K.P.1
Kahl, S.D.2
-
5
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti JM, Campbell KP: Membrane organization of the dystrophin-glycoprotein complex. Cell 1991;66:1121-1131
-
(1991)
Cell
, vol.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
6
-
-
0031722943
-
The sarcoglycan complex in limbgirdle muscular dystrophy
-
Lim LE, Campbell KP: The sarcoglycan complex in limbgirdle muscular dystrophy. Curr Opin Neurol 1998;11:443-452
-
(1998)
Curr Opin Neurol
, vol.11
, pp. 443-452
-
-
Lim, L.E.1
Campbell, K.P.2
-
7
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP: Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992;355:696-702
-
(1992)
Nature
, vol.355
, pp. 696-702
-
-
Ibraghimov-Beskrovnaya, O.1
Ervasti, J.M.2
Leveille, C.J.3
Slaughter, C.A.4
Sernett, S.W.5
Campbell, K.P.6
-
8
-
-
0031451562
-
Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex
-
Crosbie RH, Heighway J, Venzke DP, Lee JC, Campbell KP: Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. J Biol Chem 1997;272: 31221-31224
-
(1997)
J Biol Chem
, vol.272
, pp. 31221-31224
-
-
Crosbie, R.H.1
Heighway, J.2
Venzke, D.P.3
Lee, J.C.4
Campbell, K.P.5
-
9
-
-
0027481238
-
Duchenne muscular dystrophy: Deficiency of dystrophinassociated proteins in the sarcolemma
-
Ohlendieck K, Matsumura K, Ionasescu VV, Towbin JA, Bosch EP, Weinstein SL, Sernett SW, Campbell KP: Duchenne muscular dystrophy: Deficiency of dystrophinassociated 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
Towbin, J.A.4
Bosch, E.P.5
Weinstein, S.L.6
Sernett, S.W.7
Campbell, K.P.8
-
10
-
-
0027244308
-
Deficiency of dystrophinassociated proteins: A common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies
-
Matsumura K, Campbell KP: Deficiency of dystrophinassociated proteins: A common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies. Neuromuscul Disord 1993;3:109-118
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 109-118
-
-
Matsumura, K.1
Campbell, K.P.2
-
11
-
-
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;345:315-319
-
(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
-
12
-
-
0028009624
-
Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy
-
Mizuno Y, Yoshida M, Nonaka I, Hirai S, Ozawa E: Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy. Muscle Nerve 1994;17:206-216
-
(1994)
Muscle Nerve
, vol.17
, pp. 206-216
-
-
Mizuno, Y.1
Yoshida, M.2
Nonaka, I.3
Hirai, S.4
Ozawa, E.5
-
13
-
-
0031943778
-
From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy
-
Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M: From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy. Muscle Nerve 1998;21:421-438
-
(1998)
Muscle Nerve
, vol.21
, pp. 421-438
-
-
Ozawa, E.1
Noguchi, S.2
Mizuno, Y.3
Hagiwara, Y.4
Yoshida, M.5
-
14
-
-
17344363640
-
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
-
Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K: A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998; 20:37-42
-
(1998)
Nat Genet
, vol.20
, pp. 37-42
-
-
Bashir, R.1
Britton, S.2
Strachan, T.3
Keers, S.4
Vafiadaki, E.5
Lako, M.6
Richard, I.7
Marchand, S.8
Bourg, N.9
Argov, Z.10
Sadeh, M.11
Mahjneh, I.12
Marconi, G.13
Passos-Bueno, M.R.14
Moreira Ede, S.15
Zatz, M.16
Beckmann, J.S.17
Bushby, K.18
-
15
-
-
0034665195
-
The third human FER-1-like protein is highly similar to dysferlin
-
Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R: The third human FER-1-like protein is highly similar to dysferlin. Genomics 2000;68:313-321
-
(2000)
Genomics
, vol.68
, pp. 313-321
-
-
Britton, S.1
Freeman, T.2
Vafiadaki, E.3
Keers, S.4
Harrison, R.5
Bushby, K.6
Bashir, R.7
-
16
-
-
0035943022
-
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
-
Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr: Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 2001;57:271-278
-
(2001)
Neurology
, vol.57
, pp. 271-278
-
-
Aoki, M.1
Liu, J.2
Richard, I.3
Bashir, R.4
Britton, S.5
Keers, S.M.6
Oeltjen, J.7
Brown, H.E.8
Marchand, S.9
Bourg, N.10
Beley, C.11
McKenna-Yasek, D.12
Arahata, K.13
Bohlega, S.14
Cupler, E.15
Illa, I.16
Majneh, I.17
Barohn, R.J.18
Urtizberea, J.A.19
Fardeau, M.20
Amato, A.21
Angelini, C.22
Bushby, K.23
Beckmann, J.S.24
Brown R.H, Jr.25
more..
