-
1
-
-
4544352267
-
Myoclonus: current concepts and recent advances
-
Caviness J.N., Brown P. Myoclonus: current concepts and recent advances. Lancet Neurol 2004, 3:598-607.
-
(2004)
Lancet Neurol
, vol.3
, pp. 598-607
-
-
Caviness, J.N.1
Brown, P.2
-
2
-
-
0023675531
-
Concept and classification of dystonia
-
Fahn S. Concept and classification of dystonia. Adv Neurol 1988, 50:1-8.
-
(1988)
Adv Neurol
, vol.50
, pp. 1-8
-
-
Fahn, S.1
-
3
-
-
67749110057
-
The monogenic primary dystonias
-
Muller U. The monogenic primary dystonias. Brain 2009, 132:2005-2025.
-
(2009)
Brain
, vol.132
, pp. 2005-2025
-
-
Muller, U.1
-
4
-
-
39449138688
-
The pathophysiological basis of dystonias
-
Breakefield X.O., Blood A.J., Li Y., Hallett M., Hanson P.I., Standaert D.G. The pathophysiological basis of dystonias. Nat Rev Neurosci 2008, 9:222-234.
-
(2008)
Nat Rev Neurosci
, vol.9
, pp. 222-234
-
-
Breakefield, X.O.1
Blood, A.J.2
Li, Y.3
Hallett, M.4
Hanson, P.I.5
Standaert, D.G.6
-
5
-
-
17944378309
-
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
-
Zimprich A., Grabowski M., Asmus F., Naumann M., Berg D., Bertram M., et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001, 29:66-69.
-
(2001)
Nat Genet
, vol.29
, pp. 66-69
-
-
Zimprich, A.1
Grabowski, M.2
Asmus, F.3
Naumann, M.4
Berg, D.5
Bertram, M.6
-
6
-
-
67651183916
-
Myoclonus-dystonia: an update
-
Kinugawa K., Vidailhet M., Clot F., Apartis E., Grabli D., Roze E. Myoclonus-dystonia: an update. Mov Disord 2009, 24:479-489.
-
(2009)
Mov Disord
, vol.24
, pp. 479-489
-
-
Kinugawa, K.1
Vidailhet, M.2
Clot, F.3
Apartis, E.4
Grabli, D.5
Roze, E.6
-
7
-
-
77957668775
-
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects
-
Sandona D., Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med 2009, 11:e28.
-
(2009)
Expert Rev Mol Med
, vol.11
-
-
Sandona, D.1
Betto, R.2
-
8
-
-
0031283173
-
Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D
-
Ettinger A.J., Feng G., Sanes J.R. Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. J Biol Chem 1997, 272:32534-32538.
-
(1997)
J Biol Chem
, vol.272
, pp. 32534-32538
-
-
Ettinger, A.J.1
Feng, G.2
Sanes, J.R.3
-
9
-
-
0032584667
-
Additions and corrections to epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D
-
Ettinger A.J., Feng G., Sanes J.R. Additions and corrections to epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. J Biol Chem 1998, 273:19922.
-
(1998)
J Biol Chem
, vol.273
, pp. 19922
-
-
Ettinger, A.J.1
Feng, G.2
Sanes, J.R.3
-
10
-
-
2942567731
-
Identification and characterization of epsilon-sarcoglycans in the central nervous system
-
Nishiyama A., Endo T., Takeda S., Imamura M. Identification and characterization of epsilon-sarcoglycans in the central nervous system. Brain Res Mol Brain Res 2004, 125:1-12.
-
(2004)
Brain Res Mol Brain Res
, vol.125
, pp. 1-12
-
-
Nishiyama, A.1
Endo, T.2
Takeda, S.3
Imamura, M.4
-
11
-
-
24044528592
-
Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain
-
Yokoi F., Dang M.T., Mitsui S., Li Y. Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain. FEBS Lett 2005, 579:4822-4828.
-
(2005)
FEBS Lett
, vol.579
, pp. 4822-4828
-
-
Yokoi, F.1
Dang, M.T.2
Mitsui, S.3
Li, Y.4
-
12
-
-
0032559065
-
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene
-
McNally E.M., Ly C.T., Kunkel L.M. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS Lett 1998, 422:27-32.
