-
1
-
-
0037072281
-
Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study
-
Augood S.J., Hollingsworth Z., Albers D.S., Yang L., Leung J.C., Muller B., Klein C., Breakefield X.O., and Standaert D.G. Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study. Neurology 3 (2002) 445-448
-
(2002)
Neurology
, vol.3
, pp. 445-448
-
-
Augood, S.J.1
Hollingsworth, Z.2
Albers, D.S.3
Yang, L.4
Leung, J.C.5
Muller, B.6
Klein, C.7
Breakefield, X.O.8
Standaert, D.G.9
-
2
-
-
0142026884
-
Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain
-
Augood S.J., Keller-McGandy C.E., Siriani A., Hewett J., Ramesh V., Sapp E., DiFiglia M., Breakefield X.O., and Standaert D.G. Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain. Brain Res. 1-2 (2003) 12-21
-
(2003)
Brain Res.
, vol.1-2
, pp. 12-21
-
-
Augood, S.J.1
Keller-McGandy, C.E.2
Siriani, A.3
Hewett, J.4
Ramesh, V.5
Sapp, E.6
DiFiglia, M.7
Breakefield, X.O.8
Standaert, D.G.9
-
3
-
-
0141601960
-
Combined intrastriatal dopamine D1 and serotonin 5-HT2 receptor stimulation reveals a mechanism for hyperlocomotion in 6-hydroxydopamine-lesioned rats
-
Bishop C., and Walker P.D. Combined intrastriatal dopamine D1 and serotonin 5-HT2 receptor stimulation reveals a mechanism for hyperlocomotion in 6-hydroxydopamine-lesioned rats. Neuroscience 3 (2003) 649-657
-
(2003)
Neuroscience
, vol.3
, pp. 649-657
-
-
Bishop, C.1
Walker, P.D.2
-
4
-
-
33746973249
-
Plasticity within striatal direct pathway neurons after neonatal dopamine depletion is mediated through a novel functional coupling of serotonin 5-HT2 receptors to the ERK 1/2 map kinase pathway
-
Brown P., and Gerfen C.R. Plasticity within striatal direct pathway neurons after neonatal dopamine depletion is mediated through a novel functional coupling of serotonin 5-HT2 receptors to the ERK 1/2 map kinase pathway. J. Comp. Neurol. 3 (2006) 415-430
-
(2006)
J. Comp. Neurol.
, vol.3
, pp. 415-430
-
-
Brown, P.1
Gerfen, C.R.2
-
5
-
-
0033560924
-
Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation
-
Carter R.J., Lione L.A., Humby T., Mangiarini L., Mahal A., Bates G.P., Dunnett S.B., and Morton A.J. Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation. J. Neurosci. 8 (1999) 3248-3257
-
(1999)
J. Neurosci.
, vol.8
, pp. 3248-3257
-
-
Carter, R.J.1
Lione, L.A.2
Humby, T.3
Mangiarini, L.4
Mahal, A.5
Bates, G.P.6
Dunnett, S.B.7
Morton, A.J.8
-
6
-
-
18244406025
-
Torsin A haplotype predisposes to idiopathic dystonia
-
Clarimon J., Asgeirsson H., Singleton A., Jakobsson F., Hjaltason H., Hardy J., and Sveinbjornsdottir S. Torsin A haplotype predisposes to idiopathic dystonia. Ann. Neurol. 5 (2005) 765-767
-
(2005)
Ann. Neurol.
, vol.5
, pp. 765-767
-
-
Clarimon, J.1
Asgeirsson, H.2
Singleton, A.3
Jakobsson, F.4
Hjaltason, H.5
Hardy, J.6
Sveinbjornsdottir, S.7
-
7
-
-
27444437202
-
Diffusion tensor imaging in primary cervical dystonia
-
Colosimo C., Pantano P., Calistri V., Totaro P., Fabbrini G., and Berardelli A. Diffusion tensor imaging in primary cervical dystonia. J. Neurol. Neurosurg. Psychiatry 11 (2005) 1591-1593
-
(2005)
J. Neurol. Neurosurg. Psychiatry
, vol.11
, pp. 1591-1593
-
-
Colosimo, C.1
Pantano, P.2
Calistri, V.3
Totaro, P.4
Fabbrini, G.5
Berardelli, A.6
-
8
-
-
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., and Li Y. Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp. Neurol. 2 (2005) 452-463
-
(2005)
Exp. Neurol.
