-
1
-
-
0026697381
-
The molecular and biochemical basis of duchenne muscular dystrophy
-
Anderson D. M. S. and Kunkel L. M. (1992) The molecular and biochemical basis of Duchenne muscular dystrophy. Trends Biochem. 17, 289-292.
-
(1992)
Trends Biochem.
, vol.17
, pp. 289-292
-
-
Anderson, D.M.S.1
Kunkel, L.M.2
-
2
-
-
0029155684
-
Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex
-
Apel E. D., Roberds S. L., Campbell K. P. and Merlie J. P. (1995) Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex. Neuron 15, 115-126.
-
(1995)
Neuron
, vol.15
, pp. 115-126
-
-
Apel, E.D.1
Roberds, S.L.2
Campbell, K.P.3
Merlie, J.P.4
-
4
-
-
0028321841
-
Identification and purification of an agrin receptor from Torpedo postsynaptic membranes: A heteromeric complex related to the dystroglycans
-
Bowe M. A., Deyst K. A., Leszyk J. D. and Fallon J. R. (1994) Identification and purification of an agrin receptor from Torpedo postsynaptic membranes: a heteromeric complex related to the dystroglycans. Neuron 12, 1173-1180.
-
(1994)
Neuron
, vol.12
, pp. 1173-1180
-
-
Bowe, M.A.1
Deyst, K.A.2
Leszyk, J.D.3
Fallon, J.R.4
-
5
-
-
0025931224
-
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle
-
Byers T. J., Kunkel L. M. and Watkins S. C. (1991) The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. J. Cell Biol. 115, 411-421.
-
(1991)
J. Cell Biol.
, vol.115
, pp. 411-421
-
-
Byers, T.J.1
Kunkel, L.M.2
Watkins, S.C.3
-
6
-
-
0028306787
-
A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering
-
Campanelli J. T., Roberds S. L., Campbell K. P. and Scheller R. H. (1994) A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering. Cell 77, 663-674.
-
(1994)
Cell
, vol.77
, pp. 663-674
-
-
Campanelli, J.T.1
Roberds, S.L.2
Campbell, K.P.3
Scheller, R.H.4
-
7
-
-
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
-
8
-
-
0027731507
-
The effects 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 effects of dystrophin gene mutations on the ERG in mice and humans. Invest. Ophthal. vis. Sci. 34, 3646-3652.
-
(1993)
Invest. Ophthal. Vis. 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
-
9
-
-
0028288481
-
Immunogold localization of the 43-kDa dystroglycan at the plasma membrane in control and dystrophic human muscle
-
Cullen M. J., Walsh J. and Nicholson L. V. B. (1994) Immunogold localization of the 43-kDa dystroglycan at the plasma membrane in control and dystrophic human muscle. Acta Neuropath. 87, 349-354.
-
(1994)
Acta Neuropath.
, vol.87
, pp. 349-354
-
-
Cullen, M.J.1
Walsh, J.2
Nicholson, L.V.B.3
-
10
-
-
0343242231
-
Pathognomonic negative electroretinogram but not congenital stationary night blindness in Duchenne muscular dystrophy
-
Abstr.
-
DeBecker I., Dooley J. and Tremblay F. (1993) Pathognomonic negative electroretinogram but not congenital stationary night blindness in Duchenne muscular dystrophy. Invest. Ophthal. vis. Sci. 34, 1076 (Abstr.).
-
(1993)
Invest. Ophthal. Vis. Sci.
, vol.34
, pp. 1076
-
-
DeBecker, I.1
Dooley, J.2
Tremblay, F.3
-
11
-
-
0029061752
-
A novel dystrophin isoform is required for normal retinal electrophysiology
-
D'Souza V. N., Man N. T., Morris G. E., Karges W., Pillers D. A. M. and Ray P. N. (1995) A novel dystrophin isoform is required for normal retinal electrophysiology. Hum. molec. Genet. 4, 837-842.
-
(1995)
Hum. Molec. Genet.
, vol.4
, pp. 837-842
-
-
D'Souza, V.N.1
Man, N.T.2
Morris, G.E.3
Karges, W.4
Pillers, D.A.M.5
Ray, P.N.6
-
12
-
-
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
-
13
-
-
0343677838
-
Identification of cDNAs encoding two human retinal dystrophin isoforms: Alternative splicing of a complex novel first exon
-
Abstr.
