-
1
-
-
0021476278
-
The varied clinical expressions of dystonia
-
Fahn S. The varied clinical expressions of dystonia. Neurol Clinics 2 (1984) 541-554
-
(1984)
Neurol Clinics
, vol.2
, pp. 541-554
-
-
Fahn, S.1
-
2
-
-
0023675531
-
Concept and classification of dystonia
-
Fahn S. Concept and classification of dystonia. Adv Neurol 50 (1988) 1-8
-
(1988)
Adv Neurol
, vol.50
, pp. 1-8
-
-
Fahn, S.1
-
3
-
-
85057436097
-
Epidemiology of primary and secondary dystonia
-
Stacy M.A. (Ed), Informa Healthcare USA, New York
-
Defazio G. Epidemiology of primary and secondary dystonia. In: Stacy M.A. (Ed). Handbook of dystonia (2007), Informa Healthcare USA, New York 11-20
-
(2007)
Handbook of dystonia
, pp. 11-20
-
-
Defazio, G.1
-
4
-
-
4544345754
-
Classification and definition of disorders causing hypertonia in childhood
-
Task Force on Childhood Motor Disorders
-
Sanger T.D., Delgado M.R., Gaebler-Spira D., Hallett M., Mink J.W., and Task Force on Childhood Motor Disorders. Classification and definition of disorders causing hypertonia in childhood. Pediatrics 111 (2003) e89-e97
-
(2003)
Pediatrics
, vol.111
-
-
Sanger, T.D.1
Delgado, M.R.2
Gaebler-Spira, D.3
Hallett, M.4
Mink, J.W.5
-
5
-
-
0020052267
-
Dyskinetic cerebral palsy. I. Clinical categories, associated neurological abnormalities and incidences
-
Kyllerman M., Bager B., Bensch J., Bille B., Olow I., and Voss H. Dyskinetic cerebral palsy. I. Clinical categories, associated neurological abnormalities and incidences. Acta Pediatr Scand 71 (1982) 543-550
-
(1982)
Acta Pediatr Scand
, vol.71
, pp. 543-550
-
-
Kyllerman, M.1
Bager, B.2
Bensch, J.3
Bille, B.4
Olow, I.5
Voss, H.6
-
7
-
-
33751545897
-
Dystonia in Parkinson's disease
-
Tolosa E., and Compta Y. Dystonia in Parkinson's disease. J Neurol 253 Suppl 7 (2006) VII7-VII13
-
(2006)
J Neurol
, vol.253
, Issue.SUPPL. 7
-
-
Tolosa, E.1
Compta, Y.2
-
9
-
-
33750583772
-
Treatment of dystonia
-
Jankovic J. Treatment of dystonia. Lancet Neurol 5 (2006) 864-872
-
(2006)
Lancet Neurol
, vol.5
, pp. 864-872
-
-
Jankovic, J.1
-
10
-
-
33744728066
-
A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES task force
-
Albanese A., Barnes M.P., Bhatia K.P., et al. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES task force. Eur J Neurol 13 (2006) 433-444
-
(2006)
Eur J Neurol
, vol.13
, pp. 433-444
-
-
Albanese, A.1
Barnes, M.P.2
Bhatia, K.P.3
-
11
-
-
3142758463
-
Efficacy of pharmacological treatment of dystonia: evidence-based review including meta-analysis of the effect of botulinum toxin and other cure options
-
Balash Y., and Giladi N. Efficacy of pharmacological treatment of dystonia: evidence-based review including meta-analysis of the effect of botulinum toxin and other cure options. Eur J Neurol 11 (2004) 361-370
-
(2004)
Eur J Neurol
, vol.11
, pp. 361-370
-
-
Balash, Y.1
Giladi, N.2
-
13
-
-
41249093716
-
Selective denervation in cervical dystonia
-
Stacy M.A. (Ed), Informa Healthcare USA, New York
-
Arce C.A. Selective denervation in cervical dystonia. In: Stacy M.A. (Ed). Handbook of dystonia (2007), Informa Healthcare USA, New York 381-392
-
(2007)
Handbook of dystonia
, pp. 381-392
-
-
Arce, C.A.1
-
14
-
-
0033724391
-
Intrathecal baclofen for dystonia: benefits and complications during six years of experience
-
