-
2
-
-
0031252066
-
Supramolecular organization of the subsarcolemmal cytoskeleton of adult skeletal muscle fibers. A review
-
(1997)
Biol Cell
, vol.89
, pp. 413-434
-
-
Berthier, C.1
Blaineau, S.2
-
8
-
-
0028914964
-
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
-
(1995)
Cell
, vol.80
, pp. 675-679
-
-
Campbell, K.P.1
-
16
-
-
0025745162
-
Exploring the molecular basis for variability among patients with Becker muscular-dystrophy - Dystrophin gene and protein studies
-
(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
Angelini, C.7
Sugita, H.8
Kunkel, L.M.9
-
17
-
-
0030695947
-
Dystrophin-glycoprotein complex is monomeric and stabilizes actin filaments in vitro through a lateral association
-
(1997)
J Biol Chem
, vol.272
, pp. 28771-28778
-
-
Rybakova, I.N.1
Ervasti, J.M.2
-
27
-
-
0030927063
-
Dystroglycan is essential for early embryonic development: Disruption of Reichert's membrane in Dag1-null mice
-
(1997)
Hum Mol Genet
, vol.6
, pp. 831-841
-
-
Williamson, R.A.1
Henry, M.D.2
Daniels, K.J.3
Hrstka, R.F.4
Lee, J.C.5
Sunada, Y.6
Ibraghimov-Beskrovnaya, O.7
Campbell, K.P.8
-
38
-
-
0033593119
-
α1-Syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration
-
(1999)
J Biol Chem
, vol.271
, pp. 2193-2200
-
-
Kameya, S.1
Miyagoe, Y.2
Nonaka, I.3
Ikemoto, T.4
Endo, M.5
Hanaoka, K.6
Nabeshima, Y.7
Takeda, S.8
-
47
-
-
17344372250
-
Mutations in the integrin alpha 7 gene cause congenital myopathy
-
(1998)
Nature Gemet
, vol.19
, pp. 94-97
-
-
Hayashi, Y.K.1
Chou, F.-L.2
Engvall, E.3
Ogawa, M.4
Matsuda, C.5
Hirabayashi, S.6
Yokochi, K.7
Ziober, B.8
Kramer, R.9
Kaufman, S.10
Ozawa, E.11
Goto, Y.-I.12
Nonaka, I.13
Tsukahara, T.14
Wang, J.-Z.15
Hoffman, E.16
Arahata, K.17
-
48
-
-
0030724952
-
Absence of integrin alpha-7 causes a novel form of muscular dystrophy
-
(1999)
Nature Genet
, vol.17
, pp. 318-323
-
-
Mayer, U.1
Saher, G.2
Fassler, R.3
Bornemann, A.4
Echtermeyer, F.5
Mark, H.6
Miosge, N.7
Poschl, E.8
Mark, K.V.D.9
-
50
-
-
0035071517
-
Distinct roles for dystroglycan, β1 integrin and perlecan in cell surface laminin organisation
-
(2001)
J Cell Sci
, vol.114
, pp. 1137-1144
-
-
Henry, M.1
Satz, J.2
Brakebusch, C.3
Costell, M.4
Gustafsson, E.5
Fassler, R.6
Campbell, K.7
-
54
-
-
17344361902
-
A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
-
(1998)
Nature Genet
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
Li, Z.4
Prevost, M.-C.5
Faure, A.6
Chateau, D.7
Chapon, F.8
Tome, F.9
Dupret, J.-M.10
Paulin, D.11
Fardeau, M.12
-
55
-
-
17344373157
-
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
-
(1998)
Nature Genet
, vol.19
, pp. 402-403
-
-
Goldfarb, L.1
Park, K.-Y.2
Cervenakova, L.3
Gorokhova, S.4
Lee, H.-S.5
Vasconcelos, O.6
Nagle, J.7
Semino-Mora, C.8
Sivakumar, K.9
Dalakas, M.10
-
56
-
-
0038669889
-
A dysfunctional desmin mutation in a patient with severe generalized myopathy