-
(1998)
FEBS Lett
, vol.422
, pp. 27-32
-
-
McNally, E.M.1
Ly, C.T.2
Kunkel, L.M.3
-
13
-
-
79952741163
-
SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?
-
Ritz K., van Schaik B.D., Jakobs M.E., van Kampen A.H., Aronica E., Tijssen M.A., et al. SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?. Eur J Hum Genet 2011, 19:438-444.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 438-444
-
-
Ritz, K.1
van Schaik, B.D.2
Jakobs, M.E.3
van Kampen, A.H.4
Aronica, E.5
Tijssen, M.A.6
-
14
-
-
0242391849
-
Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan
-
Xiao J., LeDoux M.S. Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan. Brain Res Mol Brain Res 2003, 119:132-143.
-
(2003)
Brain Res Mol Brain Res
, vol.119
, pp. 132-143
-
-
Xiao, J.1
LeDoux, M.S.2
-
15
-
-
0034002072
-
Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines
-
Piras G., El Kharroubi A., Kozlov S., Escalante-Alcalde D., Hernandez L., Copeland N.G., et al. Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines. Mol Cell Biol 2000, 20:3308-3315.
-
(2000)
Mol Cell Biol
, vol.20
, pp. 3308-3315
-
-
Piras, G.1
El Kharroubi, A.2
Kozlov, S.3
Escalante-Alcalde, D.4
Hernandez, L.5
Copeland, N.G.6
-
16
-
-
0037301222
-
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
-
Grabowski M., Zimprich A., Lorenz-Depiereux B., Kalscheuer V., Asmus F., Gasser T., et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 2003, 11:138-144.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 138-144
-
-
Grabowski, M.1
Zimprich, A.2
Lorenz-Depiereux, B.3
Kalscheuer, V.4
Asmus, F.5
Gasser, T.6
-
17
-
-
81255209217
-
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex
-
Lancioni A., Luisa Rotundo I., Monique Kobayashi Y., D'Orsi L., Aurino S., Nigro G., et al. Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. Hum Mol Genet 2011.
-
(2011)
Hum Mol Genet
-
-
Lancioni, A.1
Luisa Rotundo, I.2
Monique Kobayashi, Y.3
D'Orsi, L.4
Aurino, S.5
Nigro, G.6
-
18
-
-
41349090135
-
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations
-
Roze E., Apartis E., Clot F., Dorison N., Thobois S., Guyant-Marechal L., et al. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology 2008, 70:1010-1016.
-
(2008)
Neurology
, vol.70
, pp. 1010-1016
-
-
Roze, E.1
Apartis, E.2
Clot, F.3
Dorison, N.4
Thobois, S.5
Guyant-Marechal, L.6
-
19
-
-
11144358159
-
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations
-
Hedrich K., Meyer E.M., Schule B., Kock N., de Carvalho Aguiar P., Wiegers K., et al. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology 2004, 62:1229-1231.
-
(2004)
Neurology
, vol.62
, pp. 1229-1231
-
-
Hedrich, K.1
Meyer, E.M.2
Schule, B.3
Kock, N.4
de Carvalho Aguiar, P.5
Wiegers, K.6
-
20
-
-
77958053772
-
Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce
-
Yokoi F., Yang G., Li J., Deandrade M.P., Zhou T., Li Y. Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce. J Biochem 2010, 148:459-466.
-
(2010)
J Biochem
, vol.148
, pp. 459-466
-
-
Yokoi, F.1
Yang, G.2
Li, J.3
Deandrade, M.P.4
Zhou, T.5
Li, Y.6
-
21
-
-
33748935502
-
Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice
-
Yokoi F., Dang M.T., Li J., Li Y. Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice. J Biochem 2006, 140:141-146.
-
(2006)
J Biochem
, vol.140
, pp. 141-146
-
-
Yokoi, F.1
Dang, M.T.2
Li, J.3
Li, Y.4
-
22
-
-
27744567561
-
Generation and characterization of Dyt1 deltaGAG knock-in mouse as a model for early-onset dystonia
-
Dang M.T., Yokoi F., McNaught K.S., Jengelley T.A., Jackson T., Li J., et al. Generation and characterization of Dyt1 deltaGAG knock-in mouse as a model for early-onset dystonia. Exp Neurol 2005, 196:452-463.
