-
1
-
-
0024332141
-
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
-
Hoffman EP, Kunkel LM. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 1989; 2: 1019-1029.
-
(1989)
Neuron
, vol.2
, pp. 1019-1029
-
-
Hoffman, E.P.1
Kunkel, L.M.2
-
3
-
-
0035494438
-
A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice
-
Wehling M, Spencer MJ, Tidball JG. A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. J Cell Biol 2001; 155: 123-131.
-
(2001)
J Cell Biol
, vol.155
, pp. 123-131
-
-
Wehling, M.1
Spencer, M.J.2
Tidball, J.G.3
-
4
-
-
0034610326
-
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy
-
Sander M, Chavoshan B, Harris SA, Iannaccone ST, Stull JT, Thomas GD, Victor RG. Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. Proc Natl Acad Sci U S A 2000; 97: 13818-13823.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 13818-13823
-
-
Sander, M.1
Chavoshan, B.2
Harris, S.A.3
Iannaccone, S.T.4
Stull, J.T.5
Thomas, G.D.6
Victor, R.G.7
-
5
-
-
0027930406
-
Dystrophin-deficient myofibers are vulnerable to mast cell granule-induced necrosis
-
Gorospe JR, Tharp M, Demitsu T, Hoffman EP. Dystrophin-deficient myofibers are vulnerable to mast cell granule-induced necrosis. Neuromuscul Disord 1994; 4: 325-333.
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 325-333
-
-
Gorospe, J.R.1
Tharp, M.2
Demitsu, T.3
Hoffman, E.P.4
-
6
-
-
0028260216
-
Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy
-
D'Amore PA, Brown RH Jr, Ku PT, Hoffman EP, Watanabe H, Arahata K, Ishihara T, Folkman J. Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy. Ann Neurol 1994; 35: 362-365.
-
(1994)
Ann Neurol
, vol.35
, pp. 362-365
-
-
D'Amore, P.A.1
Brown, R.H.2
Ku, P.T.3
Hoffman, E.P.4
Watanabe, H.5
Arahata, K.6
Ishihara, T.7
Folkman, J.8
-
7
-
-
0002978451
-
Pathophysiology of dystrophin deficiency: A biological and clinical enigma
-
In: Brown SC, Lucy JA, editors. UK: Cambridge University Press
-
Gorospe JR, Nishikawa BK, Hoffman EP. Pathophysiology of dystrophin deficiency: A biological and clinical enigma. In: Brown SC, Lucy JA, editors. Dystrophin: Gene, Protein and Cell Biology. UK: Cambridge University Press; 1997, pp. 201-232.
-
(1997)
Dystrophin: Gene, Protein and Cell Biology
, pp. 201-232
-
-
Gorospe, J.R.1
Nishikawa, B.K.2
Hoffman, E.P.3
-
8
-
-
0024353559
-
The molecular basis of muscular dystrophy in the mdx mouse: A point mutation
-
Sicinski P, Geng Y, Ryder-Cook AS, Barnard EA, Darlison MG, Barnard PJ. The molecular basis of muscular dystrophy in the mdx mouse: A point mutation. Science 1989; 244: 1578-1580.
-
(1989)
Science
, vol.244
, pp. 1578-1580
-
-
Sicinski, P.1
Geng, Y.2
Ryder-Cook, A.S.3
Barnard, E.A.4
Darlison, M.G.5
Barnard, P.J.6
-
9
-
-
30344435305
-
Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors
-
Blankinship MJ, Gregorevic P, Chamberlain JS. Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors. Mol Ther 2006; 13: 241-249.
-
(2006)
Mol Ther
, vol.13
, pp. 241-249
-
-
Blankinship, M.J.1
Gregorevic, P.2
Chamberlain, J.S.3
-
10
-
-
0036127393
-
Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy
-
Harper SQ, Hauser MA, DelloRusso C, Duan D, Crawford RW, Phelps SF, Harper HA, Robinson AS, Engelhardt JF, Brooks SV, Chamberlain JS. Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy. Nat Med 2002; 8: 253-2561.
-
(2002)
Nat Med
, vol.8
, pp. 253-2561
-
-
Harper, S.Q.1
Hauser, M.A.2
DelloRusso, C.3
Duan, D.4
Crawford, R.W.5
Phelps, S.F.6
Harper, H.A.7
Robinson, A.S.8
Engelhardt, J.F.9
Brooks, S.V.10
Chamberlain, J.S.11
-
11
-
-
33745894322
-
rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice
-
Gregorevic P, Allen JM, Minami E, Blankinship MJ, Haraguchi M, Meuse L, Finn E, Adams ME, Froehner SC, Murry CE, Chamberlain JS. rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice. Nat Med 2006; 12: 787-789.