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 11312-11317
-
-
Munoz-Marmol, A.1
Strasser, G.2
Isamat, M.3
Coulombe, P.4
Yang, Y.5
Roca, X.6
Vela, E.7
Mate, J.8
Coll, J.9
Fernandez-Figueras, M.10
Navas-Palacios, J.11
Ariza, A.12
Fuchs, E.13
-
58
-
-
9344248374
-
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
-
(1996)
Nature Genet
, vol.13
, pp. 450-457
-
-
Smith, F.J.D.1
Eady, R.A.J.2
Leigh, I.M.3
McMillan, J.R.4
Rugg, E.L.5
Kelsell, D.P.6
Bryant, S.P.7
Spurr, N.K.8
Geddes, J.F.9
Kirtschig, G.10
Milana, G.11
Bono, A.G.D.12
Owaribe, K.13
Wiche, G.14
Pulkkinen, L.15
Uitto, J.16
McLean, W.H.I.17
Lane, E.B.18
-
60
-
-
0031590316
-
Telethonin, a novel sarcomeric protein of heart and skeletal muscle
-
(1997)
FEBS Lett
, vol.415
, pp. 163-168
-
-
Valle, G.1
Faulkner, G.2
Antoni, A.D.3
Pacchioni, B.4
Pallavicini, A.5
Pandolfo, D.6
Tiso, N.7
Toppo, S.8
Trevisan, S.9
Lanfranchi, G.10
-
61
-
-
0034284682
-
Myotilin is mutated in limb girdle muscular dystrophy 1A
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2141-2147
-
-
Hauser, M.1
Horrigan, S.2
Salmikangas, P.3
Torian, U.4
Viles, K.5
Dancel, R.6
Tim, R.7
Taivainen, A.8
Bartoloni, L.9
Gilchrist, J.10
Stajich, J.11
Gaskell, P.12
Gilbert, J.13
Vance, J.14
Pericak-Vance, M.15
Carpen, O.16
Westbrook, C.17
Speer, M.18
-
62
-
-
0033954004
-
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
-
(2000)
Nature Genet
, vol.24
, pp. 163-166
-
-
Moreira, E.1
Wiltshire, T.2
Faulkner, G.3
Nilforoushan, A.4
Vainzof, M.5
Suzuki, O.6
Valle, G.7
Reeves, R.8
Zatz, M.9
Passos-Bueno, M.10
Jenne, D.11
-
63
-
-
0034627825
-
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
-
(2000)
J Cell Biol
, vol.148
, pp. 115-126
-
-
Thompson, T.1
Chan, Y.-M.2
Hack, A.3
Brosius, M.4
Rajala, M.5
Lidov, H.6
McNally, E.7
Watkins, S.8
Kunkel, L.9
-
64
-
-
0034675887
-
Indications for a novel muscular dystrophy pathway: Filamin, the muscle-specific filamin isoform, interacts with myotilin
-
(2000)
J Cell Biol
, vol.151
, pp. 235-248
-
-
Ven, P.V.D.1
Wiesner, S.2
Salmikangas, P.3
Auerbach, D.4
Himmel, M.5
Kempa, S.6
Hayess, K.7
Pacholsky, D.8
Taivainen, A.9
Schröder, R.10
Carpén, O.11
Fürst, D.12
-
65
-
-
0033073978
-
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
-
(1999)
Am J Hum Genet
, vol.64
, pp. 556-562
-
-
Speer, M.1
Vance, J.2
Grubber, J.3
Graham, F.4
Stajich, J.5
Viles, K.6
Rogala, A.7
McMichael, R.8
Chutkow, J.9
Goldsmith, C.10
Tim, R.11
Pericak-Vance, M.12
-
66
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain cause limb-girdle muscular dystrophy-type 2A
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
Fougerousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
Brenguier, L.7
Devaud, C.8
Pasturaud, P.9
Roudaut, C.10
-
67
-
-
0031920515
-
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
-
(1998)
Nature Genetics
, vol.18
, pp. 365-368
-
-
Minetti, C.1
Sotgia, F.2
Bruno, C.3
Scartezzini, P.4