, vol.2
, pp. 452-463
-
-
Dang, M.T.1
Yokoi, F.2
McNaught, K.S.3
Jengelley, T.A.4
Jackson, T.5
Li, J.6
Li, Y.7
-
9
-
-
0034948210
-
Evaluation of nigrostriatal dopaminergic function in adult +/+ and +/- BDNF mutant mice
-
Dluzen D.E., Gao X., Story G.M., Anderson L.I., Kucera J., and Walro J.M. Evaluation of nigrostriatal dopaminergic function in adult +/+ and +/- BDNF mutant mice. Exp. Neurol. 1 (2001) 121-128
-
(2001)
Exp. Neurol.
, vol.1
, pp. 121-128
-
-
Dluzen, D.E.1
Gao, X.2
Story, G.M.3
Anderson, L.I.4
Kucera, J.5
Walro, J.M.6
-
10
-
-
0031716770
-
Functional brain networks in DYT1 dystonia
-
Eidelberg D., Moeller J.R., Antonini A., Kazumata K., Nakamura T., Dhawan V., Spetsieris P., DeLeon D., Bressman S.B., and Fahn S. Functional brain networks in DYT1 dystonia. Ann. Neurol. 3 (1998) 303-312
-
(1998)
Ann. Neurol.
, vol.3
, pp. 303-312
-
-
Eidelberg, D.1
Moeller, J.R.2
Antonini, A.3
Kazumata, K.4
Nakamura, T.5
Dhawan, V.6
Spetsieris, P.7
DeLeon, D.8
Bressman, S.B.9
Fahn, S.10
-
11
-
-
0023675531
-
Concept and classification of dystonia
-
Fahn S. Concept and classification of dystonia. Adv. Neurol. (1988) 1-8
-
(1988)
Adv. Neurol.
, pp. 1-8
-
-
Fahn, S.1
-
12
-
-
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., Bioulac B., and Tison F. Subacute systemic 3-nitropropionic acid intoxication induces a distinct motor disorder in adult C57Bl/6 mice: behavioural and histopathological characterisation. Neuroscience 4 (2002) 1005-1017
-
(2002)
Neuroscience
, vol.4
, pp. 1005-1017
-
-
Fernagut, P.O.1
Diguet, E.2
Stefanova, N.3
Biran, M.4
Wenning, G.K.5
Canioni, P.6
Bioulac, B.7
Tison, F.8
-
13
-
-
0344407056
-
Motor behaviour deficits and their histopathological and functional correlates in the nigrostriatal system of dopamine transporter knockout mice
-
Fernagut P.O., Chalon S., Diguet E., Guilloteau D., Tison F., and Jaber M. Motor behaviour deficits and their histopathological and functional correlates in the nigrostriatal system of dopamine transporter knockout mice. Neuroscience 4 (2003) 1123-1130
-
(2003)
Neuroscience
, vol.4
, pp. 1123-1130
-
-
Fernagut, P.O.1
Chalon, S.2
Diguet, E.3
Guilloteau, D.4
Tison, F.5
Jaber, M.6
-
14
-
-
2442449012
-
TorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell line
-
Ferrari-Toninelli G., Paccioretti S., Francisconi S., Uberti D., and Memo M. TorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell line. Brain Res. 1-2 (2004) 75-81
-
(2004)
Brain Res.
