-
1
-
-
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., et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50 (1987) 509-517
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
-
2
-
-
0023614188
-
Dystrophin: the protein product of the Duchenne muscular dystrophy locus
-
Hoffman E.P., Brown Jr. R.H., and Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51 (1987) 919-928
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown Jr., R.H.2
Kunkel, L.M.3
-
3
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig M., Monaco A.P., and Kunkel L.M. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53 (1988) 219-228
-
(1988)
Cell
, vol.53
, pp. 219-228
-
-
Koenig, M.1
Monaco, A.P.2
Kunkel, L.M.3
-
4
-
-
0027249415
-
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients
-
Nicholson L.V., Johnson M.A., Bushby K.M., et al. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients. J Med Genet 30 (1993) 737-744
-
(1993)
J Med Genet
, vol.30
, pp. 737-744
-
-
Nicholson, L.V.1
Johnson, M.A.2
Bushby, K.M.3
-
5
-
-
0027095821
-
Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy
-
Billard C., Gillet P., Signoret J.L., et al. Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy. Neuromuscul Disord 2 (1992) 371-378
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 371-378
-
-
Billard, C.1
Gillet, P.2
Signoret, J.L.3
-
6
-
-
0026039523
-
Passive avoidance behaviour deficit in the mdx mouse
-
Muntoni F., Mateddu A., and Serra G. Passive avoidance behaviour deficit in the mdx mouse. Neuromuscul Disord 1 (1991) 121-123
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 121-123
-
-
Muntoni, F.1
Mateddu, A.2
Serra, G.3
-
7
-
-
0030604662
-
Spatial learning and hippocampal long-term potentiation are not impaired in mdx mice
-
Sesay A.K., Errington M.L., Levita L., et al. Spatial learning and hippocampal long-term potentiation are not impaired in mdx mice. Neurosci Lett 211 (1996) 207-210
-
(1996)
Neurosci Lett
, vol.211
, pp. 207-210
-
-
Sesay, A.K.1
Errington, M.L.2
Levita, L.3
-
8
-
-
0026695175
-
Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain
-
Suzuki A., Yoshida M., Yamamoto H., et al. Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain. FEBS Lett 308 (1992) 154-160
-
(1992)
FEBS Lett
, vol.308
, pp. 154-160
-
-
Suzuki, A.1
Yoshida, M.2
Yamamoto, H.3
-
9
-
-
0029915066
-
Towards prediction of cognate complexes between the WW domain and proline-rich ligands
-
Einbond A., and Sudol M. Towards prediction of cognate complexes between the WW domain and proline-rich ligands. FEBS Lett 384 (1996) 1-8
-
(1996)
FEBS Lett
, vol.384
, pp. 1-8
-
-
Einbond, A.1
Sudol, M.2
-
10
-
-
0025648083
-
Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons
-
Lidov H.G., Byers T.J., Watkins S.C., et al. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 348 (1990) 725-728
-
(1990)
Nature
, vol.348
, pp. 725-728
-
-
Lidov, H.G.1
Byers, T.J.2
Watkins, S.C.3
-
11
-
-
0028211227
-
Dystrophin and dystrophin-related protein in the brains of normal and mdx mice
-
Uchino M., Yoshioka K., Miike T., et al. Dystrophin and dystrophin-related protein in the brains of normal and mdx mice. Muscle Nerve 17 (1994) 533-538
-
(1994)
Muscle Nerve
, vol.17
, pp. 533-538
-
-
Uchino, M.1
Yoshioka, K.2
Miike, T.3
-
12
-
-
0024332141
-
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
-
Hoffman E.P., and Kunkel L.M. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 2 (1989) 1019-1029
-
(1989)
Neuron
, vol.2
, pp. 1019-1029
