-
5
-
-
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
Lee, J.C.8
Tome, F.M.9
Romero, N.B.10
-
6
-
-
0028883973
-
Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
McNally, E.M.2
Ben Othmane, K.3
Hagiwara, Y.4
Mizuno, Y.5
Yoshida, M.6
Yamamoto, H.7
Bonnemann, C.G.8
Gussoni, E.9
Denton, P.H.10
Kyriakides, T.11
Middleton, L.12
Hentati, F.13
Hamida, M.B.14
Nonaka, I.15
Vance, J.M.16
Kunkel, L.M.17
Ozawa, E.18
-
10
-
-
0032062510
-
Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using δ-sarcoglycan gene transfer
-
(1998)
Mol Cell
, vol.1
, pp. 841-848
-
-
Holt, K.H.1
Lim, L.E.2
Straub, V.3
Venzke, D.P.4
Duclos, F.5
Anderson, R.D.6
Davidson, B.L.7
Campbell, K.P.8
-
11
-
-
0032907636
-
Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector
-
(1999)
Nature Med
, vol.5
, pp. 439-443
-
-
Greelish, J.P.1
Su, L.T.2
Lankford, E.B.3
Burkman, J.M.4
Chen, H.5
Konig, S.K.6
Mercier, I.M.7
Desjardins, P.R.8
Mitchell, M.A.9
Zheng, X.G.10
Leferovich, J.11
Gao, G.P.12
Balice-Gordon, R.J.13
Wilson, J.M.14
Stedman, H.H.15
-
13
-
-
0028980027
-
Mutations in the laminin α 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.M.7
Schwartz, K.8
Fardeau, M.9
Tryggvason, K.10
-
14
-
-
0029771617
-
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
-
(1996)
Nature Genet
, vol.14
, pp. 113-115
-
-
Jobsis, G.1
Keizers, H.2
Vreijling, J.P.3
de Visser, M.4
Speer, M.C.5
Wolterman, R.A.6
Baas, F.7
Bolhuis, P.A.8
-
16
-
-
0028817970
-
Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: Evidence of apoptosis in dystrophin-deficient muscle
-
(1995)
J Biochem
, vol.118
, pp. 959-964
-
-
Matsuda, R.1
Nishikawa, A.2
Tanaka, H.3
-
18
-
-
0033963757
-
Disruption of the β-sarcoglycan gene reveals pathogenetic complexity of limbgirdle muscular dystrophy type 2E
-
(2000)
Mol Cell
, vol.5
, pp. 141-151
-
-
Durbeej, M.1
Cohn, R.D.2
Hrstka, R.F.3
Moore, S.A.4
Allamand, V.5
Davidson, B.L.6
Williamson, R.A.7
Campbell, K.P.8
-
19
-
-
0033885496
-
Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex
-
(2000)
J Cell Sci
, vol.113
, pp. 2535-2544
-
-
Hack, A.A.1
Lam, M.Y.2
Cordier, L.3
Shoturma, D.I.4
Ly, C.T.5
Hadhazy, M.A.6
Hadhazy, M.R.7
Sweeney, H.L.8
McNally, E.M.9
-
20
-
-
0027186053
-
Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity
-
(1993)
Nature
, vol.364
, pp. 725-729
-
-
Cox, G.A.1
Cole, N.M.2
Matsumura, K.3
Phelps, S.F.4
Hauschka, S.D.5
Campbell, K.P.6
Faulkner, J.A.7
Chamberlain, J.S.8
-
21
-
-
0026419948
-
The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy
-
(1991)
Nature
, vol.352
, pp. 536-539
-
-
Stedman, H.H.1
Sweeney, H.L.2
Shrager, J.B.3
Maguire, H.C.4
Panettieri, R.A.5
Petrof, B.6
Narusawa, M.7
Leferovich, J.M.8
Sladky, J.T.9
Kelly, A.M.10
-
26