-
(2006)
Nat Med
, vol.12
, pp. 787-789
-
-
Gregorevic, P.1
Allen, J.M.2
Minami, E.3
Blankinship, M.J.4
Haraguchi, M.5
Meuse, L.6
Finn, E.7
Adams, M.E.8
Froehner, S.C.9
Murry, C.E.10
Chamberlain, J.S.11
-
12
-
-
34247548785
-
Golgi complex organization in skeletal muscle: A role for Golgi-mediated glycosylation in muscular dystrophies?
-
Percival JM, Froehner SC. Golgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies? Traffic 2007; 8: 184-194.
-
(2007)
Traffic
, vol.8
, pp. 184-194
-
-
Percival, J.M.1
Froehner, S.C.2
-
13
-
-
0031975699
-
The Golgi apparatus: 100 years of progress and controversy
-
Farquhar MG, Palade GE. The Golgi apparatus: 100 years of progress and controversy. Trends Cell Biol 1998; 8: 2-10.
-
(1998)
Trends Cell Biol
, vol.8
, pp. 2-10
-
-
Farquhar, M.G.1
Palade, G.E.2
-
14
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394: 388-392.
-
(1998)
Nature
, vol.394
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
Matsumura, K.4
Kondo-Iida, E.5
Nomura, Y.6
Segawa, M.7
Yoshioka, M.8
Saito, K.9
Osawa, M.10
Hamano, K.11
Sakakihara, Y.12
Nonaka, I.13
Nakagome, Y.14
Kanazawa, I.15
-
15
-
-
0035212037
-
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
-
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001; 69: 1198-1209.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1198-1209
-
-
Brockington, M.1
Blake, D.J.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
Ponting, C.P.7
Estournet, B.8
Romero, N.B.9
Mercuri, E.10
Voit, T.11
-
16
-
-
18244375299
-
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
-
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001; 10: 2851-2859.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
Herrmann, R.7
Anderson, L.V.8
Bashir, R.9
Burgunder, J.M.10
Fallet, S.11
Romero, N.12
Fardeau, M.13
Straub, V.14
Storey, G.15
-
17
-
-
0034975777
-
Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse
-
Grewal PK, Holzfeind PJ, Bittner RE, Hewitt JE. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet 2001; 28: 151-154.
-
(2001)
Nat Genet
, vol.28
, pp. 151-154
-
-
Grewal, P.K.1
Holzfeind, P.J.2
Bittner, R.E.3
Hewitt, J.E.4
-
18
-
-
0037115482
-
Functional requirements for fukutin-related protein in the Golgi complex
-
Esapa CT, Benson MA, Schroder JE, Martin-Rendon E, Brockington M, Brown SC, Muntoni F, Kroger S, Blake DJ. Functional requirements for fukutin-related protein in the Golgi complex. Hum Mol Genet 2002; 11: 3319-3331.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3319-3331
-
-
Esapa, C.T.1
Benson, M.A.2
Schroder, J.E.3
Martin-Rendon, E.4
Brockington, M.5
Brown, S.C.6
Muntoni, F.7
Kroger, S.8
Blake, D.J.9
-
19
-
-
27244440999
-
Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies
-
Grewal PK, McLaughlan JM, Moore CJ, Browning CA, Hewitt JE. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. Glycobiology 2005; 15: 912-923.
-
(2005)
Glycobiology
, vol.15
, pp. 912-923
-
-
Grewal, P.K.1
McLaughlan, J.M.2
Moore, C.J.3
Browning, C.A.4
Hewitt, J.E.5
-
20
-
-
0033573371
-
The organization of the Golgi complex and microtubules in skeletal muscle is fiber type-dependent
-
Ralston E, Lu Z, Ploug T. The organization of the Golgi complex and microtubules in skeletal muscle is fiber type-dependent. J Neurosci 1999; 19: 10694-10705.
-
(1999)
J Neurosci
, vol.19
, pp. 10694-10705
-
-
Ralston, E.1
Lu, Z.2
Ploug, T.3
-
21
-
-
3042629357
-
The postsynaptic submembrane machinery at the neuromuscular junction: Requirement for rapsyn and the utrophin/dystrophin-associated complex
-
Banks GB, Fuhrer C, Adams ME, Froehner SC. The postsynaptic submembrane machinery at the neuromuscular junction: Requirement for rapsyn and the utrophin/dystrophin-associated complex. J Neurocytol 2003; 32: 709-726.
-
(2003)
J Neurocytol
, vol.32
, pp. 709-726
-
-
Banks, G.B.1
Fuhrer, C.2
Adams, M.E.3
Froehner, S.C.4
-
22
-
-
3042585525
-
Glycobiology of the neuromuscular junction
-
Martin PT. Glycobiology of the neuromuscular junction. J Neurocytol 2003; 32: 915-929.