-
-
Hoffman, E.P.1
Kunkel, L.M.2
-
13
-
-
33745728934
-
Cognitive impairment in neuromuscular disorders
-
D'Angelo M.G., and Bresolin N. Cognitive impairment in neuromuscular disorders. Muscle Nerve 34 (2006) 16-33
-
(2006)
Muscle Nerve
, vol.34
, pp. 16-33
-
-
D'Angelo, M.G.1
Bresolin, N.2
-
14
-
-
0019482535
-
Intellectual functioning in non-Duchenne muscular dystrophy
-
Karagan N.J., and Sorensen J.P. Intellectual functioning in non-Duchenne muscular dystrophy. Neurology 31 (1981) 448-452
-
(1981)
Neurology
, vol.31
, pp. 448-452
-
-
Karagan, N.J.1
Sorensen, J.P.2
-
15
-
-
0025159208
-
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin
-
England S.B., Nicholson L.V., Johnson M.A., et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 343 (1990) 180-182
-
(1990)
Nature
, vol.343
, pp. 180-182
-
-
England, S.B.1
Nicholson, L.V.2
Johnson, M.A.3
-
16
-
-
0027408847
-
Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice
-
Ragot T., Vincent N., Chafey P., et al. Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice. Nature 361 (1993) 647-650
-
(1993)
Nature
, vol.361
, pp. 647-650
-
-
Ragot, T.1
Vincent, N.2
Chafey, P.3
-
17
-
-
0029122522
-
Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy
-
Wells D.J., Wells K.E., Asante E.A., et al. Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum Mol Genet 4 (1995) 1245-1250
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1245-1250
-
-
Wells, D.J.1
Wells, K.E.2
Asante, E.A.3
-
18
-
-
0029122523
-
Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice
-
Phelps S.F., Hauser M.A., Cole N.M., et al. Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum Mol Genet 4 (1995) 1251-1258
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1251-1258
-
-
Phelps, S.F.1
Hauser, M.A.2
Cole, N.M.3
-
19
-
-
0027457561
-
An adenovirus vector for gene transfer into neurons and glia in the brain
-
Le Gal La Salle G., Robert J.J., Berrard S., et al. An adenovirus vector for gene transfer into neurons and glia in the brain. Science 259 (1993) 988-990
-
(1993)
Science
, vol.259
, pp. 988-990
-
-
Le Gal La Salle, G.1
Robert, J.J.2
Berrard, S.3
-
20
-
-
0030070724
-
Efficient generation of recombinant adenoviruses using adenovirus DNA-terminal protein complex and a cosmid bearing the full-length virus genome
-
Miyake S., Makimura M., Kanegae Y., et al. Efficient generation of recombinant adenoviruses using adenovirus DNA-terminal protein complex and a cosmid bearing the full-length virus genome. Proc Natl Acad Sci USA 93 (1996) 1320-1324
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 1320-1324
-
-
Miyake, S.1
Makimura, M.2
Kanegae, Y.3
-
21
-
-
0017350927
-
Rat hippocampal neurons in dispersed cell culture
-
Banker G.A., and Cowan W.M. Rat hippocampal neurons in dispersed cell culture. Brain Res 126 (1977) 342-397
-
(1977)
Brain Res
, vol.126
, pp. 342-397
-
-
Banker, G.A.1
Cowan, W.M.2
-
22
-
-
0028845388
-
Role of microtubule-associated proteins in the control of microtubule assembly
-
Maccioni R.B., and Cambiazo V. Role of microtubule-associated proteins in the control of microtubule assembly. Physiol Rev 75 (1995) 835-864
-
(1995)
Physiol Rev
, vol.75
, pp. 835-864
-
-
Maccioni, R.B.1
Cambiazo, V.2
-
23
-
-
0026492629
-
The rat brain postsynaptic density fraction contains a homolog of the Drosophila discs-large tumor suppressor protein
-
Cho K.O., Hunt C.A., and Kennedy M.B. The rat brain postsynaptic density fraction contains a homolog of the Drosophila discs-large tumor suppressor protein. Neuron 9 (1992) 929-942