-
(2005)
Exp Neurol
, vol.196
, pp. 452-463
-
-
Dang, M.T.1
Yokoi, F.2
McNaught, K.S.3
Jengelley, T.A.4
Jackson, T.5
Li, J.6
-
23
-
-
3843067672
-
Microstructural white matter changes in carriers of the DYT1 gene mutation
-
Carbon M., Kingsley P.B., Su S., Smith G.S., Spetsieris P., Bressman S., et al. Microstructural white matter changes in carriers of the DYT1 gene mutation. Ann Neurol 2004, 56:283-286.
-
(2004)
Ann Neurol
, vol.56
, pp. 283-286
-
-
Carbon, M.1
Kingsley, P.B.2
Su, S.3
Smith, G.S.4
Spetsieris, P.5
Bressman, S.6
-
24
-
-
70349569481
-
Increased c-fos expression in the central nucleus of the amygdala and enhancement of cued fear memory in Dyt1 DeltaGAG knock-in mice
-
Yokoi F., Dang M.T., Miller C.A., Marshall A.G., Campbell S.L., Sweatt J.D., et al. Increased c-fos expression in the central nucleus of the amygdala and enhancement of cued fear memory in Dyt1 DeltaGAG knock-in mice. Neurosci Res 2009, 65:228-235.
-
(2009)
Neurosci Res
, vol.65
, pp. 228-235
-
-
Yokoi, F.1
Dang, M.T.2
Miller, C.A.3
Marshall, A.G.4
Campbell, S.L.5
Sweatt, J.D.6
-
25
-
-
79953173585
-
Altered dendritic morphology of Purkinje cells in Dyt1 DeltaGAG knock-in and purkinje cell-specific Dyt1 conditional knockout mice
-
Zhang L., Yokoi F., Jin Y.H., Deandrade M.P., Hashimoto K., Standaert D.G., et al. Altered dendritic morphology of Purkinje cells in Dyt1 DeltaGAG knock-in and purkinje cell-specific Dyt1 conditional knockout mice. PLoS One 2011, 6:e18357.
-
(2011)
PLoS One
, vol.6
-
-
Zhang, L.1
Yokoi, F.2
Jin, Y.H.3
Deandrade, M.P.4
Hashimoto, K.5
Standaert, D.G.6
-
26
-
-
2442637778
-
TorsinA in the nuclear envelope
-
Naismith T.V., Heuser J.E., Breakefield X.O., Hanson P.I. TorsinA in the nuclear envelope. Proc Natl Acad Sci U S A 2004, 101:7612-7617.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 7612-7617
-
-
Naismith, T.V.1
Heuser, J.E.2
Breakefield, X.O.3
Hanson, P.I.4
-
27
-
-
1642290757
-
Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
-
Gonzalez-Alegre P., Paulson H.L. Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci 2004, 24:2593-2601.
-
(2004)
J Neurosci
, vol.24
, pp. 2593-2601
-
-
Gonzalez-Alegre, P.1
Paulson, H.L.2
-
28
-
-
29144460260
-
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope
-
Goodchild R.E., Kim C.E., Dauer W.T. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 2005, 48:923-932.
-
(2005)
Neuron
, vol.48
, pp. 923-932
-
-
Goodchild, R.E.1
Kim, C.E.2
Dauer, W.T.3
-
29
-
-
77953090863
-
A molecular mechanism underlying the neural-specific defect in torsinA mutant mice
-
Kim C.E., Perez A., Perkins G., Ellisman M.H., Dauer W.T. A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc Natl Acad Sci U S A 2010, 107:9861-9866.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 9861-9866
-
-
Kim, C.E.1
Perez, A.2
Perkins, G.3
Ellisman, M.H.4
Dauer, W.T.5
-
30
-
-
34447641630
-
Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
-
Grundmann K., Reischmann B., Vanhoutte G., Hubener J., Teismann P., Hauser T.K., et al. Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol Dis 2007, 27:190-206.
-
(2007)
Neurobiol Dis
, vol.27
, pp. 190-206
-
-
Grundmann, K.1
Reischmann, B.2
Vanhoutte, G.3
Hubener, J.4
Teismann, P.5
Hauser, T.K.6
-
31
-
-
80052634773
-
Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout mice
-
Yokoi F., Dang M.T., Li J., Standaert D.G., Li Y. Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout mice. PLoS One 2011, 6:e24539.