Broda, P.5
Bado, M.6
Masetti, E.7
Mazzocco, M.8
Egeo, A.9
Donati, M.A.10
Volonte, D.11
Galbiati, F.12
Cordone, G.13
Bricarelli, F.D.14
Lisanti, M.P.15
Zara, F.16
-
68
-
-
13344285357
-
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
-
(1995)
J Biol Chem
, vol.270
, pp. 31158-31162
-
-
Kinbara, S.1
Kimura, K.2
Takahashi, S.3
Ishiura, M.4
Sasagawa, S.5
Sorimachi, N.6
Shimada, N.7
Tagawa, H.8
Maruyama, K.9
Suzuki, K.10
-
70
-
-
0025955448
-
In vitro proteolysis of brain spectrin by calpain I inhibits association of spectrin with ankyrin-independent membrane binding site(s)
-
(1991)
J Biol Chem
, vol.266
, pp. 18200-18205
-
-
Hu, R.1
Bennett, V.2
-
71
-
-
15844401780
-
Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins
-
(1996)
J Biol Chem
, vol.271
, pp. 15160-15165
-
-
Song, K.S.1
Scherer, P.E.2
Tang, Z.3
Okamoto, T.4
Li, S.5
Chafel, M.6
Chu, C.7
Kohtz, D.S.8
Lisanti, M.P.9
-
72
-
-
12944317278
-
Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 9689-9694
-
-
Galbiati, F.1
Volonte, D.2
Chu, J.B.3
Li, M.4
Fine, S.W.5
Fu, M.6
Bermudez, J.7
Pedemonte, M.8
Weidenheim, K.M.9
Pestell, R.G.10
Minetti, C.11
Lisanti, M.P.12
-
73
-
-
0034532164
-
Caveolin-3 directly interacts with the C-terminal tail of β-dystroglycan: Identification of a central WW-like domain within caveolin family members
-
(2000)
J Biol Chem
, vol.275
, pp. 38048-38058
-
-
Sotgia, F.1
Lee, J.K.2
Das, K.3
Bedford, M.4
Petrucci, T.C.5
Macioce, P.6
Sargiacomo, M.7
Bricarelli, F.D.8
Minetti, C.9
Sudol, M.10
Lisanti, M.P.11
-
76
-
-
0035807788
-
Tyrosine phosphorylation of β-dystroglycan at its WW domain binfing motif, PPxY, recruits SH2 domain containing proteins
-
(2001)
Biochem
, vol.40
, pp. 14585-14592
-
-
Sotgia, F.1
Lee, H.2
Bedford, M.3
Petrucci, T.C.4
Sudol, M.5
Lisanti, M.P.6
-
77
-
-
0028980027
-
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
-
(1995)
Nature Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
Cruaud, C.4
Tesson, F.5
Weissenbach, J.6
Tome, F.7
Schwartz, K.8
Fardeau, M.9
Tryggvason, K.10
Guicheney, P.11
-
79
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
(1999)
Nature Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Barletta, M.D.2
Varnous, S.3
Becane, H.4
Hammouda, E.5
Merlini, L.6
Muntoni, F.7
Greenberg, C.8
Gary, F.9
Urtizberea, J.10
Duboc, D.11
Fardeau, M.12
Tonolio, D.13
Schwartz, K.14
-
81
-
-
17344363640
-
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
-
(1998)
Nature 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.14
Moreira, E.D.S.15
Zatz, M.16
Beckmann, J.17
Bushby, K.18
-
82
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
(1998)
Nature 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.8
Hentati, F.9
Hamida, M.10
Bohlega, S.11
Culper, E.12
Amato, A.13
Bossie, K.14
Oeltjen, J.15
Bejaoui, K.16
McKenna-Yasek, D.17
Hosler, B.18
Schurr, E.19
Arahat, K.20
Jong, P.D.21
Brown, R.22
more..