-
(1992)
Neuron
, vol.9
, pp. 929-942
-
-
Cho, K.O.1
Hunt, C.A.2
Kennedy, M.B.3
-
24
-
-
0025162279
-
Torpedo synaptophysin: evolution of a synaptic vesicle protein
-
Cowan D., Linial M., and Scheller R.H. Torpedo synaptophysin: evolution of a synaptic vesicle protein. Brain Res 509 (1990) 1-7
-
(1990)
Brain Res
, vol.509
, pp. 1-7
-
-
Cowan, D.1
Linial, M.2
Scheller, R.H.3
-
25
-
-
0029968217
-
Synthesis of the mammalian synaptic vesicle protein synaptophysin in insect cells: a model for vesicle biogenesis
-
Leimer U., Franke W.W., and Leube R.E. Synthesis of the mammalian synaptic vesicle protein synaptophysin in insect cells: a model for vesicle biogenesis. Exp Cell Res 224 (1996) 88-95
-
(1996)
Exp Cell Res
, vol.224
, pp. 88-95
-
-
Leimer, U.1
Franke, W.W.2
Leube, R.E.3
-
27
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
-
Koenig M., Beggs A.H., Moyer M., et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 45 (1989) 498-506
-
(1989)
Am J Hum Genet
, vol.45
, pp. 498-506
-
-
Koenig, M.1
Beggs, A.H.2
Moyer, M.3
-
28
-
-
0024527173
-
Clinical and molecular studies in Duchenne muscular dystrophy
-
Emery A.E. Clinical and molecular studies in Duchenne muscular dystrophy. Prog Clin Biol Res 306 (1989) 15-28
-
(1989)
Prog Clin Biol Res
, vol.306
, pp. 15-28
-
-
Emery, A.E.1
-
29
-
-
0023877613
-
Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide
-
Arahata K., Ishiura S., Ishiguro T., et al. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 333 (1988) 861-863
-
(1988)
Nature
, vol.333
, pp. 861-863
-
-
Arahata, K.1
Ishiura, S.2
Ishiguro, T.3
-
30
-
-
0023906647
-
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
-
Hoffman E.P., Fischbeck K.H., Brown R.H., et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318 (1988) 1363-1368
-
(1988)
N Engl J Med
, vol.318
, pp. 1363-1368
-
-
Hoffman, E.P.1
Fischbeck, K.H.2
Brown, R.H.3
-
31
-
-
0023925292
-
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
-
Zubrzycka-Gaarn E.E., Bulman D.E., Karpati G., et al. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333 (1988) 466-469
-
(1988)
Nature
, vol.333
, pp. 466-469
-
-
Zubrzycka-Gaarn, E.E.1
Bulman, D.E.2
Karpati, G.3
-
32
-
-
0026596306
-
Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain
-
Hemmings L., Kuhlman P.A., and Critchley D.R. Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain. J Cell Biol 116 (1992) 1369-1380
-
(1992)
J Cell Biol
, vol.116
, pp. 1369-1380
-
-
Hemmings, L.1
Kuhlman, P.A.2
Critchley, D.R.3
-
33
-
-
0028206868
-
Molecular organization at the glycoprotein-complex-binding site of dystrophin. Three dystrophin-associated proteins bind directly to the carboxy-terminal portion of dystrophin
-
Suzuki A., Yoshida M., Hayashi K., et al. Molecular organization at the glycoprotein-complex-binding site of dystrophin. Three dystrophin-associated proteins bind directly to the carboxy-terminal portion of dystrophin. Eur J Biochem 220 (1994) 283-292
-
(1994)
Eur J Biochem
, vol.220
, pp. 283-292
-
-
Suzuki, A.1
Yoshida, M.2
Hayashi, K.3
-
34
-
-
0027190703
-
The distribution of dystrophin in the murine central nervous system: an immunocytochemical study
-
Lidov H.G., Byers T.J., and Kunkel L.M. The distribution of dystrophin in the murine central nervous system: an immunocytochemical study. Neuroscience 54 (1993) 167-187
-
(1993)
Neuroscience
, vol.54
, pp. 167-187
-
-
Lidov, H.G.1
Byers, T.J.2
Kunkel, L.M.3