-
(2011)
PLoS One
, vol.6
-
-
Yokoi, F.1
Dang, M.T.2
Li, J.3
Standaert, D.G.4
Li, Y.5
-
32
-
-
38849083925
-
Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice
-
Yokoi F., Dang M.T., Mitsui S., Li J., Li Y. Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice. J Biochem 2008, 143:39-47.
-
(2008)
J Biochem
, vol.143
, pp. 39-47
-
-
Yokoi, F.1
Dang, M.T.2
Mitsui, S.3
Li, J.4
Li, Y.5
-
33
-
-
0027251669
-
Cerebellectomy eliminates the motor syndrome of the genetically dystonic rat
-
LeDoux M.S., Lorden J.F., Ervin J.M. Cerebellectomy eliminates the motor syndrome of the genetically dystonic rat. Exp Neurol 1993, 120:302-310.
-
(1993)
Exp Neurol
, vol.120
, pp. 302-310
-
-
LeDoux, M.S.1
Lorden, J.F.2
Ervin, J.M.3
-
34
-
-
0028882891
-
Selective elimination of cerebellar output in the genetically dystonic rat
-
LeDoux M.S., Lorden J.F., Meinzen-Derr J. Selective elimination of cerebellar output in the genetically dystonic rat. Brain Res 1995, 697:91-103.
-
(1995)
Brain Res
, vol.697
, pp. 91-103
-
-
LeDoux, M.S.1
Lorden, J.F.2
Meinzen-Derr, J.3
-
35
-
-
0032401852
-
Improvement in motor performance of Weaver mutant mice following lesions of the cerebellum
-
Grusser C., Grusser-Cornehls U. Improvement in motor performance of Weaver mutant mice following lesions of the cerebellum. Behav Brain Res 1998, 97:189-194.
-
(1998)
Behav Brain Res
, vol.97
, pp. 189-194
-
-
Grusser, C.1
Grusser-Cornehls, U.2
-
36
-
-
0032710832
-
Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background
-
Campbell D.B., North J.B., Hess E.J. Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background. Exp Neurol 1999, 160:268-278.
-
(1999)
Exp Neurol
, vol.160
, pp. 268-278
-
-
Campbell, D.B.1
North, J.B.2
Hess, E.J.3
-
37
-
-
11244345193
-
Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain
-
Chan P., Gonzalez-Maeso J., Ruf F., Bishop D.F., Hof P.R., Sealfon S.C. Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain. J Comp Neurol 2005, 482:50-73.
-
(2005)
J Comp Neurol
, vol.482
, pp. 50-73
-
-
Chan, P.1
Gonzalez-Maeso, J.2
Ruf, F.3
Bishop, D.F.4
Hof, P.R.5
Sealfon, S.C.6
-
38
-
-
0038123157
-
Impaired sequence learning in carriers of the DYT1 dystonia mutation
-
Ghilardi M.F., Carbon M., Silvestri G., Dhawan V., Tagliati M., Bressman S., et al. Impaired sequence learning in carriers of the DYT1 dystonia mutation. Ann Neurol 2003, 54:102-109.
-
(2003)
Ann Neurol
, vol.54
, pp. 102-109
-
-
Ghilardi, M.F.1
Carbon, M.2
Silvestri, G.3
Dhawan, V.4
Tagliati, M.5
Bressman, S.6
-
39
-
-
20044374519
-
Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation
-
Sharma N., Baxter M.G., Petravicz J., Bragg D.C., Schienda A., Standaert D.G., et al. Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J Neurosci 2005, 25:5351-5355.
-
(2005)
J Neurosci
, vol.25
, pp. 5351-5355
-
-
Sharma, N.1
Baxter, M.G.2
Petravicz, J.3
Bragg, D.C.4
Schienda, A.5
Standaert, D.G.6
-
40
-
-
0037159102
-
Phenotypic features of myoclonus-dystonia in three kindreds
-
Doheny D.O., Brin M.F., Morrison C.E., Smith C.J., Walker R.H., Abbasi S., et al. Phenotypic features of myoclonus-dystonia in three kindreds. Neurology 2002, 59:1187-1196.