Walker R.H., Danisi F.O., Swope D.M., Goodman R.R., Germano I.M., and Brin M.F. Intrathecal baclofen for dystonia: benefits and complications during six years of experience. Mov Disord 15 (2000) 1242-1247
-
(2000)
Mov Disord
, vol.15
, pp. 1242-1247
-
-
Walker, R.H.1
Danisi, F.O.2
Swope, D.M.3
Goodman, R.R.4
Germano, I.M.5
Brin, M.F.6
-
15
-
-
41249097564
-
Treatment of dystonia with deep brain stimulation
-
Ostrem J.L., and Starr P.A. Treatment of dystonia with deep brain stimulation. Neurotherapeutics 5 (2008) 319-329
-
(2008)
Neurotherapeutics
, vol.5
, pp. 319-329
-
-
Ostrem, J.L.1
Starr, P.A.2
-
16
-
-
34848818865
-
Re-emergence of striatal cholinergic interneurons in movement disorders
-
Pisani A., Bernardi G., Ding J., and Surmeier D.J. Re-emergence of striatal cholinergic interneurons in movement disorders. Trends Neurosci 30 (2007) 545-553
-
(2007)
Trends Neurosci
, vol.30
, pp. 545-553
-
-
Pisani, A.1
Bernardi, G.2
Ding, J.3
Surmeier, D.J.4
-
19
-
-
22244442489
-
The biochemistry of Parkinson's disease
-
Cookson M.R. The biochemistry of Parkinson's disease. Annu Rev Biochem 74 (2005) 29-52
-
(2005)
Annu Rev Biochem
, vol.74
, pp. 29-52
-
-
Cookson, M.R.1
-
21
-
-
41249090400
-
Protection against Parkinson's disease progression: clinical experience
-
LeWitt P.A., and Taylor D.C. Protection against Parkinson's disease progression: clinical experience. Neurotherapeutics 5 (2008) 210-225
-
(2008)
Neurotherapeutics
, vol.5
, pp. 210-225
-
-
LeWitt, P.A.1
Taylor, D.C.2
-
22
-
-
41249094119
-
Therapeutic potentials of human embryonic stem cells in Parkinson's disease
-
Newman M.B., and Bakay R.A.E. Therapeutic potentials of human embryonic stem cells in Parkinson's disease. Neurotherapeutics 5 (2008) 237-251
-
(2008)
Neurotherapeutics
, vol.5
, pp. 237-251
-
-
Newman, M.B.1
Bakay, R.A.E.2
-
23
-
-
41249092714
-
Deep brain stimulation for Parkinson's disease
-
Limousin P., and Martinez-Torres I. Deep brain stimulation for Parkinson's disease. Neurotherapeutics 5 (2008) 309-319
-
(2008)
Neurotherapeutics
, vol.5
, pp. 309-319
-
-
Limousin, P.1
Martinez-Torres, I.2
-
24
-
-
41249086116
-
What happened to posteroventral pallidotomy for Parkinson's disease and dsytonia?
-
Gross R. What happened to posteroventral pallidotomy for Parkinson's disease and dsytonia?. Neurotherapeutics 5 (2008) 281-293
-
(2008)
Neurotherapeutics
, vol.5
, pp. 281-293
-
-
Gross, R.1
-
25
-
-
85057471053
-
Dopa-responsive dystonia
-
Stacy M.A. (Ed), Informa Healthcare USA, New York
-
Segawa M., Nomura Y., and Nishiyama N. Dopa-responsive dystonia. In: Stacy M.A. (Ed). Handbook of dystonia (2007), Informa Healthcare USA, New York 219-244
-
(2007)
Handbook of dystonia
, pp. 219-244
-
-
Segawa, M.1
Nomura, Y.2
Nishiyama, N.3
-
26
-
-
33845402105
-
A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum
-
Jinnah H.A., and Hess E.J. A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum. Neurology 67 (2006) 1740-1741
-
(2006)
Neurology
, vol.67
, pp. 1740-1741
-
-
Jinnah, H.A.1
Hess, E.J.2
-
28
-
-
41249097376
-
Brain surgery for dystonia
-
Stacy M.A. (Ed), Informa Healthcare USA, New York
-
Marks Jr. W.J. Brain surgery for dystonia. In: Stacy M.A. (Ed). Handbook of dystonia (2007), Informa Healthcare USA, New York 393-406
-
(2007)
Handbook of dystonia
, pp. 393-406
-
-
Marks Jr., W.J.1
-
29
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
