-
1
-
-
0006782736
-
Central nervous system
-
Motulsky AG (ed) Oxford University Press, New York
-
Emery AEH (1987) Central nervous system. In: Motulsky AG (ed) Duchenne muscular dystrophy 2. Oxford University Press, New York, p 99
-
(1987)
Duchenne Muscular Dystrophy 2
, pp. 99
-
-
Emery, A.E.H.1
-
2
-
-
0027929953
-
Cognitive impairment in Duchenne muscular dystrophy
-
Bresolin N, Castelli E, Comi GP et al (1994) Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul Disord 4:359-369
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 359-369
-
-
Bresolin, N.1
Castelli, E.2
Comi, G.P.3
-
3
-
-
1342282774
-
Specific cognitive deficits are common in children with Duchenne muscular dystrophy
-
Wicksell RK, Kihlgren M, Melin L, Eeg-Olofsson O (2004) Specific cognitive deficits are common in children with Duchenne muscular dystrophy. Dev Med Child Neurol 46:154-159
-
(2004)
Dev Med Child Neurol
, vol.46
, pp. 154-159
-
-
Wicksell, R.K.1
Kihlgren, M.2
Melin, L.3
Eeg-Olofsson, O.4
-
4
-
-
0027095821
-
Cognitive functions in Duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy
-
Billard C, Gillet P, Signoret JL et al (1992) Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy. Neuromuscul Disord 2:371-378
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 371-378
-
-
Billard, C.1
Gillet, P.2
Signoret, J.L.3
-
5
-
-
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 et al (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
-
6
-
-
84856745414
-
Dystrophin Dp71: The smallest but multifunctional product of the Duchenne muscular dystrophy gene
-
doi:10.1007/s12035-011-8218-9
-
Tadayoni R, Renden A, Soria-Jasso LE, Cisneros B (2011) Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene. Mol Neurobiol. doi:10.1007/s12035-011-8218-9
-
(2011)
Mol Neurobiol
-
-
Tadayoni, R.1
Renden, A.2
Soria-Jasso, L.E.3
Cisneros, B.4
-
8
-
-
0033920086
-
Severe cognitive impairment in DMD: Obvious clinical indication for Dp71 isoform point mutation screening
-
Moizard MP, Toutain A, Fournier D et al (2000) Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. Eur J Hum Genet 8:552-556
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 552-556
-
-
Moizard, M.P.1
Toutain, A.2
Fournier, D.3
-
9
-
-
0029877020
-
Dystrophin in the nervous system
-
Lidov HG (1996) Dystrophin in the nervous system. Brain Pathol 6:63-77
-
(1996)
Brain Pathol
, vol.6
, pp. 63-77
-
-
Lidov, H.G.1
-
10
-
-
70349573300
-
Analysis of Dp71 contribution in the severity ofmental retardation through comparison of Duchenne and Becker patients differing bymutation consequences on Dp71 expression
-
Daoud F, Angeard N, Demerre B et al (2009) Analysis of Dp71 contribution in the severity ofmental retardation through comparison of Duchenne and Becker patients differing bymutation consequences on Dp71 expression. Hum Mol Genet 18:3779-3794
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3779-3794
-
-
Daoud, F.1
Angeard, N.2
Demerre, B.3
-
11
-
-
84887212371
-
Clinical heterogeneity of Duchenne muscular dystrophy (DMD): Definition of subphenotypes and predictive criteria by long-term follow-up
-
Desguerre I, Christov C, Mayer M et al (2009) Clinical heterogeneity of Duchenne muscular dystrophy (DMD): definition of subphenotypes and predictive criteria by long-term follow-up. PLoS ONE 4:e4347
-
(2009)
PLoS ONE
, vol.4
-
-
Desguerre, I.1
Christov, C.2
Mayer, M.3
-
12
-
-
0027314922
-
Apo-dystrophin-3: A 2.2 kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site
-
Tinsley JM, Blake DJ, Davies KE (1993) Apo-dystrophin-3: a 2.2 kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site. Hum Mol Genet 2:521-524
-
(1993)
Hum Mol Genet
, vol.2
, pp. 521-524
-
-
Tinsley, J.M.1
Blake, D.J.2
Davies, K.E.3
-
13
-
-
0027328483
-
The syntaxin family of vesicular transport receptors
-
Bennett MK, Garćia-Arrarás JE, Elferink LA et al (1993) The syntaxin family of vesicular transport receptors. Cell 74:863-873
-
(1993)
Cell
, vol.74
, pp. 863-873
-
-
Bennett, M.K.1
Garćia-Arrarás, J.E.2
Elferink, L.A.3
-
14
-
-
0029026392
-
The synaptic vesicle cycle: A cascade of protein-protein interactions
-
