-
1
-
-
0021358756
-
Duchenne muscular dystrophy: Pathogenic aspects and genetic prevention
-
Moser,H. (1984) Duchenne muscular dystrophy: pathogenic aspects and genetic prevention. Hum. Genet, 66, 17-40.
-
(1984)
Hum. Genet
, vol.66
, pp. 17-40
-
-
Moser, H.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,E.P., Bertelson,C.J., Monaco,A.P., Feener,C. and Kunkel,L.M. (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell, 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
-
-
0026714803
-
Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR
-
Roberts,R.G., Coffey,A.J., Bobrow,M. and Bentley,D.R. (1992) Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. Genomics, 13, 942-950.
-
(1992)
Genomics
, vol.13
, pp. 942-950
-
-
Roberts, R.G.1
Coffey, A.J.2
Bobrow, M.3
Bentley, D.R.4
-
4
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig,M., Monaco,A.R and Kunkel,L.M. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell, 53, 219-226.
-
(1988)
Cell
, vol.53
, pp. 219-226
-
-
Koenig, M.1
Monaco, A.R.2
Kunkel, L.M.3
-
5
-
-
0023877613
-
Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide
-
Arahata,K., Ishiura,S., Ishiguro,T., Tsukahara,T., Suhara,Y., Eguchi,C., Ishihara,T., Nonaka,I., Ozawa,E. and Sugita,H. (1988) Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature, 333, 861-863.
-
(1988)
Nature
, vol.333
, pp. 861-863
-
-
Arahata, K.1
Ishiura, S.2
Ishiguro, T.3
Tsukahara, T.4
Suhara, Y.5
Eguchi, C.6
Ishihara, T.7
Nonaka, I.8
Ozawa, E.9
Sugita, H.10
-
6
-
-
0023925292
-
The Duchenne muscular gene product is localized in the sarcolemma of human skeletal muscle
-
Zubrzycka-Gaarn,E.E., Bulman,D.E., Karpati,G., Burghes,A.H.M., Belfall,B., Klamut,H.J., Talbot,J., Hodges,R.S., Ray,P.N. and Worton,R.G. (1988) The Duchenne muscular gene product is localized in the sarcolemma of human skeletal muscle. Nature, 333, 466-469.
-
(1988)
Nature
, vol.333
, pp. 466-469
-
-
Zubrzycka-Gaarn, E.E.1
Bulman, D.E.2
Karpati, G.3
Burghes, A.H.M.4
Belfall, B.5
Klamut, H.J.6
Talbot, J.7
Hodges, R.S.8
Ray, P.N.9
Worton, R.G.10
-
7
-
-
0024300196
-
Immunoelectron microscopic localization of dystrophin in myofibers
-
Watkins,S.C., Hoffman,E.P., Slayter,H.S. and Kunkel,L.M. (1988) Immunoelectron microscopic localization of dystrophin in myofibers. Nature, 333, 863-866.
-
(1988)
Nature
, vol.333
, pp. 863-866
-
-
Watkins, S.C.1
Hoffman, E.P.2
Slayter, H.S.3
Kunkel, L.M.4
-
8
-
-
0025021669
-
Dystrophin gene transcribed from different promoters in neuronal and glial cells
-
Chelly, J., Hamard,G., Koulakoff,A., Kaplan,J.C., Kahn,A. and Berwald Netter,Y. (1990) Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature, 344, 64-65.
-
(1990)
Nature
, vol.344
, pp. 64-65
-
-
Chelly, J.1
Hamard, G.2
Koulakoff, A.3
Kaplan, J.C.4
Kahn, A.5
Berwald Netter, Y.6
-
9
-
-
0026937998
-
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
-
Gorecki,D., Monaco,A., Derry,J., Walker,A., Barnard,E. and Barnard,P. (1992) Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum. Mol. Genet., 1, 505-510.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 505-510
-
-
Gorecki, D.1
Monaco, A.2
Derry, J.3
Walker, A.4
Barnard, E.5
Barnard, P.6
-
10
-
-
0026653859
-
A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues
-
Lederfein,D., Levy,Z., Augier,N., Mornet,D., Morris,G., Fuchs,O. and Yaffe,D. (1992) A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc. Natl. Acad. Sci. USA, 89, 5346-5350.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 5346-5350
-
-
Lederfein, D.1
Levy, Z.2
Augier, N.3
Mornet, D.4
Morris, G.5
Fuchs, O.6
Yaffe, D.7
-
11
-
-
0027214837
-
An alternative dystrophin transcript specific to peripheral nerve
-
Byers,T., Lidov,H. and Kunkel,L. (1993) An alternative dystrophin transcript specific to peripheral nerve. Nature Genet., 4, 77-81
-
(1993)
Nature Genet.