Ozelius L.J., Hewett J.W., Page C.E., et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17 (1997) 40-48
-
(1997)
Nat Genet
, vol.17
, pp. 40-48
-
-
Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
-
30
-
-
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 101 (2004) 847-853
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 847-853
-
-
Goodchild, R.E.1
Dauer, W.T.2
-
31
-
-
8144230422
-
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-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 ΔE-torsinA mutant. Proc Natl Acad Sci U S A 101 (2004) 15650-15655
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 15650-15655
-
-
Torres, G.E.1
Sweeney, A.L.2
Beaulieu, J.M.3
Shashidharan, P.4
Caron, M.G.5
-
32
-
-
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., et al. 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 20 (2005) 432-440
-
(2005)
Mov Disord
, vol.20
, pp. 432-440
-
-
Misbahuddin, A.1
Placzek, M.R.2
Taanman, J.W.3
-
33
-
-
34447303772
-
Dopamine release is impaired in a mouse model of DYT1 dystonia
-
Balcioglu A., Kim M.O., Sharma N., Cha J.H., Breakefield X.O., and Standaert D.G. Dopamine release is impaired in a mouse model of DYT1 dystonia. J Neurochem 102 (2007) 783-788
-
(2007)
J Neurochem
, vol.102
, pp. 783-788
-
-
Balcioglu, A.1
Kim, M.O.2
Sharma, N.3
Cha, J.H.4
Breakefield, X.O.5
Standaert, D.G.6
-
34
-
-
34249850241
-
Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
-
Hewett J.W., Tannous B., Niland B.P., et al. Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. Proc Natl Acad Sci U S A 104 (2007) 7271-7276
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 7271-7276
-
-
Hewett, J.W.1
Tannous, B.2
Niland, B.P.3
-
35
-
-
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 22 (2006) 98-111
-
(2006)
Neurobiol Dis
, vol.22
, pp. 98-111
-
-
Hewett, J.W.1
Zeng, J.2
Niland, B.P.3
Bragg, D.C.4
Breakefield, X.O.5
-
36
-
-
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., et al. 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 24 (2006) 318-325
-
(2006)
Neurobiol Dis
, vol.24
, pp. 318-325
-
-
Pisani, A.1
Martella, G.2
Tscherter, A.3
-
37
-
-
0034702033
-
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
-
Hewett J., Gonzalez-Agosti C., Slater D., et al. 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-Agosti, C.2
Slater, D.3
-
38
-
-
4844225770
-
Brainstem pathology in DYT1 primary torsion dystonia
-
[Erratum in: Ann Neurol 2004;56:750]
-
McNaught K.S., Kapustin A., Jackson T., et al. Brainstem pathology in DYT1 primary torsion dystonia. [Erratum in: Ann Neurol 2004;56:750]. Ann Neurol 56 (2004) 541-547
-
(2004)
Ann Neurol
, vol.56
, pp. 541-547
-
-
McNaught, K.S.1
Kapustin, A.2
Jackson, T.3
-
39
-
-
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 48 (2005) 923-932
-
(2005)
Neuron
, vol.48
, pp. 923-932
-
-
Goodchild, R.E.1
Kim, C.E.2
Dauer, W.T.3
-
40
-
-
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 17 (2004) 2593-2601
-
(2004)
J Neurosci
, vol.17
, pp. 2593-2601
-
-
Gonzalez-Alegre, P.1
Paulson, H.L.2
-
41
-
-
0031716770
-
Functional brain networks in DYT1 dystonia
-
Eidelberg D., Moeller J.R., Antonini A., et al. Functional brain networks in DYT1 dystonia. Ann Neurol 44 (1998) 303-312
-
(1998)
Ann Neurol
, vol.44
, pp. 303-312
-
-
Eidelberg, D.1
Moeller, J.R.2
Antonini, A.3
-
42
-
-
27744533560
-
Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia
-
Gonzalez-Alegre P., Bode N., Davidson B.L., and Paulson H.L. Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia. J Neurosci 25 (2005) 10502-10509
-
(2005)
J Neurosci
, vol.25
, pp. 10502-10509
-
-
Gonzalez-Alegre, P.1
Bode, N.2
Davidson, B.L.3
Paulson, H.L.4
-
43
-
-
0037319121
-
Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins
-
Caldwell G.A., Cao S., Sexton E.G., Gelwix C.C., Bevel J.P., and Caldwell K.A. Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins. Hum Mol Genet 12 (2003) 307-319
-
(2003)
Hum Mol Genet
, vol.12
, pp. 307-319
-
-
Caldwell, G.A.1
Cao, S.2
Sexton, E.G.3
Gelwix, C.C.4
Bevel, J.P.5
Caldwell, K.A.6
-
44
-
-
17644392138
-
Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans
-
Cao S., Gelwix C.C., Caldwell K.A., and Caldwell G.A. Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans. J Neurosci 25 (2005) 3801-3812
-
(2005)
J Neurosci
, vol.25
, pp. 3801-3812
-
-
Cao, S.1
Gelwix, C.C.2
Caldwell, K.A.3
Caldwell, G.A.4
-
45
-
-
0036846119
-
TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation
-
McLean P.J., Kawamata H., Shariff S., et al. TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation. J Neurochem 83 (2002) 846-854
-
(2002)
J Neurochem
, vol.83
, pp. 846-854
-
-
McLean, P.J.1
Kawamata, H.2
Shariff, S.3
-
46
-
-
18244406025
-
Torsin A haplotype predisposes to idiopathic dystonia
-
Clarimon J., Asgeirsson H., Singleton A., et al. Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol 57 (2005) 765-767
-
(2005)
Ann Neurol
, vol.57
, pp. 765-767
-
-
Clarimon, J.1
Asgeirsson, H.2
Singleton, A.3
-
47
-
-
33845398122
-
Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
-
Kamm C., Asmus F., Mueller J., et al. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 67 (2006) 1857-1859
-
(2006)
Neurology
, vol.67
, pp. 1857-1859
-
-
Kamm, C.1
Asmus, F.2
Mueller, J.3
-
48
-
-
0344896723
-
Candidate gene studies in focal dystonia
-
Sibbing D., Asmus F., König I.R., et al. Candidate gene studies in focal dystonia. Neurology 61 (2003) 1010-1097
-
(2003)
Neurology
, vol.61
, pp. 1010-1097
-
-
Sibbing, D.1
Asmus, F.2
König, I.R.3
-
49
-
-
33645827756
-
Lack of association with torsinA haplotype in German patients with sporadic dystonia
-
Hague S., Klaffke S., Clarimon J., et al. Lack of association with torsinA haplotype in German patients with sporadic dystonia. Neurology 66 (2006) 951-952
-
(2006)
Neurology
, vol.66
, pp. 951-952
-
-
Hague, S.1
Klaffke, S.2
Clarimon, J.3
-
50
-
-
33847762857
-
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
-
Clarimon J., Brancati F., Peckham E., et al. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov Disord 22 (2006) 162-166
-
(2006)
Mov Disord
, vol.22
, pp. 162-166
-
-
Clarimon, J.1
Brancati, F.2
Peckham, E.3
-
51
-
-
0142072112
-
Dysfunction of dopaminergic pathways in dystonia
-
Perlmutter J.S., and Mink J.W. Dysfunction of dopaminergic pathways in dystonia. Adv Neurol 94 (2004) 163-170
-
(2004)
Adv Neurol
, vol.94
, pp. 163-170
-
-
Perlmutter, J.S.1
Mink, J.W.2
-
52
-
-
33646227430
-
Delineation of the motor disorder of Lesch-Nyhan disease
-
Lesch-Nyhan Disease International Study Group
-
Jinnah H.A., Visser J.E., Harris J.C., et al., Lesch-Nyhan Disease International Study Group. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 129 (2006) 1201-1217