, vol.1-2
, pp. 75-81
-
-
Ferrari-Toninelli, G.1
Paccioretti, S.2
Francisconi, S.3
Uberti, D.4
Memo, M.5
-
15
-
-
0037295348
-
Pedunculopontine tegmental stimulation evokes striatal dopamine efflux by activation of acetylcholine and glutamate receptors in the midbrain and pons of the rat
-
Forster G.L., and Blaha C.D. Pedunculopontine tegmental stimulation evokes striatal dopamine efflux by activation of acetylcholine and glutamate receptors in the midbrain and pons of the rat. Eur. J. Neurosci. 4 (2003) 751-762
-
(2003)
Eur. J. Neurosci.
, vol.4
, pp. 751-762
-
-
Forster, G.L.1
Blaha, C.D.2
-
16
-
-
0034646320
-
Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation
-
Furukawa Y., Hornykiewicz O., Fahn S., and Kish S.J. Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation. Neurology 5 (2000) 1193-1195
-
(2000)
Neurology
, vol.5
, pp. 1193-1195
-
-
Furukawa, Y.1
Hornykiewicz, O.2
Fahn, S.3
Kish, S.J.4
-
17
-
-
0033555898
-
Role of serotonin in the paradoxical calming effect of psychostimulants on hyperactivity
-
Gainetdinov R.R., Wetsel W.C., Jones S.R., Levin E.D., Jaber M., and Caron M.G. Role of serotonin in the paradoxical calming effect of psychostimulants on hyperactivity. Science 5400 (1999) 397-401
-
(1999)
Science
, vol.5400
, pp. 397-401
-
-
Gainetdinov, R.R.1
Wetsel, W.C.2
Jones, S.R.3
Levin, E.D.4
Jaber, M.5
Caron, M.G.6
-
18
-
-
0025572196
-
D1 and D2 dopamine receptor-regulated gene expression of striatonigral and striatopallidal neurons
-
Gerfen C.R., Engber T.M., Mahan L.C., Susel Z., Chase T.N., Monsma Jr. F.J., and Sibley D.R. D1 and D2 dopamine receptor-regulated gene expression of striatonigral and striatopallidal neurons. Science 4986 (1990) 1429-1432
-
(1990)
Science
, vol.4986
, pp. 1429-1432
-
-
Gerfen, C.R.1
Engber, T.M.2
Mahan, L.C.3
Susel, Z.4
Chase, T.N.5
Monsma Jr., F.J.6
Sibley, D.R.7
-
19
-
-
0038123157
-
Impaired sequence learning in carriers of the DYT1 dystonia mutation
-
Ghilardi M.F., Carbon M., Silvestri G., Dhawan V., Tagliati M., Bressman S., Ghez C., and Eidelberg D. Impaired sequence learning in carriers of the DYT1 dystonia mutation. Ann. Neurol. 1 (2003) 102-109
-
(2003)
Ann. Neurol.
, vol.1
, pp. 102-109
-
-
Ghilardi, M.F.1
Carbon, M.2
Silvestri, G.3
Dhawan, V.4
Tagliati, M.5
Bressman, S.6
Ghez, C.7
Eidelberg, D.8
-
20
-
-
1642290757
-
Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
-
Gonzalez-Alegre P., and Paulson H.L. Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J. Neurosci. 11 (2004) 2593-2601
-
(2004)
J. Neurosci.
, vol.11
, pp. 2593-2601
-
-
Gonzalez-Alegre, P.1
Paulson, H.L.2
-
21
-
-
1642433201
-
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation
-
Goodchild R.E., and Dauer W.T. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc. Natl. Acad. Sci. U. S. A. 3 (2004) 847-852
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.3
, pp. 847-852
-
-
Goodchild, R.E.1
Dauer, W.T.2
-
22
-
-
15444374750
-
The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
-
Goodchild R.E., and Dauer W.T. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J. Cell Biol. 6 (2005) 855-862
-
(2005)