, vol.4
, pp. 77-81
-
-
Byers, T.1
Lidov, H.2
Kunkel, L.3
-
12
-
-
0028937525
-
Dp140: A novel 140 kDa CNS transcript from the dystrophin locus
-
Lidov,H.G.W., Selig,S. and Kunkel,L.M. (1995) Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum. Mol. Genet., 4, 329-335.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 329-335
-
-
Lidov, H.G.W.1
Selig, S.2
Kunkel, L.M.3
-
13
-
-
0029061752
-
A novel dystrophin isoform is required for normal retinal electrophysiology
-
D'Souza,V.N., Nguyen,T.M., Morris,G.E., Karges,W., Pillers,D.A. and Ray,P.N. (1995) A novel dystrophin isoform is required for normal retinal electrophysiology. Hum. Mol. Genet., 4, 837-842.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 837-842
-
-
D'Souza, V.N.1
Nguyen, T.M.2
Morris, G.E.3
Karges, W.4
Pillers, D.A.5
Ray, P.N.6
-
14
-
-
0024415978
-
Immunohistochemical dystrophin reaction in synaptic regions
-
Miike,T., Miyatake,M., Zhao,J., Yoshioka,K. and Uchino,M. (1989) Immunohistochemical dystrophin reaction in synaptic regions. Brain Der., 11, 344-346.
-
(1989)
Brain Der.
, vol.11
, pp. 344-346
-
-
Miike, T.1
Miyatake, M.2
Zhao, J.3
Yoshioka, K.4
Uchino, M.5
-
15
-
-
0027172743
-
Dystrophin expressed in the retina is required for normal function as defined by electroretinography
-
Pillers,D.M., Bulman,D.E., Weleber,R.G., Sigesmund,D.A., Musarella,M.A., Powell,B.R., Murphey,W.H., Westall,C., Panton,C., Becker,L.E., Worton,R.G. and Ray,P.N. (1993) Dystrophin expressed in the retina is required for normal function as defined by electroretinography. Nature Genet., 4, 82-86.
-
(1993)
Nature Genet.
, vol.4
, pp. 82-86
-
-
Pillers, D.M.1
Bulman, D.E.2
Weleber, R.G.3
Sigesmund, D.A.4
Musarella, M.A.5
Powell, B.R.6
Murphey, W.H.7
Westall, C.8
Panton, C.9
Becker, L.E.10
Worton, R.G.11
Ray, P.N.12
-
16
-
-
0027731507
-
The effect of dystrophin gene mutations on the ERG in mice and humans
-
Cibis,G.W., Fitzgerald,K.M., Harris,D.J., Rothberg,P.G. and Rupani,M. (1993) The effect of dystrophin gene mutations on the ERG in mice and humans. Invest. Ophthalmol. Vision Sci., 34, 3646-3652.
-
(1993)
Invest. Ophthalmol. Vision Sci.
, vol.34
, pp. 3646-3652
-
-
Cibis, G.W.1
Fitzgerald, K.M.2
Harris, D.J.3
Rothberg, P.G.4
Rupani, M.5
-
17
-
-
0028365352
-
Retinal signal transmission in Duchenne muscular dystrophy: Evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway
-
Fitzgerald,K.M., Cibis,G.W., Giambrone,S.A. and Harris,D.J. (1994) Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway. J. Clin. Invest., 93, 2425-2430.