-
(2006)
Brain
, vol.129
, pp. 1201-1217
-
-
Jinnah, H.A.1
Visser, J.E.2
Harris, J.C.3
-
54
-
-
0025266077
-
Induction of chorea and dystonia in Parkinsonian primates
-
Boyce S., Clarke C.E., Luquin R., et al. Induction of chorea and dystonia in Parkinsonian primates. Mov Disord 5 (1990) 3-7
-
(1990)
Mov Disord
, vol.5
, pp. 3-7
-
-
Boyce, S.1
Clarke, C.E.2
Luquin, R.3
-
55
-
-
0030659028
-
MPTP induces dystonia and parkinsonism: clues to the pathophysiology of dystonia
-
Perlmutter J.S., Tempel L.W., Black K.J., et al. MPTP induces dystonia and parkinsonism: clues to the pathophysiology of dystonia. Neurology 49 (1997) 1432-1438
-
(1997)
Neurology
, vol.49
, pp. 1432-1438
-
-
Perlmutter, J.S.1
Tempel, L.W.2
Black, K.J.3
-
56
-
-
41249089131
-
Neuroimaging in dystonia
-
Stacy M.A. (Ed), Informa Healthcare USA, New York
-
Troiano A.R., and Stoessl A.J. Neuroimaging in dystonia. In: Stacy M.A. (Ed). Handbook of dystonia (2007), Informa Healthcare USA, New York 93-106
-
(2007)
Handbook of dystonia
, pp. 93-106
-
-
Troiano, A.R.1
Stoessl, A.J.2
-
58
-
-
41249085543
-
Drug-induced dystonia
-
Stacy M.A. (Ed), Informa Healthcare USA, New York
-
Cardoso F. Drug-induced dystonia. In: Stacy M.A. (Ed). Handbook of dystonia (2007), Informa Healthcare USA, New York 267-276
-
(2007)
Handbook of dystonia
, pp. 267-276
-
-
Cardoso, F.1
-
59
-
-
0036212214
-
The genetics of primary dystonias and related disorders
-
Nemeth A.H. The genetics of primary dystonias and related disorders. Brain 125 (2002) 695-721
-
(2002)
Brain
, vol.125
, pp. 695-721
-
-
Nemeth, A.H.1
-
60
-
-
0033452870
-
Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation
-
Sudarsky L., Plotkin G.M., Logigian E.L., and Johns D.R. Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation. Mov Disord 14 (1999) 488-491
-
(1999)
Mov Disord
, vol.14
, pp. 488-491
-
-
Sudarsky, L.1
Plotkin, G.M.2
Logigian, E.L.3
Johns, D.R.4
-
61
-
-
4744351530
-
Pyruvate dehydrogenase deficiency presenting as dystonia in childhood
-
Head R.A., de Goede C.G., Newton R.W., et al. Pyruvate dehydrogenase deficiency presenting as dystonia in childhood. Dev Med Child Neurol 46 (2004) 710-712
-
(2004)
Dev Med Child Neurol
, vol.46
, pp. 710-712
-
-
Head, R.A.1
de Goede, C.G.2
Newton, R.W.3
-
62
-
-
34548218295
-
Homoplasmy, heteroplasmy, and mitochondrial dystonia
-
McFarland R., Chinnery P.F., Blakely E.L., et al. Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology 69 (2007) 911-916
-
(2007)
Neurology
, vol.69
, pp. 911-916
-
-
McFarland, R.1
Chinnery, P.F.2
Blakely, E.L.3
-
63
-
-
0141457357
-
A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia
-
Simon D.K., Friedman J., Breakefield X.O., et al. A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Neurogenetics 4 (2003) 199-205
-
(2003)
Neurogenetics
, vol.4
, pp. 199-205
-
-
Simon, D.K.1
Friedman, J.2
Breakefield, X.O.3
-
64
-
-
0034795004
-
A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome
-
Swerdlow R.H., and Wooten G.F. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. Ann Neurol 50 (2001) 537-540
-
(2001)
Ann Neurol
, vol.50
, pp. 537-540
-
-
Swerdlow, R.H.1
Wooten, G.F.2
-
65
-
-
34548257274
-
Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice site mutation in the deafness/dystonia peptide gene
-