J. Cell Biol.
, vol.6
, pp. 855-862
-
-
Goodchild, R.E.1
Dauer, W.T.2
-
23
-
-
29144460260
-
Loss of the dystonia-associated protein TorsinA selectively disrupts the neuronal nuclear envelope
-
Goodchild R.E., Kim C.E., and Dauer W.T. Loss of the dystonia-associated protein TorsinA selectively disrupts the neuronal nuclear envelope. Neuron 6 (2005) 923-932
-
(2005)
Neuron
, vol.6
, pp. 923-932
-
-
Goodchild, R.E.1
Kim, C.E.2
Dauer, W.T.3
-
25
-
-
0034702033
-
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
-
Hewett J., Gonzalez A., Slater D., Ziefer P., Li S., Bergeron D., Jacoby D.J., Ozelius L.J., Ramesh V., and Breakefield X.O. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum. Mol. Genet. 9 (2000) 1403-1413
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1403-1413
-
-
Hewett, J.1
Gonzalez, A.2
Slater, D.3
Ziefer, P.4
Li, S.5
Bergeron, D.6
Jacoby, D.J.7
Ozelius, L.J.8
Ramesh, V.9
Breakefield, X.O.10
-
26
-
-
0037445915
-
TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress
-
Hewett J., Ziefer P., Bergeron D., Naismith T., Boston H., Slater D., Wilbur J., Schuback D., Kamm C., Smith N., Camp S., Ozelius L.J., Ramesh V., Hanson P.I., and Breakefield X.O. TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J. Neurosci. Res. 2 (2003) 158-168
-
(2003)
J. Neurosci. Res.
, vol.2
, pp. 158-168
-
-
Hewett, J.1
Ziefer, P.2
Bergeron, D.3
Naismith, T.4
Boston, H.5
Slater, D.6
Wilbur, J.7
Schuback, D.8
Kamm, C.9
Smith, N.10
Camp, S.11
Ozelius, L.J.12
Ramesh, V.13
Hanson, P.I.14
Breakefield, X.O.15
-
27
-
-
2642535914
-
TorsinB-perinuclear location and association with torsinA
-
Hewett J.W., Kamm C., Boston H., Beauchamp R., Naismith T., Ozelius L., Hanson P.I., Breakefield X.O., and Ramesh V. TorsinB-perinuclear location and association with torsinA. J. Neurochem. 5 (2004) 1186-1194
-
(2004)
J. Neurochem.
, vol.5
, pp. 1186-1194
-
-
Hewett, J.W.1
Kamm, C.2
Boston, H.3
Beauchamp, R.4
Naismith, T.5
Ozelius, L.6
Hanson, P.I.7
Breakefield, X.O.8
Ramesh, V.9
-
28
-
-
33645078104
-
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
-
Hewett J.W., Zeng J., Niland B.P., Bragg D.C., and Breakefield X.O. Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol. Dis. 1 (2006) 98-111
-
(2006)
Neurobiol. Dis.
, vol.1
, pp. 98-111
-
-
Hewett, J.W.1
Zeng, J.2
Niland, B.P.3
Bragg, D.C.4
Breakefield, X.O.5
-
29
-
-
0030898745
-
Anatomy of motor learning: II. Subcortical structures and learning by trial and error
-
Jueptner M., Frith C.D., Brooks D.J., Frackowiak R.S., and Passingham R.E. Anatomy of motor learning: II. Subcortical structures and learning by trial and error. J. Neurophysiol. 3 (1997) 1325-1337
-
(1997)
J. Neurophysiol.
, vol.3
, pp. 1325-1337
-
-
Jueptner, M.1
Frith, C.D.2
Brooks, D.J.3
Frackowiak, R.S.4
Passingham, R.E.5
-
30
-
-
33845398122
-
Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
-
Kamm C., Asmus F., Mueller J., Mayer P., Sharma M., Muller U.J., Beckert S., Ehling R., Illig T., Wichmann H.E., Poewe W., Mueller J.C., and Gasser T. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 10 (2006) 1857-1859
-
(2006)
Neurology
, vol.10
, pp. 1857-1859
-
-
Kamm, C.1
Asmus, F.2
Mueller, J.3
Mayer, P.4
Sharma, M.5
Muller, U.J.6
Beckert, S.7
Ehling, R.8
Illig, T.9
Wichmann, H.E.10
Poewe, W.11
Mueller, J.C.12
Gasser, T.13
-
31
-
-
0034660063
-
Dopamine-deficient mice are hypersensitive to dopamine receptor agonists
-
Kim D.S., Szczypka M.S., and Palmiter R.D. Dopamine-deficient mice are hypersensitive to dopamine receptor agonists. J. Neurosci. 12 (2000) 4405-4413
-
(2000)