-
-
0030724952
-
Absence of integrin α7 causes a novel form of muscular dystrophy
-
(1997)
Nature Genet
, vol.17
, pp. 318-323
-
-
Mayer, U.1
Saher, G.2
Fassler, R.3
Bornemann, A.4
Echtermeyer, F.5
von der Mark, H.6
Miosge, N.7
Poschl, E.8
von der Mark, K.9
-
27
-
-
17344372250
-
Mutations in the integrin α7 gene cause congenital myopathy
-
(1998)
Nature Genet
, vol.19
, pp. 94-97
-
-
Hayashi, Y.1
Chou, F.L.2
Engvall, E.3
Ogawa, M.4
Matsuda, C.5
Hirabayashi, S.6
Yokochi, K.7
Ziober, B.L.8
Kramer, R.H.9
Kaufman, S.J.10
Ozawa, E.11
Goto, Y.12
Nonaka, I.13
Tsukahara, T.14
Wang, J.Z.15
Hoffman, E.P.16
Arahata, K.17
-
30
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 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
-
31
-
-
0034739841
-
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IκBα/nuclear factor κB pathway perturbation in mice
-
(2000)
J Cell Biol
, vol.151
, pp. 1583-1590
-
-
Richard, I.1
Roudaut, C.2
Marchand, S.3
Baghdiguian, S.4
Herasse, M.5
Stockholm, D.6
Ono, Y.7
Suel, L.8
Bourg, N.9
Sorimachi, H.10
Lefranc, G.11
Fardeau, M.12
Sebille, A.13
Beckmann, J.S.14
-
32
-
-
0032941594
-
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A
-
(1999)
Nature Med
, vol.5
, pp. 503-511
-
-
Baghdiguian, S.1
Martin, M.2
Richard, I.3
Pons, F.4
Astier, C.5
Bourg, N.6
Hay, R.T.7
Chemaly, R.8
Halaby, G.9
Loiselet, J.10
Anderson, L.V.11
Lopez de Munain, A.12
Fardeau, M.13
Mangeat, P.14
Beckmann, J.S.15
Lefranc, G.16
-
35
-
-
0034982292
-
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
-
(2001)
Ann Neurol
, vol.49
, pp. 706-711
-
-
Wagner, K.R.1
Hamed, S.2
Hadley, D.W.3
Gropman, A.L.4
Burstein, A.H.5
Escolar, D.M.6
Hoffman, E.P.7
Fischbeck, K.H.8
-
36
-
-
0035793047
-
Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 42-47
-
-
Mann, C.J.1
Honeyman, K.2
Cheng, A.J.3
Ly, T.4
Lloyd, F.5
Fletcher, S.6
Morgan, J.E.7
Partridge, T.A.8
Wilton, S.D.9
-
39
-
-
0034086776
-
In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide
-
(2000)
Nature Biotechnol
, vol.18
, pp. 615-622
-
-
Bartlett, R.J.1
Stockinger, S.2
Denis, M.M.3
Bartlett, W.T.4
Inverardi, L.5
Le, T.T.6
thi Man, N.7
Morris, G.E.8
Bogan, D.J.9
Metcalf-Bogan, J.10
Komegay, J.N.11
-
42
-
-
0029129834
-
Myoblast transfer in the treatment of Duchenne's muscular dystrophy
-
(1995)
New Engl J Med
, vol.333
, pp. 832-838
-
-
Mendell, J.R.1
Kissel, J.T.2
Amato, A.A.3
King, W.4
Signore, L.5
Prior, T.W.6
Sahenk, Z.7
Benson, S.8
McAndrew, P.E.9
Rice, R.10
Nagaraja, H.11
Stephens, R.12
Lantry, L.13
Morris, G.E.14
Burghes, A.H.M.15
-
43
-
-
8244228688
-
Myoblast implantation in Duchenne muscular dystrophy: The San Francisco study
-
(1997)
Muscle Nerve
, vol.20
, pp. 469-478
-
-
Miller, R.G.1