-
(1994)
J. Clin. Invest.
, vol.93
, pp. 2425-2430
-
-
Fitzgerald, K.M.1
Cibis, G.W.2
Giambrone, S.A.3
Harris, D.J.4
-
18
-
-
0028246265
-
Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy
-
Sigesmund,D.A., Weleber,R.G., Pillers,D.M., Westall,C.A., Panton,C.M., Powell,B.R., Heon,E., Murphey,W.H., Musarella,M.A. and Ray,P.N. (1994) Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. Ophthalmology, 101, 856-865.
-
(1994)
Ophthalmology
, vol.101
, pp. 856-865
-
-
Sigesmund, D.A.1
Weleber, R.G.2
Pillers, D.M.3
Westall, C.A.4
Panton, C.M.5
Powell, B.R.6
Heon, E.7
Murphey, W.H.8
Musarella, M.A.9
Ray, P.N.10
-
19
-
-
0028065310
-
Correlation between electroretinogram findings and molecular analysis in the Duchenne muscular dystrophy phenotype
-
DeBecker,I., Riddell,D.C., Dooley,J.M. and Tremblay,F. (1994) Correlation between electroretinogram findings and molecular analysis in the Duchenne muscular dystrophy phenotype. Br. J. Ophthalmol, 78, 719-722.
-
(1994)
Br. J. Ophthalmol
, vol.78
, pp. 719-722
-
-
DeBecker, I.1
Riddell, D.C.2
Dooley, J.M.3
Tremblay, F.4
-
20
-
-
9844239881
-
The b-wave of the electroretinogram: A reflection of on bipolar cell activity
-
Stockton,R.A. and Slaughter,M.M. (1989) The b-wave of the electroretinogram: a reflection of ON bipolar cell activity. J. Gen. Physiol., 61, 1233-1243.
-
(1989)
J. Gen. Physiol.
, vol.61
, pp. 1233-1243
-
-
Stockton, R.A.1
Slaughter, M.M.2
-
22
-
-
0025192329
-
+-evoked Müller cell depolarization generates b-wave of electroretinogram in toad retina
-
+-evoked Müller cell depolarization generates b-wave of electroretinogram in toad retina. Proc. Natl. Acad. Sci. USA, 87, 2117-21.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 2117-2121
-
-
Wen, R.1
Oakley, B.2
-
23
-
-
0027466563
-
Dystrophin isoforms expressed in the mouse retina
-
Tamura,T., Yoshioka,K., Jinno,Y., Niikawa,N. and Miike,T. (1993) Dystrophin isoforms expressed in the mouse retina. J. Neurol. Sci., 115, 214-218.
-
(1993)
J. Neurol. Sci.
, vol.115
, pp. 214-218
-
-
Tamura, T.1
Yoshioka, K.2
Jinno, Y.3
Niikawa, N.4
Miike, T.5
-
24
-
-
0028981331
-
Cv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy
-
Cv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy. Invest. Ophthalmol. Vision Sci., 36, 462-466.
-
(1995)
Invest. Ophthalmol. Vision Sci.
, vol.36
, pp. 462-466
-
-
Pillers, D.M.1
Weleber, R.G.2
Woodward, W.R.3
Green, D.G.4
Chapman, V.M.5
Ray, P.N.6
-
25
-
-
0031577559
-
Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy
-
in press
-
Araki,E., Nakamura,K., Nakao,K., Kameya,S., Kohayashi,O., Nonaka,I., Kobayashi,T. and Katsuki,M. (1997) Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy. Biochem. Biophys. Res. Commun., in press.
-
(1997)
Biochem. Biophys. Res. Commun.
-
-
Araki, E.1
Nakamura, K.2
Nakao, K.3
Kameya, S.4
Kohayashi, O.5
Nonaka, I.6
Kobayashi, T.7
Katsuki, M.8
-
26
-
-
0028218968
-
Developmentally regulated postsynaptic localization of metabotropic glutamate receptor in rat rod bipolar cells
-
Nomura,A., Shigemoto,R., Nakamura,Y., Okamoto,N., Mizuno,N. and Nakanishi,S. (1994) Developmentally regulated postsynaptic localization of metabotropic glutamate receptor in rat rod bipolar cells. Cell, 77, 361-369.