Kim H.T., Edwards M.J., Tyson J., Quinn N.P., Bitner-Glindzicz M., and Bhatia K.P. Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice site mutation in the deafness/dystonia peptide gene. Mov Disord 22 (2007) 1328-1331
-
(2007)
Mov Disord
, vol.22
, pp. 1328-1331
-
-
Kim, H.T.1
Edwards, M.J.2
Tyson, J.3
Quinn, N.P.4
Bitner-Glindzicz, M.5
Bhatia, K.P.6
-
66
-
-
0343674536
-
Mitochondriopathy, blepharospasm, and treatment with botulinum toxin
-
Müller-Vahl K.R., Kolbe H., Egensperger R., and Dengler R. Mitochondriopathy, blepharospasm, and treatment with botulinum toxin. Muscle Nerve 23 (2000) 647-648
-
(2000)
Muscle Nerve
, vol.23
, pp. 647-648
-
-
Müller-Vahl, K.R.1
Kolbe, H.2
Egensperger, R.3
Dengler, R.4
-
67
-
-
0029440732
-
Delayed dystonia with striatal CT lucencies induced by a mycotoxin (3-nitropropionic acid)
-
He F., Zhang S., Qian F., and Zhang C. Delayed dystonia with striatal CT lucencies induced by a mycotoxin (3-nitropropionic acid). Neurology 45 (1995) 2178-2183
-
(1995)
Neurology
, vol.45
, pp. 2178-2183
-
-
He, F.1
Zhang, S.2
Qian, F.3
Zhang, C.4
-
68
-
-
0034068933
-
Delayed onset of progressive dystonia following subacute 3-nitropropionic acid treatment in Cebus apella monkeys
-
Palfi S., Leventhal L., Goetz C.G., et al. Delayed onset of progressive dystonia following subacute 3-nitropropionic acid treatment in Cebus apella monkeys. Mov Disord 15 (2000) 524-530
-
(2000)
Mov Disord
, vol.15
, pp. 524-530
-
-
Palfi, S.1
Leventhal, L.2
Goetz, C.G.3
-
69
-
-
0030887847
-
Complex I function in familial and sporadic dystonia
-
Schapira A.H., Warner T., Gash M.T., Cleeter M.W., Marinho C.F., and Cooper J.M. Complex I function in familial and sporadic dystonia. Ann Neurol 41 (1997) 556-559
-
(1997)
Ann Neurol
, vol.41
, pp. 556-559
-
-
Schapira, A.H.1
Warner, T.2
Gash, M.T.3
Cleeter, M.W.4
Marinho, C.F.5
Cooper, J.M.6
-
70
-
-
0026450789
-
Electron transfer complex I defect in idiopathic dystonia
-
Benecke R., Strumper P., and Weiss H. Electron transfer complex I defect in idiopathic dystonia. Ann Neurol 32 (1992) 683-686
-
(1992)
Ann Neurol
, vol.32
, pp. 683-686
-
-
Benecke, R.1
Strumper, P.2
Weiss, H.3
-
71
-
-
33645963751
-
Task-specific hand dystonia: can too much plasticity be bad for you?
-
Quartarone A., Siebner H.R., and Rothwell J.C. Task-specific hand dystonia: can too much plasticity be bad for you?. Trends Neurosci 29 (2006) 192-199
-
(2006)
Trends Neurosci
, vol.29
, pp. 192-199
-
-
Quartarone, A.1
Siebner, H.R.2
Rothwell, J.C.3
-
72
-
-
0344255694
-
Systems-level studies of movement disorders in dystonia and Parkinson's disease
-
Rothwell J.C., and Huang Y.Z. Systems-level studies of movement disorders in dystonia and Parkinson's disease. Curr Opin Neurobiol 13 (2003) 691-695
-
(2003)
Curr Opin Neurobiol
, vol.13
, pp. 691-695
-
-
Rothwell, J.C.1
Huang, Y.Z.2
-
73
-
-
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., and Eidelberg D. Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study. Brain 131 (2008) 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
-
74
-
-
33750298341
-
Pathophysiology of dystonia
-
Hallett M. Pathophysiology of dystonia. J Neural Transm Suppl 70 (2006) 485-488
-
(2006)
J Neural Transm Suppl
, vol.70
, pp. 485-488
-
-
Hallett, M.1
-
75
-
-
19944429223
-
Transgenic mouse model of early-onset DYT1 dystonia
-
Shashidharan P., Sandu D., Potla U., et al. Transgenic mouse model of early-onset DYT1 dystonia. Hum Mol Genet 14 (2005) 125-133