J. Neurosci.
, vol.12
, pp. 4405-4413
-
-
Kim, D.S.1
Szczypka, M.S.2
Palmiter, R.D.3
-
32
-
-
33645814863
-
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier
-
Kock N., Naismith T.V., Boston H.E., Ozelius L.J., Corey D.P., Breakefield X.O., and Hanson P.I. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum. Mol. Genet. 8 (2006) 1355-1364
-
(2006)
Hum. Mol. Genet.
, vol.8
, pp. 1355-1364
-
-
Kock, N.1
Naismith, T.V.2
Boston, H.E.3
Ozelius, L.J.4
Corey, D.P.5
Breakefield, X.O.6
Hanson, P.I.7
-
33
-
-
0034970023
-
Cellular distribution of torsin A and torsin B in normal human brain
-
Konakova M., Huynh D.P., Yong W., and Pulst S.M. Cellular distribution of torsin A and torsin B in normal human brain. Arch. Neurol. 6 (2001) 921-927
-
(2001)
Arch. Neurol.
, vol.6
, pp. 921-927
-
-
Konakova, M.1
Huynh, D.P.2
Yong, W.3
Pulst, S.M.4
-
34
-
-
0141448740
-
TorsinA protects against oxidative stress in COS-1 and PC12 cells
-
Kuner R., Teismann P., Trutzel A., Naim J., Richter A., Schmidt N., von Ahsen O., Bach A., Ferger B., and Schneider A. TorsinA protects against oxidative stress in COS-1 and PC12 cells. Neurosci. Lett. 3 (2003) 153-156
-
(2003)
Neurosci. Lett.
, vol.3
, pp. 153-156
-
-
Kuner, R.1
Teismann, P.2
Trutzel, A.3
Naim, J.4
Richter, A.5
Schmidt, N.6
von Ahsen, O.7
Bach, A.8
Ferger, B.9
Schneider, A.10
-
35
-
-
0034623158
-
Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations
-
Kustedjo K., Bracey M.H., and Cravatt B.F. Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. J. Biol. Chem. 36 (2000) 27933-27939
-
(2000)
J. Biol. Chem.
, vol.36
, pp. 27933-27939
-
-
Kustedjo, K.1
Bracey, M.H.2
Cravatt, B.F.3
-
36
-
-
0034167437
-
The pedunculopontine nucleus: its role in the genesis of movement disorders
-
Lee M.S., Rinne J.O., and Marsden C.D. The pedunculopontine nucleus: its role in the genesis of movement disorders. Yonsei Med. J. 2 (2000) 167-184
-
(2000)
Yonsei Med. J.
, vol.2
, pp. 167-184
-
-
Lee, M.S.1
Rinne, J.O.2
Marsden, C.D.3
-
37
-
-
33847367253
-
Lamin B receptor plays a role in stimulating nuclear envelope production and targeting membrane vesicles to chromatin during nuclear envelope assembly through direct interaction with importin beta
-
Ma Y., Cai S., Lv Q., Jiang Q., Zhang Q., Zhai Z., and Zhang C. Lamin B receptor plays a role in stimulating nuclear envelope production and targeting membrane vesicles to chromatin during nuclear envelope assembly through direct interaction with importin beta. J. Cell Sci. Pt. 3 (2007) 520-530
-
(2007)
J. Cell Sci.
, vol.PART 3
, pp. 520-530
-
-
Ma, Y.1
Cai, S.2
Lv, Q.3
Jiang, Q.4
Zhang, Q.5
Zhai, Z.6
Zhang, C.7
-
38
-
-
4844225770
-
Brainstem pathology in DYT1 primary torsion dystonia
-
McNaught K.S., Kapustin A., Jackson T., Jengelley T.A., Jnobaptiste R., Shashidharan P., Perl D.P., Pasik P., and Olanow C.W. Brainstem pathology in DYT1 primary torsion dystonia. Ann. Neurol. 4 (2004) 540-547
-
(2004)
Ann. Neurol.