Sharma, K.R.2
Pavlath, G.K.3
Gussoni, E.4
Mynhier, M.5
Lanctot, A.M.6
Greco, C.M.7
Steinman, L.8
Blau, H.M.9
-
44
-
-
0025646136
-
Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: Implications for cell and gene therapy
-
(1990)
Somatic Cell Mol Genet
, vol.16
, pp. 557-565
-
-
Webster, C.1
Blau, H.M.2
-
47
-
-
0032788380
-
Extracorporeal circulation as a new experimental pathway for myoblast implantation in mdx mice
-
(1999)
Cell Transplant
, vol.8
, pp. 247-258
-
-
Torrente, Y.1
D'Angelo, M.G.2
Del Bo, R.3
DeLiso, A.4
Casati, R.5
Benti, R.6
Corti, S.7
Comi, G.P.8
Gerundini, P.9
Anichini, A.10
Scarlato, G.11
Bresolin, N.12
-
49
-
-
0033598374
-
Dystrophin expression in the mdx mouse restored by stem cell transplantation
-
(1999)
Nature
, vol.401
, pp. 390-394
-
-
Gussoni, E.1
Soneoka, Y.2
Strickland, C.D.3
Buzney, E.A.4
Khan, M.K.5
Flint, A.F.6
Kunkel, L.M.7
Mulligan, R.C.8
-
55
-
-
0025887093
-
Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs
-
(1991)
Nature
, vol.352
, pp. 815-818
-
-
Acsadi, G.1
Dickson, G.2
Love, D.R.3
Jani, A.4
Walsh, F.S.5
Gurusinghe, A.6
Wolff, J.A.7
Davies, K.E.8
-
56
-
-
0027408847
-
Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice
-
(1993)
Nature
, vol.361
, pp. 647-650
-
-
Ragot, T.1
Vincent, N.2
Chafey, P.3
Vigne, E.4
Gilgenkrantz, H.5
Couton, D.6
Cartaud, J.7
Briand, P.8
Kaplan, J.C.9
Perricaudet, M.10
-
57
-
-
0027362435
-
Long-term correction of mouse dystrophic degeneration by adenovirus-mediated transfer of a minidystrophin gene
-
(1993)
Nature Genet
, vol.5
, pp. 130-134
-
-
Vincent, N.1
Ragot, T.2
Gilgenkrantz, H.3
Couton, D.4
Chafey, P.5
Gregoire, A.6
Briand, P.7
Kaplan, J.C.8
Kahn, A.9
Perricaudet, M.10
-
59
-
-
0029963688
-
Impairment of force generation after adenovirus-mediated gene transfer to muscle is alleviated by adenoviral gene inactivation and host CD8+ T-cell deficiency
-
(1996)
Hum Gene Ther
, vol.7
, pp. 1813-1826
-
-
Petrof, B.J.1
Lochmuller, H.2
Massie, B.3
Yang, L.4
Macmillan, C.5
Zhao, J.E.6
Nalbantoglu, J.7
Karpati, G.8
-
62
-
-
0029962474
-
In vivo expression of full length human dystrophin from adenoviral vectors deleted of all viral genes
-
(1996)
Hum Gene Ther
, vol.57
, pp. 1907-1914
-
-
Haecker, S.E.1
Stedman, H.H.2
Balice-Gordon, R.J.3
Smith, D.B.4
Greelish, J.P.5
Mitchell, M.A.6
Wells, A.7
Sweeney, H.L.8
Wilson, J.M.9
-
63
-
-
14344276590
-
An Improved helper-dependent adenoviral vector allows persistent gene expression after intramuscular delivery and overcomes preexisting immunity to adenovirus
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 5986-5991
-
-
Maione, D.1
Rocca, C.D.2
Giannetti, P.3
D'Arrigo, R.4
Liberatoscioli, L.5
Franlin, L.L.6
Sandig, V.7
Ciliberto, G.8