-
17
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr: Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-36
-
(1998)
Nat Genet
, vol.20
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
Wu, C.4
Fardeau, M.5
Angelini, C.6
Serrano, C.7
Urtizberea, J.A.8
Hentati, F.9
Hamida, M.B.10
Bohlega, S.11
Culper, E.J.12
Amato, A.A.13
Bossie, K.14
Oeltjen, J.15
Bejaoui, K.16
McKenna-Yasek, D.17
Hosler, B.A.18
Schurr, E.19
Arahata, K.20
de Jong, P.J.21
Brown R.H, Jr.22
more..
-
18
-
-
0035109410
-
Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
-
Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-García R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH: Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001;49:130-134
-
(2001)
Ann Neurol
, vol.49
, pp. 130-134
-
-
Illa, I.1
Serrano-Munuera, C.2
Gallardo, E.3
Lasa, A.4
Rojas-García, R.5
Palmer, J.6
Gallano, P.7
Baiget, M.8
Matsuda, C.9
Brown, R.H.10
-
19
-
-
0027460658
-
Dystrophin protects the sarcolemma from stresses developed during muscle contraction
-
Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL: Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci U S A 1993;90:3710-3714
-
(1993)
Proc Natl Acad Sci U S A
, 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
-
20
-
-
0027248618
-
Increased susceptibility of EDL muscles from mdx mice to damage induced by contractions with stretch
-
Moens P, Baatsen PH, Maréchal G: Increased susceptibility of EDL muscles from mdx mice to damage induced by contractions with stretch. J Muscle Res Cell Motil 1993;14:446-451
-
(1993)
J Muscle Res Cell Motil
, vol.14
, pp. 446-451
-
-
Moens, P.1
Baatsen, P.H.2
Maréchal, G.3
-
21
-
-
0030985763
-
Loss, restoration, and maintenance of plasma membrane integrity
-
McNeil PL, Steinhardt RA: Loss, restoration, and maintenance of plasma membrane integrity. J Cell Biol 1997;137:1-4
-
(1997)
J Cell Biol
, vol.137
, pp. 1-4
-
-
McNeil, P.L.1
Steinhardt, R.A.2
-
22
-
-
0242606971
-
Surface wound healing: A new, general function of eukaryotic cells
-
Meldolesi J: Surface wound healing: A new, general function of eukaryotic cells. J Cell Mol Med 2003;7:197-203
-
(2003)
J Cell Mol Med
, vol.7
, pp. 197-203
-
-
Meldolesi, J.1
-
23
-
-
0037738510
-
Defective membrane repair in dysferlin-deficient muscular dystrophy
-
Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP: Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003;423: 168-172
-
(2003)
Nature
, vol.423
, pp. 168-172
-
-
Bansal, D.1
Miyake, K.2
Vogel, S.S.3
Groh, S.4
Chen, C.C.5
Williamson, R.6
McNeil, P.L.7
Campbell, K.P.8
-
24
-
-
0347379869
-
Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing
-
Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH Jr: Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 2003;278:50466-50473
-
(2003)
J Biol Chem
, vol.278
, pp. 50466-50473
-
-
Lennon, N.J.1
Kho, A.2
Bacskai, B.J.3
Perlmutter, S.L.4
Hyman, B.T.5
Brown R.H, Jr.6
-
26
-
-
0032929386
-
Multiplex Western blotting system for the analysis of muscular dystrophy proteins
-
Anderson LV, Davison K: Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 1999;154:1017-1022
-
(1999)
Am J Pathol
, vol.154
, pp. 1017-1022
-
-
Anderson, L.V.1
Davison, K.2
-
27
-
-
0013164798
-
Multiplex Western blot analysis of muscular dystrophy proteins
-
Edited by KMD Bushby, LVB Anderson. From the Methods in Molecular Medicine series, edited by JM Walker. Totowa, New Jersey, Humana Press
-
Anderson LVB: Multiplex Western blot analysis of muscular dystrophy proteins. In Muscular Dystrophy: Methods and Protocols. Edited by KMD Bushby, LVB Anderson. From the Methods in Molecular Medicine series, edited by JM Walker. Totowa, New Jersey, Humana Press, 2001, pp 369-386
-
(2001)
Muscular Dystrophy: Methods and Protocols
, pp. 369-386
-
-
Anderson, L.V.B.1
-
28
-
-
0032955751
-
Dysferlin is a plasma membrane protein and is expressed early in human development
-
Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby KM: Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 1999;8:855-861
-
(1999)