-
83
-
-
18544402590
-
Absence of gamma-sarcoglycan (35-dag) in autosomal recessive muscular-dystrophy linked to chromosome 13q12
-
(1996)
Febs Lett
, vol.381
, pp. 15-20
-
-
Jung, D.1
Leturcq, F.2
Sunada, Y.3
Duclos, F.4
Tome, F.M.S.5
Moomaw, C.6
Merlini, L.7
Azibi, K.8
Chaouch, M.9
Slaughter, C.10
Fardeau, M.11
Kaplan, J.C.12
Campbell, K.P.13
-
84
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
Piccolo, F.4
Jeanpierre, M.5
Anderson, R.D.6
Lim, L.E.7
Iee, J.C.8
Tome, F.M.S.9
Romero, N.B.10
Fardeau, M.11
Beckmann, J.S.12
Kaplan, J.-C.13
Campbell, K.P.14
-
85
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
(1995)
Nature Genet
, vol.11
, pp. 266-273
-
-
Bonnemann, C.G.1
Modi, R.2
Noguchi, S.3
Mizuno, Y.4
Yoshida, M.5
Gussoni, E.6
McNally, E.M.7
Duggan, D.J.8
Angelini, C.9
Hoffman, E.P.10
Ozawa, E.11
Kunkel, L.M.12
-
86
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
-
(1996)
Nature Genet
, vol.14
, pp. 195-198
-
-
Nigro, V.1
Moreira, E.D.S.2
Piluso, G.3
Vainzof, M.4
Belsito, A.5
Politano, L.6
Puca, A.7
Passos-Bueno, M.8
Zatz, M.9
-
88
-
-
8044260252
-
Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice
-
(1997)
J Cell Biol
, vol.136
, pp. 872-894
-
-
Deconinck, A.E.1
Potter, A.C.2
Tinsley, J.M.3
Wood, S.J.4
Vater, R.5
Young, C.6
Metzinger, L.7
Vincent, A.8
Slater, C.R.9
Davies, K.E.10
-
90
-
-
0030848969
-
Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy
-
(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
Watt, D.J.7
Dickson, J.G.8
Tinsley, J.M.9
Davies, K.E.10
-
93
-
-
19244372467
-
Progressive muscular dystrophy in α-sarcoglycan-deficient mice
-
(1998)
J Cell Biol
, vol.142
, pp. 1461-1471
-
-
Duclos, F.1
Straub, V.2
Moore, S.A.3
Venzke, D.P.4
Hrstka, R.F.5
Crosbie, R.H.6
Durbeej, M.7
Lebakken, C.S.8
Ettinger, A.J.9
Meulen, J.V.D.10
Holt, K.H.11
Lim, L.E.12
Sanes, J.R.13
Davidson, B.L.14
Faulkner, J.A.15
Williamson, R.16
Campbell, K.P.17
-
94
-
-
0032829045
-
Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in β-sarcoglycan-deficient mice
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1589-1598
-
-
Araishi, K.1
Sasaoka, T.2
Imamura, M.3
Noguchi, S.4
Hama, H.5
Wakabayashi, E.6
Yoshida, M.7
Hori, T.8
Ozawa, E.9
-
96
-
-
0033588050
-
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy
-
(1999)
Cell
, vol.98
, pp. 465-474
-
-
Coral-Vazquez, R.1
Cohn, R.D.2
Moore, S.A.3
Hill, J.A.4
Weiss, R.M.5
Davisson, R.L.6
Straub, V.7
Barresi, R.8
Bansal, D.9
Hrstka, R.F.10
Williamson, R.11
Campbell, K.P.12
-
98
-
-
0035921981
-
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
-
reference added in proof
-
(2001)
Nature
, vol.413
, pp. 302-307
-
-
Moll, J.1
Barzaghi, P.2
Lin, S.3
Bezakova, G.4
Lochmuller, H.5
Engvall, E.6
Muller, U.7
Ruegg, M.A.8
|