-
(2005)
Hum Mol Genet
, vol.14
, pp. 125-133
-
-
Shashidharan, P.1
Sandu, D.2
Potla, U.3
-
76
-
-
34447641630
-
Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
-
Grundmann K., Reischmann B., Vanhoutte G., et al. Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol Dis 27 (2007) 190-206
-
(2007)
Neurobiol Dis
, vol.27
, pp. 190-206
-
-
Grundmann, K.1
Reischmann, B.2
Vanhoutte, G.3
-
77
-
-
20044374519
-
Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation
-
Sharma N., Baxter M.G., Petravicz J., et al. Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J Neurosci 25 (2005) 5351-5355
-
(2005)
J Neurosci
, vol.25
, pp. 5351-5355
-
-
Sharma, N.1
Baxter, M.G.2
Petravicz, J.3
-
78
-
-
18144430546
-
Rodent models for dystonia research: characteristics, evaluation, and utility
-
Jinnah H.A., Hess E.J., LeDoux M.S., et al. Rodent models for dystonia research: characteristics, evaluation, and utility. Mov Disord 20 (2005) 283-292
-
(2005)
Mov Disord
, vol.20
, pp. 283-292
-
-
Jinnah, H.A.1
Hess, E.J.2
LeDoux, M.S.3
-
79
-
-
0016914818
-
Dystonia musculorum: an inherited disease of the nervous system in the mouse
-
Duchen L.W. Dystonia musculorum: an inherited disease of the nervous system in the mouse. Adv Neurol 14 (1976) 353-365
-
(1976)
Adv Neurol
, vol.14
, pp. 353-365
-
-
Duchen, L.W.1
-
80
-
-
0021222931
-
Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans
-
Lorden J.F., McKeon T.W., Baker H.J., et al. Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans. J Neurosci 4 (1984) 1925-1932
-
(1984)
J Neurosci
, vol.4
, pp. 1925-1932
-
-
Lorden, J.F.1
McKeon, T.W.2
Baker, H.J.3
-
81
-
-
0030584085
-
Absence epilepsy in tottering mutant mice is associated with calcium channel defects
-
Fletcher C.F., Lutz C.M., O'Sullivan T.N., et al. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 87 (1996) 607-617
-
(1996)
Cell
, vol.87
, pp. 607-617
-
-
Fletcher, C.F.1
Lutz, C.M.2
O'Sullivan, T.N.3
-
82
-
-
0031064169
-
Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice
-
Doyle J., Ren X., Lennon G., and Stubbs L. Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mamm Genome 8 (1997) 113-120
-
(1997)
Mamm Genome
, vol.8
, pp. 113-120
-
-
Doyle, J.1
Ren, X.2
Lennon, G.3
Stubbs, L.4
-
83
-
-
0036077774
-
Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation
-
Giffin N.J., Benton S., and Goadsby P.J. Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol 44 (2002) 490-493
-
(2002)
Dev Med Child Neurol
, vol.44
, pp. 490-493
-
-
Giffin, N.J.1
Benton, S.2
Goadsby, P.J.3
-
84
-
-
13444249849
-
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia
-
Spacey S.D., Materek L.A., Szczygielski B.I., et al. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol 62 (2005) 314-316
-
(2005)
Arch Neurol
, vol.62
, pp. 314-316
-
-
Spacey, S.D.1
Materek, L.A.2
Szczygielski, B.I.3
-
85
-
-
0036348327
-
Triggers of paroxysmal dyskinesias in the calcium channel mouse mutant tottering
-
Fureman B.E., Jinnah H.A., and Hess E.J. Triggers of paroxysmal dyskinesias in the calcium channel mouse mutant tottering. Pharmacol Biochem Behav 73 (2002) 631-637
-
(2002)
Pharmacol Biochem Behav
, vol.73
, pp. 631-637
-
-
Fureman, B.E.1
Jinnah, H.A.2
Hess, E.J.3
-
87
-
-
0024365484
-
The sz mutant hamster: a genetic model of epilepsy or of paroxysmal dystonia?