Hum Mol Genet
, vol.8
, pp. 855-861
-
-
Anderson, L.V.1
Davison, K.2
Moss, J.A.3
Young, C.4
Cullen, M.J.5
Walsh, J.6
Johnson, M.A.7
Bashir, R.8
Britton, S.9
Keers, S.10
Argov, Z.11
Mahjneh, I.12
Fougerousse, F.13
Beckmann, J.S.14
Bushby, K.M.15
-
29
-
-
0019067646
-
Caenorhabditis elegans fertilizationdefective mutants with abnormal sperm
-
Argon Y, Ward S: Caenorhabditis elegans fertilizationdefective mutants with abnormal sperm. Genetics 1980;96: 413-433
-
(1980)
Genetics
, vol.96
, pp. 413-433
-
-
Argon, Y.1
Ward, S.2
-
30
-
-
0019848568
-
Sperm morphogenesis in wild-type and fertilization-defective mutants of Caenorhabditis elegans
-
Ward S, Argon Y, Nelson GA: Sperm morphogenesis in wild-type and fertilization-defective mutants of Caenorhabditis elegans. J Cell Biol 1981;91:26-44
-
(1981)
J Cell Biol
, vol.91
, pp. 26-44
-
-
Ward, S.1
Argon, Y.2
Nelson, G.A.3
-
31
-
-
0030972880
-
A nematode gene required for sperm vesicle fusion
-
Achanzar WE, Ward S: A nematode gene required for sperm vesicle fusion. J Cell Sci 1997;110:1073-1081
-
(1997)
J Cell Sci
, vol.110
, pp. 1073-1081
-
-
Achanzar, W.E.1
Ward, S.2
-
32
-
-
0035282457
-
Synaptotagmin I functions as a calcium regulator of release probability
-
Fernández-Chacón R, Königstorfer A, Gerber SH, García J, Matos MF, Stevens CF, Brose N, Rizo J, Rosenmund C, Südhof TC: Synaptotagmin I functions as a calcium regulator of release probability. Nature 2001;410:41-49
-
(2001)
Nature
, vol.410
, pp. 41-49
-
-
Fernández-Chacón, R.1
Königstorfer, A.2
Gerber, S.H.3
García, J.4
Matos, M.F.5
Stevens, C.F.6
Brose, N.7
Rizo, J.8
Rosenmund, C.9
Südhof, T.C.10
-
33
-
-
0037151075
-
Calciumsensitive phospholipid binding properties of normal and mutant ferlin C2 domains
-
Davis DB, Doherty KR, Delmonte AJ, McNally EM: Calciumsensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J Biol Chem 2002;277:22883-22888
-
(2002)
J Biol Chem
, vol.277
, pp. 22883-22888
-
-
Davis, D.B.1
Doherty, K.R.2
Delmonte, A.J.3
McNally, E.M.4
-
34
-
-
33745223285
-
Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro."
-
de Luna N, Gallardo E, Soriano M, Dominguez-Perles R, de la Torre C, Rojas-García R, García-Verdugo JM, Illa I: Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro." J Biol Chem 2006; 281:17092-17098
-
(2006)
J Biol Chem
, vol.281
, pp. 17092-17098
-
-
de Luna, N.1
Gallardo, E.2
Soriano, M.3
Dominguez-Perles, R.4
de la Torre, C.5
Rojas-García, R.6
García-Verdugo, J.M.7
Illa, I.8
-
35
-
-
0042427273
-
Repairing the tears: Dysferlin in muscle membrane repair
-
Doherty KR, McNally EM: Repairing the tears: Dysferlin in muscle membrane repair. Trends Mol Med 2003;9:327-330
-
(2003)
Trends Mol Med
, vol.9
, pp. 327-330
-
-
Doherty, K.R.1
McNally, E.M.2
-
36
-
-
1842556210
-
Dysferlin and the plasma membrane repair in muscular dystrophy
-
Bansal D, Campbell KP: Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol 2004;14:206-213
-
(2004)
Trends Cell Biol
, vol.14
, pp. 206-213
-
-
Bansal, D.1
Campbell, K.P.2
-
37
-
-
34548009359
-
Dysferlin and muscle membrane repair
-
Han R, Campbell KP: Dysferlin and muscle membrane repair. Curr Opin Cell Biol 2007;19:409-416
-
(2007)
Curr Opin Cell Biol
, vol.19
, pp. 409-416
-
-
Han, R.1
Campbell, K.P.2
-
38
-
-
0033673056
-
Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb: Girdle muscular dystrophies
-
Piccolo F, Moore SA, Ford GC, Campbell KP: Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb: Girdle muscular dystrophies. Ann Neurol 2000;48:902-912
-
(2000)
Ann Neurol
, vol.48
, pp. 902-912
-
-
Piccolo, F.1
Moore, S.A.2
Ford, G.C.3
Campbell, K.P.4
-
39
-
-
38749153262
-
Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis
-
Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN: Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2008;18:34-44
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 34-44
-
-
Lo, H.P.1
Cooper, S.T.2
Evesson, F.J.3
Seto, J.T.4
Chiotis, M.5
Tay, V.6
Compton, A.G.7
Cairns, A.G.8
Corbett, A.9
MacArthur, D.G.10
Yang, N.11
Reardon, K.12
North, K.N.13
|