La Monica, N.9
Savino, R.10
-
64
-
-
0033154485
-
Herpes simplex virus vector-mediated dystrophin gene transfer and expression in mdx mouse skeletal muscle
-
(1999)
J Gene Med
, vol.1
, pp. 280-289
-
-
Akkaraju, G.R.1
Huard, J.2
Hoffman, E.P.3
Goins, W.F.4
Pruchnic, R.5
Watkins, S.C.6
Cohen, J.B.7
Glorioso, J.C.8
-
66
-
-
0034689207
-
Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: α-, β-, γ-, or δ-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors
-
(2000)
Hum Gene Ther
, vol.11
, pp. 777-790
-
-
Stedman, H.1
Wilson, J.M.2
Finke, R.3
Kleckner, A.L.4
Mendell, J.5
-
67
-
-
0034050904
-
Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector
-
(2000)
Nature Genet
, vol.24
, pp. 257-261
-
-
Kay, M.A.1
Manno, C.S.2
Ragni, M.V.3
Larson, P.J.4
Couto, L.B.5
McClelland, A.6
Gladner, B.7
Chew, A.J.8
Tai, S.J.9
Herzog, R.W.10
Arruda, V.11
Johnson, F.12
Scallan, C.13
Skarsgard, E.14
Flake, A.W.15
High, K.A.16
-
68
-
-
0029843596
-
Efficient long-term gene transfer into muscle tissue of immunocompetent mice by adenoassociated virus vector
-
(1996)
J Virol
, vol.70
, pp. 8098-8108
-
-
Xiao, X.1
Li, J.2
Samulski, R.J.3
-
69
-
-
0031058024
-
Recombinant adeno-associated virus for muscle directed gene therapy
-
(1997)
Nature Med
, vol.3
, pp. 306-312
-
-
Fisher, K.J.1
Jooss, K.2
Alston, J.3
Yang, Y.4
Haecker, S.E.5
High, K.6
Pathak, R.7
Raper, S.E.8
Wilson, J.M.9
-
72
-
-
0034138226
-
Rescue of skeletal muscles of γ-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer
-
(2000)
Mol Therapy
, vol.1
, pp. 119-129
-
-
Cordier, L.1
Hack, A.A.2
Scott, M.O.3
Barton-Davis, E.R.4
Gao, G.5
Wilson, J.M.6
McNally, E.M.7
Sweeney, H.L.8
-
73
-
-
0033795497
-
Immune rejection of human dystrophin following intramuscular injections of naked DNA in mdx mice
-
(2000)
Gene Ther
, vol.7
, pp. 1447-1457
-
-
Braun, S.1
Thioudellet, C.2
Rodriguez, P.3
Ali-Hadji, D.4
Perraud, F.5
Accart, N.6
Balloul, J.M.7
Halluard, C.8
Acres, B.9
Cavallini, B.10
Pavirani, A.11
-
76
-
-
0034151775
-
Role of vector in activation of T-cell subsets in immune responses against the secreted transgene product factor IX
-
(2000)
Mol Therapy
, vol.1
, pp. 225-235
-
-
Fields, P.A.1
Kowalczyk, D.W.2
Arruda, V.R.3
Armstrong, E.4
McCleland, M.L.5
Hagstrom, J.N.6
Pasi, K.J.7
Ertl, H.C.8
Herzog, R.W.9
High, K.A.10
-
82
-
-
0025217703
-
Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility
-
(1990)
J Biol Chem
, vol.265
, pp. 4560-4566
-
-
Koenig, M.1
Kunkel, L.M.2
-
83
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
-
(1989)
Am J Hum Genet
, vol.45
, pp. 498-506
-
-
Koenig, M.1
Beggs, A.H.2
Moyer, M.3
Scherpf, S.4
Heindrich, K.5
Bettecken, T.6
Meng, G.7
Muller, C.R.8
Lindlof, M.9
Kaariainen, H.10
|