-
Löscher W., Fisher Jr. J.E., Schmidt D., Fredow G., Hönack D., and Iturrian W.B. The sz mutant hamster: a genetic model of epilepsy or of paroxysmal dystonia?. Mov Disord 4 (1989) 219-232
-
(1989)
Mov Disord
, vol.4
, pp. 219-232
-
-
Löscher, W.1
Fisher Jr., J.E.2
Schmidt, D.3
Fredow, G.4
Hönack, D.5
Iturrian, W.B.6
-
88
-
-
0032040365
-
Pathology of idiopathic dystonia: findings from genetic animal models
-
Richter A., and Löscher W. Pathology of idiopathic dystonia: findings from genetic animal models. Prog Neurobiol 54 (1998) 633-677
-
(1998)
Prog Neurobiol
, vol.54
, pp. 633-677
-
-
Richter, A.1
Löscher, W.2
-
90
-
-
41249099426
-
Gene expression studies in a novel rat dystonia model
-
(abstract)
-
Alvarez-Fischer D., Grundmann M., Lu L., Moller C., Oertel W.H., and Bandmann O. Gene expression studies in a novel rat dystonia model. Mov Disord 19 (2004) S98 (abstract)
-
(2004)
Mov Disord
, vol.19
-
-
Alvarez-Fischer, D.1
Grundmann, M.2
Lu, L.3
Moller, C.4
Oertel, W.H.5
Bandmann, O.6
-
91
-
-
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., et al. Subacute systemic 3-nitropropionic acid intoxication induces a distinct motor disorder in adult C57Bl/6 mice: behavioural and histopathological characterisation. Neuroscience 114 (2002) 1005-1017
-
(2002)
Neuroscience
, vol.114
, pp. 1005-1017
-
-
Fernagut, P.O.1
Diguet, E.2
Stefanova, N.3
-
92
-
-
0034127284
-
Major strain differences in response to chronic systemic administration of the mitochondrial toxin 3-nitropropionic acid in rats: implications for neuroprotection studies
-
Ouary S., Bizat N., Altairac S., et al. Major strain differences in response to chronic systemic administration of the mitochondrial toxin 3-nitropropionic acid in rats: implications for neuroprotection studies. Neuroscience 97 (2000) 521-530
-
(2000)
Neuroscience
, vol.97
, pp. 521-530
-
-
Ouary, S.1
Bizat, N.2
Altairac, S.3
-
93
-
-
0034034781
-
Calcium channel agonists and dystonia in the mouse
-
Jinnah H.A., Sepkuty J.P., Ho T., et al. Calcium channel agonists and dystonia in the mouse. Mov Disord 15 (2000) 542-551
-
(2000)
Mov Disord
, vol.15
, pp. 542-551
-
-
Jinnah, H.A.1
Sepkuty, J.P.2
Ho, T.3
-
94
-
-
33847626563
-
Nifedipine suppresses self-injurious behavior in animals
-
Blake B.L., Muehlmann A.M., Egami K., Breese G.R., Devine D.P., and Jinnah H.A. Nifedipine suppresses self-injurious behavior in animals. Dev Neurosci 29 (2007) 241-250
-
(2007)
Dev Neurosci
, vol.29
, pp. 241-250
-
-
Blake, B.L.1
Muehlmann, A.M.2
Egami, K.3
Breese, G.R.4
Devine, D.P.5
Jinnah, H.A.6
-
95
-
-
84882327552
-
Utility of 6-hydroxydopamine lesioned rats in preclinical screening of novel treatments for Parkinson disease
-
LeDoux M. (Ed), Elsevier, Amsterdam
-
Cenci M.A., and Lundblad M. Utility of 6-hydroxydopamine lesioned rats in preclinical screening of novel treatments for Parkinson disease. In: LeDoux M. (Ed). Animal models of movement disorders (2005), Elsevier, Amsterdam 193-208
-
(2005)
Animal models of movement disorders
, pp. 193-208
-
-
Cenci, M.A.1
Lundblad, M.2
-
96
-
-
84882325932
-
The assessment of movement disorders in rodents
-
LeDoux M. (Ed), Elsevier Academic Press, San Diego
-
Jinnah H.A., and Hess E.J. The assessment of movement disorders in rodents. In: LeDoux M. (Ed). Animal models of movement disorders (2005), Elsevier Academic Press, San Diego 55-71
-
(2005)
Animal models of movement disorders
, pp. 55-71
-
-
Jinnah, H.A.1
Hess, E.J.2
-
97
-
-
0037354472
-
Rating scales for dystonia: a multicenter trial
-
Dystonia Study Group
-
Comella C.L., Leurgans S., Wuu J., Stebbins G.T., Chmura T., and Dystonia Study Group. Rating scales for dystonia: a multicenter trial. Mov Disord 18 (2003) 303-312
-
(2003)
Mov Disord
, vol.18
, pp. 303-312
-
-
Comella, C.L.1
Leurgans, S.2
Wuu, J.3
Stebbins, G.T.4
Chmura, T.5
-
98
-
-
0024415059
-
Antiepileptic drug development program: a cooperative effort of government and industry
-
Kupferberg H.J. Antiepileptic drug development program: a cooperative effort of government and industry. Epilepsia 30 Suppl 1 (1989) S51-S56
-
(1989)
Epilepsia
, vol.30
, Issue.SUPPL. 1
-
-
Kupferberg, H.J.1
|