-
(2002)
Neurology
, vol.59
, pp. 1187-1196
-
-
Doheny, D.O.1
Brin, M.F.2
Morrison, C.E.3
Smith, C.J.4
Walker, R.H.5
Abbasi, S.6
-
41
-
-
41949095065
-
Molecular mechanisms governing competitive synaptic wiring in cerebellar Purkinje cells
-
Watanabe M. Molecular mechanisms governing competitive synaptic wiring in cerebellar Purkinje cells. Tohoku J Exp Med 2008, 214:175-190.
-
(2008)
Tohoku J Exp Med
, vol.214
, pp. 175-190
-
-
Watanabe, M.1
-
42
-
-
0034487368
-
Widespread recombinase expression using FLPeR (flipper) mice
-
Farley F.W., Soriano P., Steffen L.S., Dymecki S.M. Widespread recombinase expression using FLPeR (flipper) mice. Genesis 2000, 28:106-110.
-
(2000)
Genesis
, vol.28
, pp. 106-110
-
-
Farley, F.W.1
Soriano, P.2
Steffen, L.S.3
Dymecki, S.M.4
-
43
-
-
0024041732
-
Site-specific DNA recombination in mammalian cells by the cre recombinase of bacteriophage P1
-
Sauer B., Henderson N. Site-specific DNA recombination in mammalian cells by the cre recombinase of bacteriophage P1. Proc Natl Acad Sci U S A 1988, 85:5166-5170.
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, pp. 5166-5170
-
-
Sauer, B.1
Henderson, N.2
-
44
-
-
0029566108
-
A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells
-
Schwenk F., Baron U., Rajewsky K. A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells. Nucleic Acids Res 1995, 23:5080-5081.
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 5080-5081
-
-
Schwenk, F.1
Baron, U.2
Rajewsky, K.3
-
45
-
-
0034489127
-
Cre recombinase expression in cerebellar Purkinje cells
-
Barski J.J., Dethleffsen K., Meyer M. Cre recombinase expression in cerebellar Purkinje cells. Genesis 2000, 28:93-98.
-
(2000)
Genesis
, vol.28
, pp. 93-98
-
-
Barski, J.J.1
Dethleffsen, K.2
Meyer, M.3
-
46
-
-
2942729671
-
Increased seizure susceptibility and cortical malformation in beta-catenin mutant mice
-
Campos V.E., Du M., Li Y. Increased seizure susceptibility and cortical malformation in beta-catenin mutant mice. Biochem Biophys Res Commun 2004, 320:606-614.
-
(2004)
Biochem Biophys Res Commun
, vol.320
, pp. 606-614
-
-
Campos, V.E.1
Du, M.2
Li, Y.3
-
47
-
-
0036837148
-
Subacute systemic 3-nitropropionic acid intoxication induces a distinct motor disorder in adult C57Bl/6 mice: behavioural and histopathological characterisation
-
Fernagut P.O., Diguet E., Stefanova N., Biran M., Wenning G.K., Canioni P., et al. Subacute systemic 3-nitropropionic acid intoxication induces a distinct motor disorder in adult C57Bl/6 mice: behavioural and histopathological characterisation. Neuroscience 2002, 114:1005-1017.
-
(2002)
Neuroscience
, vol.114
, pp. 1005-1017
-
-
Fernagut, P.O.1
Diguet, E.2
Stefanova, N.3
Biran, M.4
Wenning, G.K.5
Canioni, P.6
-
48
-
-
0037165919
-
Reduced anxiety- and depression-like behaviors in Emx1 homozygous mutant mice
-
Cao B.J., Li Y. Reduced anxiety- and depression-like behaviors in Emx1 homozygous mutant mice. Brain Res 2002, 937:32-40.
-
(2002)
Brain Res
, vol.937
, pp. 32-40
-
-
Cao, B.J.1
Li, Y.2
-
49
-
-
33751019482
-
Motor deficits and hyperactivity in Dyt1 knockdown mice
-
Dang M.T., Yokoi F., Pence M.A., Li Y. Motor deficits and hyperactivity in Dyt1 knockdown mice. Neurosci Res 2006, 56:470-474.