-
Fitzgerald K. M., Heruth D. P., Dowler L. L., Giambrone S. A., Sahni M., Angeloni S. V., Simckes A. M., Cibis G. W., Rothberg P. G. and White R. A. (1995) Identification of cDNAs encoding two human retinal dystrophin isoforms: alternative splicing of a complex novel first exon. Invest. Ophthal. vis. Sci. 36, 771 (Abstr.).
-
(1995)
Invest. Ophthal. Vis. Sci.
, vol.36
, pp. 771
-
-
Fitzgerald, K.M.1
Heruth, D.P.2
Dowler, L.L.3
Giambrone, S.A.4
Sahni, M.5
Angeloni, S.V.6
Simckes, A.M.7
Cibis, G.W.8
Rothberg, P.G.9
White, R.A.10
-
14
-
-
0028178082
-
Dystroglycan-α, a dystrophin-associated glycoprotein, is a functional agrin receptor
-
Gee S. H., Montanaro F., Lindenbaum M. H. and Carbonetto S. (1994) Dystroglycan-α, a dystrophin-associated glycoprotein, is a functional agrin receptor. Cell 77, 675-686.
-
(1994)
Cell
, vol.77
, pp. 675-686
-
-
Gee, S.H.1
Montanaro, F.2
Lindenbaum, M.H.3
Carbonetto, S.4
-
15
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman E. P., Brown R. H. Jr and Kunkel L. M. (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919-928.
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown R.H., Jr.2
Kunkel, L.M.3
-
16
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya O., Ervasti J. M., Leveille C. J., Slaughter C. A., Sernett S. W. and Campbell K. P. (1992) Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 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
-
17
-
-
0026474587
-
Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy
-
Kim T.-W., Wu K., Xu J. L. and Black I. B. (1992) Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy. Proc. natn. Acad. Sci. 89, 11,642-11,644.
-
(1992)
Proc. Natn. Acad. Sci.
, vol.89
, pp. 11642-11644
-
-
Kim, T.-W.1
Wu, K.2
Xu, J.L.3
Black, I.B.4
-
18
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig M., Monaco A. P. and Kunkel L. M. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53, 219-228.
-
(1988)
Cell
, vol.53
, pp. 219-228
-
-
Koenig, M.1
Monaco, A.P.2
Kunkel, L.M.3
-
19
-
-
4244130757
-
Agrin is localized at synapses between CNS neurons
-
Kröger S. and Mann S. (1995) Agrin is localized at synapses between CNS neurons. J. Cell. Biochem. Suppl. 19, 181.
-
(1995)
J. Cell. Biochem. Suppl.
, vol.19
, pp. 181
-
-
Kröger, S.1
Mann, S.2
-
20
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of the bacteriophage T4
-
Laemmli U. K. (1970) Cleavage of structural proteins during the assembly of the head of the bacteriophage T4. Nature 227, 680-685.
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
-
21
-
-
0025648083
-
Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons
-
Lidov H. G. W., Byers T. J., Watkins S. C. and Kunkel L. M. (1990) Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 348, 725-728.
-
(1990)
Nature
, vol.348
, pp. 725-728
-
-
Lidov, H.G.W.1
Byers, T.J.2
Watkins, S.C.3
Kunkel, L.M.4
-
22
-
-
0028937525
-
Dp 140: A novel 140 kDa CNC transcript from the dystrophin locus
-
Lidov H. G. W., Selig S. and Kunkel L. M. (1995) Dp 140: a novel 140 kDa CNC transcript from the dystrophin locus. Hum. molec. Genet. 4, 329-335.
-
(1995)
Hum. Molec. Genet.
, vol.4
, pp. 329-335
-
-
Lidov, H.G.W.1
Selig, S.2
Kunkel, L.M.3
-
23
-
-
0028047235
-
Dystrophin glycoprotein complex: Its role in the molecular pathogenesis of muscular dystrophies
-
Matsumura K. and Campbell K. P. (1994) Dystrophin glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies. Muscle Nerve 17, 2-15.
-
(1994)
Muscle Nerve
, vol.17
, pp. 2-15
-
-
Matsumura, K.1
Campbell, K.P.2
-
24
-
-
0026757138
-
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
-
Matsumura K., Tomé F. M. S., Collin H., Azibi K., Chaouch M., Kaplan J.-C., Fardeau M. and Campbell K. P. (1992) Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 359, 320-322.