-
35
-
-
0037096375
-
GABAergic terminals are required for postsynaptic clustering of dystrophin but not of GABA(A) receptors and gephyrin
-
Brunig I., Suter A., Knuesel I., et al. GABAergic terminals are required for postsynaptic clustering of dystrophin but not of GABA(A) receptors and gephyrin. J Neurosci 22 (2002) 4805-4813
-
(2002)
J Neurosci
, vol.22
, pp. 4805-4813
-
-
Brunig, I.1
Suter, A.2
Knuesel, I.3
-
36
-
-
0029061752
-
A novel dystrophin isoform is required for normal retinal electrophysiology
-
D'Souza V.N., Nguyen T.M., Morris G.E., et al. A novel dystrophin isoform is required for normal retinal electrophysiology. Hum Mol Genet 4 (1995) 837-842
-
(1995)
Hum Mol Genet
, vol.4
, pp. 837-842
-
-
D'Souza, V.N.1
Nguyen, T.M.2
Morris, G.E.3
-
37
-
-
0028937525
-
Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
-
Lidov H.G., Selig S., and Kunkel L.M. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet 4 (1995) 329-335
-
(1995)
Hum Mol Genet
, vol.4
, pp. 329-335
-
-
Lidov, H.G.1
Selig, S.2
Kunkel, L.M.3
-
38
-
-
0027214837
-
An alternative dystrophin transcript specific to peripheral nerve
-
Byers T.J., Lidov H.G., and Kunkel L.M. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet 4 (1993) 77-81
-
(1993)
Nat Genet
, vol.4
, pp. 77-81
-
-
Byers, T.J.1
Lidov, H.G.2
Kunkel, L.M.3
-
39
-
-
0026792987
-
Expression of the Duchenne muscular dystrophy gene products in embryonic stem cells and their differentiated derivatives
-
Rapaport D., Fuchs O., Nudel U., et al. Expression of the Duchenne muscular dystrophy gene products in embryonic stem cells and their differentiated derivatives. J Biol Chem 267 (1992) 21289-21292
-
(1992)
J Biol Chem
, vol.267
, pp. 21289-21292
-
-
Rapaport, D.1
Fuchs, O.2
Nudel, U.3
-
40
-
-
0030016360
-
A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave
-
Lenk U., Oexle K., Voit T., et al. A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum Mol Genet 5 (1996) 973-975
-
(1996)
Hum Mol Genet
, vol.5
, pp. 973-975
-
-
Lenk, U.1
Oexle, K.2
Voit, T.3
-
41
-
-
0033920086
-
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening
-
Moizard M.P., Toutain A., Fournier D., et al. Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. Eur J Hum Genet 8 (2000) 552-5526
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 552-5526
-
-
Moizard, M.P.1
Toutain, A.2
Fournier, D.3
-
42
-
-
0028997651
-
Characterization of the mammalian YAP (Yes-associated protein) gene and its role in defining a novel protein module, the WW domain
-
Sudol M., Bork P., Einbond A., et al. Characterization of the mammalian YAP (Yes-associated protein) gene and its role in defining a novel protein module, the WW domain. J Biol Chem 270 (1995) 14733-14741
-
(1995)
J Biol Chem
, vol.270
, pp. 14733-14741
-
-
Sudol, M.1
Bork, P.2
Einbond, A.3
-
43
-
-
0033005157
-
Behavioral characterization of mdx3cv mice deficient in C-terminal dystrophins
-
Vaillend C., and Ungerer A. Behavioral characterization of mdx3cv mice deficient in C-terminal dystrophins. Neuromuscul Disord 9 (1999) 296-304
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 296-304
-
-
Vaillend, C.1
Ungerer, A.2
-
44
-
-
1842429177
-
ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan
-
Ishikawa-Sakurai M., Yoshida M., Imamura M., et al. ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan. Hum Mol Genet 13 (2004) 693-702
-
(2004)
Hum Mol Genet
, vol.13
, pp. 693-702
-
-
Ishikawa-Sakurai, M.1
Yoshida, M.2
Imamura, M.3
|