-
(1994)
Cell
, vol.77
, pp. 361-369
-
-
Nomura, A.1
Shigemoto, R.2
Nakamura, Y.3
Okamoto, N.4
Mizuno, N.5
Nakanishi, S.6
-
27
-
-
0028937683
-
Specific deficit of the on response in visual transmission by targeted disruption of the mGluR6 gene
-
Masu,M., Iwakabe,H., Tagawa,Y., Miyoshi,T., Yamashita,M., Fukuda,Y., Sasaki,H., Hiroi,K., Nakamura,Y., Shigemoto,R., Takada,M., Nakamura,K., Nakao,K., Katsuki,M. and Nakanishi,S. (1995) Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene. Cell, 80, 757-765.
-
(1995)
Cell
, vol.80
, pp. 757-765
-
-
Masu, M.1
Iwakabe, H.2
Tagawa, Y.3
Miyoshi, T.4
Yamashita, M.5
Fukuda, Y.6
Sasaki, H.7
Hiroi, K.8
Nakamura, Y.9
Shigemoto, R.10
Takada, M.11
Nakamura, K.12
Nakao, K.13
Katsuki, M.14
Nakanishi, S.15
-
28
-
-
0028877307
-
Dystroglycan expression in the wild-type and mdx mouse neural retina: Synaptic co-localization with dystrophin, dystrophin-related protein hut not laminin
-
Montanaro,S., Carbonetto,S., Campbell,K.P. and Lindenbaum,M. (1995) Dystroglycan expression in the wild-type and mdx mouse neural retina: synaptic co-localization with dystrophin, dystrophin-related protein hut not laminin. J. Neurosci. Res., 42, 528-538.
-
(1995)
J. Neurosci. Res.
, vol.42
, pp. 528-538
-
-
Montanaro, S.1
Carbonetto, S.2
Campbell, K.P.3
Lindenbaum, M.4
-
29
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti,J.M. and Campbell,K.P. (1991) Membrane organization of the dystrophin-glycoprotein complex. Cell, 66, 1121-1131.
-
(1991)
Cell
, vol.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
30
-
-
0028914964
-
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
-
Campbell,K.P. (1995) Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell, 80, 675-679.
-
(1995)
Cell
, vol.80
, pp. 675-679
-
-
Campbell, K.P.1
-
31
-
-
0029888512
-
Dystrophin and the dystrophin-associated glycoprotein, β-dystroglycan, co-localize in photoreceptor synaptic complexes of the human retina
-
Drenckhahn,D., Holbach,M., Ness,W., Schmitz,F. and Anderson,L.V.B. (1996) Dystrophin and the dystrophin-associated glycoprotein, β-dystroglycan, co-localize in photoreceptor synaptic complexes of the human retina. Neuroscience, 72, 605-612.
-
(1996)
Neuroscience
, vol.72
, pp. 605-612
-
-
Drenckhahn, D.1
Holbach, M.2
Ness, W.3
Schmitz, F.4
Anderson, L.V.B.5
-
32
-
-
0027739691
-
Characterization and subcellular localization of the dystrophin-protein 71 (Dp71) from brain
-
Jung,D., Filliol,D., Metz-Boutigue,M.H. and Rendon,A. (1993) Characterization and subcellular localization of the dystrophin-protein 71 (Dp71) from brain. Neuromusc. Disorders, 3, 515-518.
-
(1993)
Neuromusc. Disorders
, vol.3
, pp. 515-518
-
-
Jung, D.1
Filliol, D.2
Metz-Boutigue, M.H.3
Rendon, A.4
-
33
-
-
0028133595
-
Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: Expression during mouse embryogenesis and in cultured cell line
-
Schofield,J.N., Blake,D.J., Simmons,C., Morris,G.E., Tinsley,J.M., Davies,K.E. and Edwards,Y.H. (1994) Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell line. Hum. Mol. Genet., 3, 1309-1316.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1309-1316
-
-
Schofield, J.N.1
Blake, D.J.2
Simmons, C.3
Morris, G.E.4
Tinsley, J.M.5
Davies, K.E.6
Edwards, Y.H.7
-
34
-
-
0025985336
-
Structure of the macroglia of the retina: Sharing and division of labour between astrocytes and Müller cells
-
Horstmär,H., Makarov,F., Dreher,Z., Driel,D.V., Chan-Ling,T. and Stone,J. (1991) Structure of the macroglia of the retina: sharing and division of labour between astrocytes and Müller cells. J. Comp. Neurol., 313, 587-603
-
(1991)