, vol.4
, pp. 540-547
-
-
McNaught, K.S.1
Kapustin, A.2
Jackson, T.3
Jengelley, T.A.4
Jnobaptiste, R.5
Shashidharan, P.6
Perl, D.P.7
Pasik, P.8
Olanow, C.W.9
-
39
-
-
0034106888
-
Basal ganglia and cerebellar loops: motor and cognitive circuits
-
Middleton F.A., and Strick P.L. Basal ganglia and cerebellar loops: motor and cognitive circuits. Brain Res. Brain Res. Rev. 2-3 (2000) 236-250
-
(2000)
Brain Res. Brain Res. Rev.
, vol.2-3
, pp. 236-250
-
-
Middleton, F.A.1
Strick, P.L.2
-
40
-
-
20344404225
-
Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells
-
Misbahuddin A., Placzek M.R., Taanman J.W., Gschmeissner S., Schiavo G., Cooper J.M., and Warner T.T. Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells. Mov. Disord. 4 (2005) 432-440
-
(2005)
Mov. Disord.
, vol.4
, pp. 432-440
-
-
Misbahuddin, A.1
Placzek, M.R.2
Taanman, J.W.3
Gschmeissner, S.4
Schiavo, G.5
Cooper, J.M.6
Warner, T.T.7
-
41
-
-
0242329370
-
Interaction between the noradrenergic and serotonergic systems in locomotor hyperactivity and striatal expression of Fos induced by amphetamine in rats
-
Munoz A., Lopez-Real A., Labandeira-Garcia J.L., and Guerra M.J. Interaction between the noradrenergic and serotonergic systems in locomotor hyperactivity and striatal expression of Fos induced by amphetamine in rats. Exp. Brain Res. 1 (2003) 92-99
-
(2003)
Exp. Brain Res.
, vol.1
, pp. 92-99
-
-
Munoz, A.1
Lopez-Real, A.2
Labandeira-Garcia, J.L.3
Guerra, M.J.4
-
44
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
Ozelius L.J., Hewett J.W., Page C.E., Bressman S.B., Kramer P.L., Shalish C., de L., Brin M.F., Raymond D., Corey D.P., Fahn S., Risch N.J., Buckler A.J., Gusella J.F., and Breakefield X.O. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 1 (1997) 40-48
-
(1997)
Nat. Genet.
, vol.1
, pp. 40-48
-
-
Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
Bressman, S.B.4
Kramer, P.L.5
Shalish, C.6
de, L.7
Brin, M.F.8
Raymond, D.9
Corey, D.P.10
Fahn, S.11
Risch, N.J.12
Buckler, A.J.13
Gusella, J.F.14
Breakefield, X.O.15
-
45
-
-
0033572356
-
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
-
Ozelius L.J., Page C.E., Klein C., Hewett J.W., Mineta M., Leung J., Shalish C., Bressman S.B., de L., Brin M.F., Fahn S., Corey D.P., and Breakefield X.O. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 3 (1999) 377-384
-
(1999)
Genomics
, vol.3
, pp. 377-384
-
-
Ozelius, L.J.1
Page, C.E.2
Klein, C.3
Hewett, J.W.4
Mineta, M.5
Leung, J.6
Shalish, C.7
Bressman, S.B.8
de, L.9
Brin, M.F.10
Fahn, S.11
Corey, D.P.12
Breakefield, X.O.13
-
46
-
-
0031604086
-
Decreased [18F]spiperone binding in putamen in dystonia
-
Perlmutter J.S., Stambuk M.K., Markham J., Black K.J., McGee-Minnich L., Jankovic J., and Moerlein S.M. Decreased [18F]spiperone binding in putamen in dystonia. Adv. Neurol. (1998) 161-168
-
(1998)
Adv. Neurol.