-
(2006)
Neurosci Res
, vol.56
, pp. 470-474
-
-
Dang, M.T.1
Yokoi, F.2
Pence, M.A.3
Li, Y.4
-
50
-
-
35148829836
-
Motor coordination and balance in rodents
-
John Wiley & Sons, Inc. 12.1-8.4, J. Crawley (Ed.)
-
Carter R.J., Morton A.J., Dunnett S.B. Motor coordination and balance in rodents. Current protocols in neuroscience 2001, John Wiley & Sons, Inc., p. 8.12.1-8.4. J. Crawley (Ed.).
-
(2001)
Current protocols in neuroscience
, pp. 8
-
-
Carter, R.J.1
Morton, A.J.2
Dunnett, S.B.3
-
51
-
-
0033786789
-
Nuclear envelope proteins and associated diseases
-
Nagano A., Arahata K. Nuclear envelope proteins and associated diseases. Curr Opin Neurol 2000, 13:533-539.
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 533-539
-
-
Nagano, A.1
Arahata, K.2
-
52
-
-
0029069644
-
Hemidystonia consequent upon ipsilateral vertebral artery occlusion and cerebellar infarction
-
Rumbach L., Barth P., Costaz A., Mas J. Hemidystonia consequent upon ipsilateral vertebral artery occlusion and cerebellar infarction. Mov Disord 1995, 10:522-525.
-
(1995)
Mov Disord
, vol.10
, pp. 522-525
-
-
Rumbach, L.1
Barth, P.2
Costaz, A.3
Mas, J.4
-
53
-
-
33845408785
-
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia
-
Le Ber I., Clot F., Vercueil L., Camuzat A., Viemont M., Benamar N., et al. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology 2006, 67:1769-1773.
-
(2006)
Neurology
, vol.67
, pp. 1769-1773
-
-
Le Ber, I.1
Clot, F.2
Vercueil, L.3
Camuzat, A.4
Viemont, M.5
Benamar, N.6
-
54
-
-
0036758627
-
Abnormal cerebellar signaling induces dystonia in mice
-
Pizoli C.E., Jinnah H.A., Billingsley M.L., Hess E.J. Abnormal cerebellar signaling induces dystonia in mice. J Neurosci 2002, 22:7825-7833.
-
(2002)
J Neurosci
, vol.22
, pp. 7825-7833
-
-
Pizoli, C.E.1
Jinnah, H.A.2
Billingsley, M.L.3
Hess, E.J.4
-
55
-
-
34547625206
-
Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp
-
Delmaire C., Vidailhet M., Elbaz A., Bourdain F., Bleton J.P., Sangla S., et al. Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp. Neurology 2007, 69:376-380.
-
(2007)
Neurology
, vol.69
, pp. 376-380
-
-
Delmaire, C.1
Vidailhet, M.2
Elbaz, A.3
Bourdain, F.4
Bleton, J.P.5
Sangla, S.6
-
56
-
-
0242411121
-
Motor circuit gray matter changes in idiopathic cervical dystonia
-
Draganski B., Thun-Hohenstein C., Bogdahn U., Winkler J., May A. Motor circuit gray matter changes in idiopathic cervical dystonia. Neurology 2003, 61:1228-1231.
-
(2003)
Neurology
, vol.61
, pp. 1228-1231
-
-
Draganski, B.1
Thun-Hohenstein, C.2
Bogdahn, U.3
Winkler, J.4
May, A.5
-
57
-
-
34447561555
-
Morphometric changes of sensorimotor structures in focal dystonia
-
Obermann M., Yaldizli O., De Greiff A., Lachenmayer M.L., Buhl A.R., Tumczak F., et al. Morphometric changes of sensorimotor structures in focal dystonia. Mov Disord 2007, 22:1117-1123.
-
(2007)
Mov Disord
, vol.22
, pp. 1117-1123
-
-
Obermann, M.1
Yaldizli, O.2
De Greiff, A.3
Lachenmayer, M.L.4
Buhl, A.R.5
Tumczak, F.6
-
58
-
-
37549018418
-
Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study
-
Carbon M., Ghilardi M.F., Argyelan M., Dhawan V., Bressman S.B., Eidelberg D. Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study. Brain 2008, 131:146-154.