J. Comp. Neurol.
, vol.313
, pp. 587-603
-
-
Horstmär, H.1
Makarov, F.2
Dreher, Z.3
Driel, D.V.4
Chan-Ling, T.5
Stone, J.6
-
35
-
-
0024242853
-
Ultrastructure of the skeletal muscle in the X chromosome-linked dystrophic (mdx) mouse. Comparison with Duchenne muscylar dystrophy
-
Cullen,M.J. and Jaros,E. (1988) Ultrastructure of the skeletal muscle in the X chromosome-linked dystrophic (mdx) mouse. Comparison with Duchenne muscylar dystrophy. Acta Neuropathol., 77, 69-81.
-
(1988)
Acta Neuropathol.
, vol.77
, pp. 69-81
-
-
Cullen, M.J.1
Jaros, E.2
-
36
-
-
0031036977
-
Subtle neuromuscular defects in utrophin-deficient mice
-
Grady,R.M., Merlie,J.P. and Sanes,J.R. (1997) Subtle neuromuscular defects in utrophin-deficient mice. J. Cell Biol., 136, 871-882.
-
(1997)
J. Cell Biol.
, vol.136
, pp. 871-882
-
-
Grady, R.M.1
Merlie, J.P.2
Sanes, J.R.3
-
37
-
-
8044260252
-
Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice
-
Deconinck,A.E., Potter,A.C., Tinsley,J.M., Wood,S.J., Vater,L., Young,C., Metzinger,L., Vincent,A., Slater,C.R. and Davies,K.E. (1997) Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice. J. Cell Biol., 136, 883-894.
-
(1997)
J. Cell Biol.
, vol.136
, pp. 883-894
-
-
Deconinck, A.E.1
Potter, A.C.2
Tinsley, J.M.3
Wood, S.J.4
Vater, L.5
Young, C.6
Metzinger, L.7
Vincent, A.8
Slater, C.R.9
Davies, K.E.10
-
38
-
-
0029050847
-
Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsin-deficient mice
-
Gautam,M., Noakes,P.G., Mudd,J., Nichol,M., Chu,G.C., Sanes,J.R. and Merlie,J.P. (1995) Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsin-deficient mice. Nature, 377, 232-236.
-
(1995)
Nature
, vol.377
, pp. 232-236
-
-
Gautam, M.1
Noakes, P.G.2
Mudd, J.3
Nichol, M.4
Chu, G.C.5
Sanes, J.R.6
Merlie, J.P.7
-
39
-
-
0029893117
-
Defective neuromuscular synaptogenesis in agrin-deficient mutant mice
-
Gautam,M., Noakes,P.G., Moscoso,L.,Rupp,F., Scheller,R.H., Merlie,J.P. and Sanes,J.R. (1996) Defective neuromuscular synaptogenesis in agrin-deficient mutant mice. Cell 85, 525-535.
-
(1996)
Cell
, vol.85
, pp. 525-535
-
-
Gautam, M.1
Noakes, P.G.2
Moscoso, L.3
Rupp, F.4
Scheller, R.H.5
Merlie, J.P.6
Sanes, J.R.7
-
40
-
-
15844417385
-
The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo
-
DiChiara,T.M., Bowen,D.C., Valenzuela,D.M., Simmons,M.V., Poueymirou,W.T., Thomas,S., Kinetz,E., Compton,D.L., Rojas,E., Park,J.S., Smith,C., DiStefano,P.S., GlassD.J., Burden,S.J. and Yancopoulos,G.D. (1996) The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. Cell, 85, 501-512.
-
(1996)
Cell
, vol.85
, pp. 501-512
-
-
DiChiara, T.M.1
Bowen, D.C.2
Valenzuela, D.M.3
Simmons, M.V.4
Poueymirou, W.T.5
Thomas, S.6
Kinetz, E.7
Compton, D.L.8
Rojas, E.9
Park, J.S.10
Smith, C.11
DiStefano, P.S.12
Glass, D.J.13
Burden, S.J.14
Yancopoulos, G.D.15
|