-
(2003)
J Neurocytol
, vol.32
, pp. 915-929
-
-
Martin, P.T.1
-
23
-
-
0026323638
-
Structure and function of the neuromuscular junction in young adult mdx mice
-
Lyons PR, Slater CR. Structure and function of the neuromuscular junction in young adult mdx mice. J Neurocytol 1991; 20: 969-981.
-
(1991)
J Neurocytol
, vol.20
, pp. 969-981
-
-
Lyons, P.R.1
Slater, C.R.2
-
24
-
-
0031214961
-
Endoplasmic reticulum to Golgi trafficking in multinucleated skeletal muscle fibers
-
Rahkila P, Vaananen K, Saraste J, Metsikko K. Endoplasmic reticulum to Golgi trafficking in multinucleated skeletal muscle fibers. Exp Cell Res 1997; 234: 452-464.
-
(1997)
Exp Cell Res
, vol.234
, pp. 452-464
-
-
Rahkila, P.1
Vaananen, K.2
Saraste, J.3
Metsikko, K.4
-
25
-
-
14644405017
-
Localization and functional analysis of the LARGE family of glycosyltransferases: Significance for muscular dystrophy
-
Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F. Localization and functional analysis of the LARGE family of glycosyltransferases: Significance for muscular dystrophy. Hum Mol Genet 2005; 14: 657-665.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 657-665
-
-
Brockington, M.1
Torelli, S.2
Prandini, P.3
Boito, C.4
Dolatshad, N.F.5
Longman, C.6
Brown, S.C.7
Muntoni, F.8
-
26
-
-
0033080404
-
Role of microtubules in the organization of the Golgi complex
-
Thyberg J, Moskalewski S. Role of microtubules in the organization of the Golgi complex. Exp Cell Res 1999; 246: 263-279.
-
(1999)
Exp Cell Res
, vol.246
, pp. 263-279
-
-
Thyberg, J.1
Moskalewski, S.2
-
27
-
-
0033363996
-
Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases
-
Lumeng C, Phelps S, Crawford GE, Walden PD, Barald K, Chamberlain JS. Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases. Nat Neurosci 1999; 2: 611-617.
-
(1999)
Nat Neurosci
, vol.2
, pp. 611-617
-
-
Lumeng, C.1
Phelps, S.2
Crawford, G.E.3
Walden, P.D.4
Barald, K.5
Chamberlain, J.S.6
-
28
-
-
0029595302
-
Characterization of a cis-Golgi matrix protein, GM130
-
Nakamura N, Rabouille C, Watson R, Nilsson T, Hui N, Slusarewicz P, Kreis TE, Warren G. Characterization of a cis-Golgi matrix protein, GM130. J Cell Biol 1995; 131: 1715-1726.
-
(1995)
J Cell Biol
, vol.131
, pp. 1715-1726
-
-
Nakamura, N.1
Rabouille, C.2
Watson, R.3
Nilsson, T.4
Hui, N.5
Slusarewicz, P.6
Kreis, T.E.7
Warren, G.8
-
29
-
-
0027244942
-
Giantin, a novel conserved Golgi membrane protein containing a cytoplasmic domain of at least 350 kDa
-
Linstedt AD, Hauri HP. Giantin, a novel conserved Golgi membrane protein containing a cytoplasmic domain of at least 350 kDa. Mol Biol Cell 1993; 4: 679-693.
-
(1993)
Mol Biol Cell
, vol.4
, pp. 679-693
-
-
Linstedt, A.D.1
Hauri, H.P.2
-
30
-
-
0037119629
-
Alpha1-syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration
-
Hosaka Y, Yokota T, Miyagoe-Suzuki Y, Yuasa K, Imamura M, Matsuda R, Ikemoto T, Kameya S, Takeda S. Alpha1-syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration. J Cell Biol 2002; 158: 1097-1107.
-
(2002)
J Cell Biol
, vol.158
, pp. 1097-1107
-
-
Hosaka, Y.1
Yokota, T.2
Miyagoe-Suzuki, Y.3
Yuasa, K.4
Imamura, M.5
Matsuda, R.6
Ikemoto, T.7
Kameya, S.8
Takeda, S.9
-
32
-
-
0031984786
-
Infectious clones and vectors derived from adeno-associated virus (AAV) serotypes other than AAV type 2
-
Rutledge EA, Halbert CL, Russell DW. Infectious clones and vectors derived from adeno-associated virus (AAV) serotypes other than AAV type 2. J Virol 1998; 72: 309-319.
-
(1998)
J Virol
, vol.72
, pp. 309-319
-
-
Rutledge, E.A.1
Halbert, C.L.2
Russell, D.W.3
|