-
(1992)
Nature
, vol.359
, pp. 320-322
-
-
Matsumura, K.1
Tomé, F.M.S.2
Collin, H.3
Azibi, K.4
Chaouch, M.5
Kaplan, J.-C.6
Fardeau, M.7
Campbell, K.P.8
-
25
-
-
0024389582
-
Molecules in basal lamina that direct the formation of synaptic specializations at neuromuscular junctions
-
McMahan U. J. and Wallace B. G. (1989) Molecules in basal lamina that direct the formation of synaptic specializations at neuromuscular junctions. Devl Neurosci. 11, 227-247.
-
(1989)
Devl Neurosci.
, vol.11
, pp. 227-247
-
-
McMahan, U.J.1
Wallace, B.G.2
-
26
-
-
0027203989
-
Integrated study of 100 patients with Xp 21 muscular dystrophy using clinical, genetic, immunochemical and histopathological data - I. Trends across the clinical groups
-
Nicholson L. V. B., Johnson M. A., Bushby K. M. D., Gardner-Medwin D., Curtis A., Ginjaar I. B., den Dunnen J. T., Welch J. L., Butler T. J., Bakker E., van Ommen G.-J. B. and Harris J. B. (1993) Integrated study of 100 patients with Xp 21 muscular dystrophy using clinical, genetic, immunochemical and histopathological data - I. Trends across the clinical groups. J. med. Genet. 30, 728-736.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 728-736
-
-
Nicholson, L.V.B.1
Johnson, M.A.2
Bushby, K.M.D.3
Gardner-Medwin, D.4
Curtis, A.5
Ginjaar, I.B.6
Den Dunnen, J.T.7
Welch, J.L.8
Butler, T.J.9
Bakker, E.10
Van Ommen, G.-J.B.11
Harris, J.B.12
-
27
-
-
0026658952
-
Dystrophin or a "related protein" in Duchenne muscular dystrophy?
-
Nicholson L. V. B., Johnson M. A., Davison K., O'Donnell E., Falkous G., Barron M. and Harris J. B. (1992) Dystrophin or a "related protein" in Duchenne muscular dystrophy? Acta neurol. scand. 86, 8-14.
-
(1992)
Acta Neurol. Scand.
, vol.86
, pp. 8-14
-
-
Nicholson, L.V.B.1
Johnson, M.A.2
Davison, K.3
O'Donnell, E.4
Falkous, G.5
Barron, M.6
Harris, J.B.7
-
28
-
-
0029319426
-
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
-
Piccolo F., Roberds S. L., Jeanpierre M., Leturcq F., Azibi K., Beldjord C., Carrié A., Récan D., Chaouch M., Reghis A., El Kerch F., Sefiani A., Voit T., Merlini L., Collin H., Eymard B., Beckmann J. S., Romero N. B., Tomé F. M. S., Fardeau M., Campbell K. P. and Kaplan J. C. (1995) Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet. 10, 243-245.
-
(1995)
Nature Genet.
, vol.10
, pp. 243-245
-
-
Piccolo, F.1
Roberds, S.L.2
Jeanpierre, M.3
Leturcq, F.4
Azibi, K.5
Beldjord, C.6
Carrié, A.7
Récan, D.8
Chaouch, M.9
Reghis, A.10
El Kerch, F.11
Sefiani, A.12
Voit, T.13
Merlini, L.14
Collin, H.15
Eymard, B.16
Beckmann, J.S.17
Romero, N.B.18
Tomé, F.M.S.19
Fardeau, M.20
Campbell, K.P.21
Kaplan, J.C.22
more..
-
29
-
-
0027172743
-
Dystrophin expression in the human retina is required for normal function as defined by electroretinography
-
Pillers De-A. 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 expression in the human retina is required for normal function as defined by electroretinography. Nature Genet. 4, 82-86.
-
(1993)
Nature Genet.
, vol.4
, pp. 82-86
-
-
Pillers, De.-A.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
-
30
-
-
0028981331
-
Mdx (Cv3) mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy
-
Pillers De-A. M., Weleber R. G., Woodward W. R., Green D. G., Chapman V. M. and Ray P. N. (1995) mdx (Cv3) mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy. Invest. Ophthal. vis. Sci. 36, 462-466.