, pp. 161-168
-
-
Perlmutter, J.S.1
Stambuk, M.K.2
Markham, J.3
Black, K.J.4
McGee-Minnich, L.5
Jankovic, J.6
Moerlein, S.M.7
-
47
-
-
33749984203
-
Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia
-
Pisani A., Martella G., Tscherter A., Bonsi P., Sharma N., Bernardi G., and Standaert D.G. Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia. Neurobiol. Dis. 2 (2006) 318-325
-
(2006)
Neurobiol. Dis.
, vol.2
, pp. 318-325
-
-
Pisani, A.1
Martella, G.2
Tscherter, A.3
Bonsi, P.4
Sharma, N.5
Bernardi, G.6
Standaert, D.G.7
-
48
-
-
0037329443
-
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
-
Rostasy K., Augood S.J., Hewett J.W., Leung J.C., Sasaki H., Ozelius L.J., Ramesh V., Standaert D.G., Breakefield X.O., and Hedreen J.C. TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol. Dis. 1 (2003) 11-24
-
(2003)
Neurobiol. Dis.
, vol.1
, pp. 11-24
-
-
Rostasy, K.1
Augood, S.J.2
Hewett, J.W.3
Leung, J.C.4
Sasaki, H.5
Ozelius, L.J.6
Ramesh, V.7
Standaert, D.G.8
Breakefield, X.O.9
Hedreen, J.C.10
-
49
-
-
0042691509
-
Nuclear membrane proteins with potential disease links found by subtractive proteomics
-
Schirmer E.C., Florens L., Guan T., Yates III J.R., and Gerace L. Nuclear membrane proteins with potential disease links found by subtractive proteomics. Science 5638 (2003) 1380-1382
-
(2003)
Science
, vol.5638
, pp. 1380-1382
-
-
Schirmer, E.C.1
Florens, L.2
Guan, T.3
Yates III, J.R.4
Gerace, L.5
-
50
-
-
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., and Breakefield X.O. Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J. Neurosci. 22 (2005) 5351-5355
-
(2005)
J. Neurosci.
, vol.22
, pp. 5351-5355
-
-
Sharma, N.1
Baxter, M.G.2
Petravicz, J.3
Bragg, D.C.4
Schienda, A.5
Standaert, D.G.6
Breakefield, X.O.7
-
51
-
-
19944429223
-
A transgenic mouse model of early-onset DYT1 dystonia
-
Shashidharan P., Sandu D., Potla U., Armata I.A., Walker R.H., McNaught K.S., Weisz D., Sreenath T., Brin M.F., and Olanow C.W. A transgenic mouse model of early-onset DYT1 dystonia. Hum. Mol. Genet. 1 (2005) 125-133
-
(2005)
Hum. Mol. Genet.
, vol.1
, pp. 125-133
-
-
Shashidharan, P.1
Sandu, D.2
Potla, U.3
Armata, I.A.4
Walker, R.H.5
McNaught, K.S.6
Weisz, D.7
Sreenath, T.8
Brin, M.F.9
Olanow, C.W.10
-
52
-
-
8144230422
-
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant
-
Torres G.E., Sweeney A.L., Beaulieu J.M., Shashidharan P., and Caron M.G. Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Proc. Natl. Acad. Sci. U. S. A. 44 (2004) 15650-15655
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.44
, pp. 15650-15655
-
-
Torres, G.E.1
Sweeney, A.L.2
Beaulieu, J.M.3
Shashidharan, P.4
Caron, M.G.5
-
53
-
-
0025905742
-
Serotonin regulation of tachykinin biosynthesis in the rat neostriatum
-
Walker P.D., Riley L.A., Hart R.P., and Jonakait G.M. Serotonin regulation of tachykinin biosynthesis in the rat neostriatum. Brain Res. 1 (1991) 33-39
-
(1991)
Brain Res.
, vol.1
, pp. 33-39
-
-
Walker, P.D.1
Riley, L.A.2
Hart, R.P.3
Jonakait, G.M.4
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