-
(2008)
Brain
, vol.131
, pp. 146-154
-
-
Carbon, M.1
Ghilardi, M.F.2
Argyelan, M.3
Dhawan, V.4
Bressman, S.B.5
Eidelberg, D.6
-
59
-
-
79952009635
-
The neural substrates of rapid-onset dystonia-parkinsonism
-
Calderon D.P., Fremont R., Kraenzlin F., Khodakhah K. The neural substrates of rapid-onset dystonia-parkinsonism. Nat Neurosci 2011, 14:357-365.
-
(2011)
Nat Neurosci
, vol.14
, pp. 357-365
-
-
Calderon, D.P.1
Fremont, R.2
Kraenzlin, F.3
Khodakhah, K.4
-
60
-
-
78149498710
-
Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism
-
DeAndrade M.P., Yokoi F., van Groen T., Lingrel J.B., Li Y. Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism. Behav Brain Res 2011, 216:659-665.
-
(2011)
Behav Brain Res
, vol.216
, pp. 659-665
-
-
DeAndrade, M.P.1
Yokoi, F.2
van Groen, T.3
Lingrel, J.B.4
Li, Y.5
-
61
-
-
0034213873
-
Emery-Dreifuss muscular dystrophy - a 40 year retrospective
-
Emery A.E. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord 2000, 10:228-232.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 228-232
-
-
Emery, A.E.1
-
62
-
-
56349160730
-
TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton
-
Nery F.C., Zeng J., Niland B.P., Hewett J., Farley J., Irimia D., et al. TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. J Cell Sci 2008, 121:3476-3486.
-
(2008)
J Cell Sci
, vol.121
, pp. 3476-3486
-
-
Nery, F.C.1
Zeng, J.2
Niland, B.P.3
Hewett, J.4
Farley, J.5
Irimia, D.6
-
63
-
-
15444374750
-
The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
-
Goodchild R.E., Dauer W.T. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J Cell Biol 2005, 168:855-862.
-
(2005)
J Cell Biol
, vol.168
, pp. 855-862
-
-
Goodchild, R.E.1
Dauer, W.T.2
-
64
-
-
27644450243
-
The cerebellum communicates with the basal ganglia
-
Hoshi E., Tremblay L., Féger J., Carras P.L., Strick P.L. The cerebellum communicates with the basal ganglia. Nat Neurosci 2005, 8:1491-1493.
-
(2005)
Nat Neurosci
, vol.8
, pp. 1491-1493
-
-
Hoshi, E.1
Tremblay, L.2
Féger, J.3
Carras, P.L.4
Strick, P.L.5
-
65
-
-
33744945506
-
Cerebellar circuitry as a neuronal machine
-
Ito M. Cerebellar circuitry as a neuronal machine. Prog Neurobiol 2006, 78:272-303.
-
(2006)
Prog Neurobiol
, vol.78
, pp. 272-303
-
-
Ito, M.1
-
66
-
-
67449106356
-
Pathophysiology and treatment of myoclonus
-
vii
-
Caviness J.N. Pathophysiology and treatment of myoclonus. Neurol Clin 2009, 27:757-777. vii.
-
(2009)
Neurol Clin
, vol.27
, pp. 757-777
-
-
Caviness, J.N.1
-
67
-
-
80052614852
-
Impaired saccadic adaptation in DYT11 dystonia
-
Hubsch C., Vidailhet M., Rivaud-Pechoux S., Pouget P., Brochard V., Degos B., et al. Impaired saccadic adaptation in DYT11 dystonia. J Neurol Neurosurg Psychiatry 2011, 82:1103-1106.
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, pp. 1103-1106
-
-
Hubsch, C.1
Vidailhet, M.2
Rivaud-Pechoux, S.3
Pouget, P.4
Brochard, V.5
Degos, B.6
-
68
-
-
79958037336
-
The role of the cerebellum in saccadic adaptation as a window into neural mechanisms of motor learning
-
Prsa M., Thier P. The role of the cerebellum in saccadic adaptation as a window into neural mechanisms of motor learning. Eur J Neurosci 2011, 33:2114-2128.
-
(2011)
Eur J Neurosci
, vol.33
, pp. 2114-2128
-
-
Prsa, M.1
Thier, P.2
|