-
(1995)
Invest. Ophthal. Vis. Sci.
, vol.36
, pp. 462-466
-
-
Pillers, De.-A.M.1
Weleber, R.G.2
Woodward, W.R.3
Green, D.G.4
Chapman, V.M.5
Ray, P.N.6
-
31
-
-
0025151979
-
Isolated dystrophin molecules as seen by electron microscopy
-
Pons F., Augier N., Heilig R., Léger J., Mornet D. and Léger J. J. (1990) Isolated dystrophin molecules as seen by electron microscopy. Proc. natn. Acad. Sci. U.S.A. 87, 7851-7855.
-
(1990)
Proc. Natn. Acad. Sci. U.S.A.
, vol.87
, pp. 7851-7855
-
-
Pons, F.1
Augier, N.2
Heilig, R.3
Léger, J.4
Mornet, D.5
Léger, J.J.6
-
32
-
-
0027361264
-
Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)
-
Roberds S. L., Anderson D. R., Ibraghimov-Beskrovnaya O. and Campbell K. P. (1993) Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J. biol. Chem. 268, 23,739-23,742.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 23739-23742
-
-
Roberds, S.L.1
Anderson, D.R.2
Ibraghimov-Beskrovnaya, O.3
Campbell, K.P.4
-
34
-
-
0027772836
-
Colocalization of retinal dystrophin and actin in postsynaptic dendrites of rod and cone photoreceptor synapses
-
Schmitz F., Holbach M. and Drenckhahn D. (1993) Colocalization of retinal dystrophin and actin in postsynaptic dendrites of rod and cone photoreceptor synapses. Histochemistry 100, 473-479.
-
(1993)
Histochemistry
, vol.100
, pp. 473-479
-
-
Schmitz, F.1
Holbach, M.2
Drenckhahn, D.3
-
35
-
-
0028338454
-
Dystrophin-associated proteins and synapse formation: Is α-dystroglycan the agrin receptor?
-
Sealock R. and Froehner S. C. (1994) Dystrophin-associated proteins and synapse formation: is α-dystroglycan the agrin receptor? Cell 77, 617-619.
-
(1994)
Cell
, vol.77
, pp. 617-619
-
-
Sealock, R.1
Froehner, S.C.2
-
36
-
-
0029072703
-
Purification of cranin, a laminin binding membrane protein
-
Smalheiser N. R. and Kim E. (1995) Purification of cranin, a laminin binding membrane protein. J. biol. Chem. 270, 15,425-15,433.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 15425-15433
-
-
Smalheiser, N.R.1
Kim, E.2
-
38
-
-
0009482260
-
Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications
-
Towbin H., Staehelin T. and Gordon J. (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc. natn. Acad. Sci. U.S.A. 76, 4350-4354.
-
(1979)
Proc. Natn. Acad. Sci. U.S.A.
, vol.76
, pp. 4350-4354
-
-
Towbin, H.1
Staehelin, T.2
Gordon, J.3
-
39
-
-
0026331220
-
Dystrophin is a component of the subsynaptic membrane
-
Yeadon J. E., Lin H., Dyer S. M. and Burden S. J. (1991) Dystrophin is a component of the subsynaptic membrane. J. Cell Biol. 115, 1069-1976.
-
(1991)
J. Cell Biol.
, vol.115
, pp. 1069-1976
-
-
Yeadon, J.E.1
Lin, H.2
Dyer, S.M.3
Burden, S.J.4
-
40
-
-
0014141572
-
Psychometric studies in muscular dystrophy type IIIa (Duchenne)
-
Zellweger H. and Hanson J. W. (1967) Psychometric studies in muscular dystrophy type IIIa (Duchenne). Devl Med. Child Neurol. 9, 576-581.
-
(1967)
Devl Med. Child Neurol.
, vol.9
, pp. 576-581
-
-
Zellweger, H.1
Hanson, J.W.2
-
41
-
-
0025726528
-
Dystrophin in control and mdx retina
-
Zhao J., Uchino M., Yoshioka K., Miyatake M. and Miike T. (1991) Dystrophin in control and mdx retina. Brain Dev. 13, 135-137.
-
(1991)
Brain Dev.
, vol.13
, pp. 135-137
-
-
Zhao, J.1
Uchino, M.2
Yoshioka, K.3
Miyatake, M.4
Miike, T.5
|