Südhof TC (1995) The synaptic vesicle cycle: a cascade of protein-protein interactions. Nature 375:645-653
-
(1995)
Nature
, vol.375
, pp. 645-653
-
-
Südhof, T.C.1
-
15
-
-
0032492779
-
Membrane fusion. SNAREs line up in new environment
-
Jahn R, Hanson PI (1998) Membrane fusion. SNAREs line up in new environment. Nature 393:14-15
-
(1998)
Nature
, vol.393
, pp. 14-15
-
-
Jahn, R.1
Hanson, P.I.2
-
16
-
-
0020955120
-
Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III. Its association with synaptic vesicles studied in a highly purified synaptic vesicle preparation
-
Huttner WB, Schiebler W, Greengard P, De Camilli P (1983) Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III. Its association with synaptic vesicles studied in a highly purified synaptic vesicle preparation. J Cell Biol 96:1374-1388
-
(1983)
J Cell Biol
, vol.96
, pp. 1374-1388
-
-
Huttner, W.B.1
Schiebler, W.2
Greengard, P.3
De Camilli, P.4
-
17
-
-
0027226219
-
Optimized survival of hippocampal neurons in B27-supplemented Neurobasal, a new serum-free medium combination
-
Brewer GJ, Torricelli JR, Evege EK, Price PJ (1993) Optimized survival of hippocampal neurons in B27-supplemented Neurobasal, a new serum-free medium combination. J Neurosci Res 35:567-576
-
(1993)
J Neurosci Res
, vol.35
, pp. 567-576
-
-
Brewer, G.J.1
Torricelli, J.R.2
Evege, E.K.3
Price, P.J.4
-
18
-
-
0034162942
-
Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain
-
Austin RC, Morris GE, Howard PL, Klamut HJ, Ray PN (2000) Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain. Neuromuscul Disord 10:187-193
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 187-193
-
-
Austin, R.C.1
Morris, G.E.2
Howard, P.L.3
Klamut, H.J.4
Ray, P.N.5
-
19
-
-
0037033057
-
Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion
-
Austin RC, Fox JE, Werstuck GH et al (2002) Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion. J Biol Chem 277:47106-47113
-
(2002)
J Biol Chem
, vol.277
, pp. 47106-47113
-
-
Austin, R.C.1
Fox, J.E.2
Werstuck, G.H.3
-
20
-
-
46749120689
-
Dystrophin-dependent and -independent AQP4 pools are expressed in the mouse brain
-
Nicchia GP, Rossi A, Nudel U, Svelto M, Frigeri A (2008) Dystrophin-dependent and -independent AQP4 pools are expressed in the mouse brain. Glia 56:869-876
-
(2008)
Glia
, vol.56
, pp. 869-876
-
-
Nicchia, G.P.1
Rossi, A.2
Nudel, U.3
Svelto, M.4
Frigeri, A.5
-
21
-
-
44649098901
-
Expression of multiple AQP4 pools in the plasma membrane and their association with the dystrophin complex
-
Nicchia GP, Cogotzi L, Rossi A et al (2008) Expression of multiple AQP4 pools in the plasma membrane and their association with the dystrophin complex. J Neurochem 105:2156-2165
-
(2008)
J Neurochem
, vol.105
, pp. 2156-2165
-
-
Nicchia, G.P.1
Cogotzi, L.2
Rossi, A.3
-
22
-
-
0027739691
-
Characterization and subcellular localization of the dystrophin-protein 71 (Dp71) from brain
-
Jung D, Filliol D, Metz-Boutigue MH, Rendon A (1993) Characterization and subcellular localization of the dystrophin-protein 71 (Dp71) from brain. Neuromuscul Disord 3:515-518
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 515-518
-
-
Jung, D.1
Filliol, D.2
Metz-Boutigue, M.H.3
Rendon, A.4
-
23
-
-
0028134623
-
Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy
-
Cox GA, Sunada Y, Campbell KP, Chamberlain JS (1994) Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy. Nat Genet 8:333-339
-
(1994)
Nat Genet
, vol.8
, pp. 333-339
-
-
Cox, G.A.1
Sunada, Y.2
Campbell, K.P.3
Chamberlain, J.S.4
-
24
-
-
0029810459
-
Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71
-
Greenberg DS, Schatz Y, Levy Z, Pizzo P, Yaffe D, Nudel U (1996) Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71. Hum Mol Genet 5:1299-1303
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1299-1303
-
-
Greenberg, D.S.1
Schatz, Y.2
Levy, Z.3
Pizzo, P.4
Yaffe, D.5
Nudel, U.6
-
25
-
-
77649282617
-
Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy
-
Taylor PJ, Betts GA, Maroulis S et al (2010) Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PloS ONE 5:e8803
-
(2010)
PloS ONE
, vol.5
-
-
Taylor, P.J.1
Betts, G.A.2
Maroulis, S.3
-
26
-
-
0027484533
-
Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients
-
Lenk U, Hanke R, Thiele H, Speer A (1993) Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. Hum Mol Genet 2:1877-1881
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1877-1881
-
-
Lenk, U.1
Hanke, R.2
Thiele, H.3
Speer, A.4
-
27
-
-
74249107936
-
Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral function
-
Daoud F, Candelario-Martínez A, Billard J-M et al (2009) Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral function. PloS ONE 4:e6574
-
(2009)
PloS ONE
, vol.4
-
-
Daoud, F.1
Candelario-Martínez, A.2
Billard, J.-M.3
-
28
-
-
0032952705
-
Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: Differential activity of the Dp71 promoter during development
-
Sarig R, Mezger-Lallemand V, Gitelman I et al (1999) Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development. Hum Mol Genet 8:1-10
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1-10
-
-
Sarig, R.1
Mezger-Lallemand, V.2
Gitelman, I.3
-
29
-
-
77954410184
-
HPC/syntaxin 1A gene knockout mice show abnormal behavior possibly related to a disruption in 5-HTergic systems
-
Fujiwara T, Snada M, Kofuji T, Yoshikawa T, Akagawa K (2010) HPC/syntaxin 1A gene knockout mice show abnormal behavior possibly related to a disruption in 5-HTergic systems. Eur J Neurosci 32:99-107
-
(2010)
Eur J Neurosci
, vol.32
, pp. 99-107
-
-
Fujiwara, T.1
Snada, M.2
Kofuji, T.3
Yoshikawa, T.4
Akagawa, K.5
-
30
-
-
0036580789
-
Regulation of exocytosis through Ca2+/ATP-dependent binding of autophosphorylated Ca2+/calmodulin-activated protein kinase II to syntaxin1A
-
Ohyama A, Hosaka K, Komiya Y et al (2002) Regulation of exocytosis through Ca2+/ATP-dependent binding of autophosphorylated Ca2+/calmodulin- activated protein kinase II to syntaxin1A. J Neurosci 22:3342-3351
-
(2002)
J Neurosci
, vol.22
, pp. 3342-3351
-
-
Ohyama, A.1
Hosaka, K.2
Komiya, Y.3
-
31
-
-
76849105385
-
Dystrophin Dp71 is critical for stability of the DAPs in the nucleus of PC12 cells
-
Villarreal-Silva M, Suárez-Sánchez R, Rodrígeuz- Muñoz R, Mornet D, Cisneros B (2010) Dystrophin Dp71 is critical for stability of the DAPs in the nucleus of PC12 cells. Neurochem Res 35:366-373
-
(2010)
Neurochem Res
, vol.35
, pp. 366-373
-
-
Villarreal-Silva, M.1
Suárez-Sánchez, R.2
Rodrígeuz- Muñoz, R.3
Mornet, D.4
Cisneros, B.5
-
32
-
-
80051853556
-
Knockdown of dystrophin Dp71 impairs PC12 cells cycle: Localization in the spindle and cytokinesis structures implies a role for Dp71 in cell division
-
doi:10.1371/journal.pone.0023504
-
Villarreal-Silva M, Centeno-Cruz FM, Suárez-Sánchez R, Garrido E, Cisneros B (2011) Knockdown of dystrophin Dp71 impairs PC12 cells cycle: localization in the spindle and cytokinesis structures implies a role for Dp71 in cell division. PLoS ONE 6(8):e23504. doi:10.1371/journal.pone.0023504
-
(2011)
PLoS ONE
, vol.6
, Issue.8
-
-
Villarreal-Silva, M.1
Centeno-Cruz, F.M.2
Suárez-Sánchez, R.3
Garrido, E.4
Cisneros, B.5
-
33
-
-
0031666477
-
Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?
-
Moizard MP, Billard C, Toutain A, Berret F, Marmin N, Moraine C (1998) Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Am J Med Genet 80:32-41
-
(1998)
Am J Med Genet
, vol.80
, pp. 32-41
-
-
Moizard, M.P.1
Billard, C.2
Toutain, A.3
Berret, F.4
Marmin, N.5
Moraine, C.6
-
34
-
-
0031812738
-
Spatial discrimination learning and CA1 hippocampal synaptic plasticity in mdx and mdx3cv mice lacking dystrophin gene products
-
Vaillend C, Billard JM, Claudepierre T, Rendon A, Dutar P, Ungerer A (1998) Spatial discrimination learning and CA1 hippocampal synaptic plasticity in mdx and mdx3cv mice lacking dystrophin gene products. Neuroscience 86:53-66
-
(1998)
Neuroscience
, vol.86
, pp. 53-66
-
-
Vaillend, C.1
Billard, J.M.2
Claudepierre, T.3
Rendon, A.4
Dutar, P.5
Ungerer, A.6
-
35
-
-
22244474919
-
Distinct kinetic changes in neurotransmitter release after SNARE protein cleavage
-
Sakaba T, Stein A, Jahn R, Neher E (2005) Distinct kinetic changes in neurotransmitter release after SNARE protein cleavage. Science 309:491-494
-
(2005)
Science
, vol.309
, pp. 491-494
-
-
Sakaba, T.1
Stein, A.2
Jahn, R.3
Neher, E.4
|