-
1
-
-
0037154246
-
Myoclonus dystonia: Possible association with obsessive-compulsive disorder and alcohol dependence
-
Saunders-Pullman R, Shriberg J, Heiman G, et al. Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology 2002;58:242-245.
-
(2002)
Neurology
, vol.58
, pp. 242-245
-
-
Saunders-Pullman, R.1
Shriberg, J.2
Heiman, G.3
-
2
-
-
33847029189
-
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers
-
Hess CW, Raymond D, Aguiar Pde C, et al. Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 2007;68:522-524.
-
(2007)
Neurology
, vol.68
, pp. 522-524
-
-
Hess, C.W.1
Raymond, D.2
Aguiar Pde, C.3
-
3
-
-
0036790909
-
Myoclonusdystonia syndrome: Epsilon-sarcoglycan mutations and phenotype
-
Asmus F, Zimprich A, Tezenas Du Montcel S, et al. Myoclonusdystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol 2002;52:489-492.
-
(2002)
Ann Neurol
, vol.52
, pp. 489-492
-
-
Asmus, F.1
Zimprich, A.2
Tezenas Du Montcel, S.3
-
4
-
-
0032705097
-
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
-
Nygaard TG, Raymond D, Chen C, et al. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 1999;46:794-798.
-
(1999)
Ann Neurol
, vol.46
, pp. 794-798
-
-
Nygaard, T.G.1
Raymond, D.2
Chen, C.3
-
5
-
-
0035412886
-
Neurostimulation of the ventral intermediate thalamic nucleus in inherited myoclonusdystonia syndrome
-
Trottenberg T, Meissner W, Kabus C, et al. Neurostimulation of the ventral intermediate thalamic nucleus in inherited myoclonusdystonia syndrome. Mov Disord 2001;16:769-771.
-
(2001)
Mov Disord
, vol.16
, pp. 769-771
-
-
Trottenberg, T.1
Meissner, W.2
Kabus, C.3
-
6
-
-
27844459528
-
A pilot tolerability and ef.cacy trial of sodium oxybate in ethanol-responsive movement disorders
-
Frucht SJ, Bordelon Y, Houghton WH, Reardan D. A pilot tolerability and ef.cacy trial of sodium oxybate in ethanol-responsive movement disorders. Mov Disord 2005;20:1330-1337.
-
(2005)
Mov Disord
, vol.20
, pp. 1330-1337
-
-
Frucht, S.J.1
Bordelon, Y.2
Houghton, W.H.3
Reardan, D.4
-
7
-
-
33645738757
-
A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor
-
Frucht SJ, Houghton WC, Bordelon Y, Greene PE, Louis ED. A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor. Neurology 2005;65:1967-1969.
-
(2005)
Neurology
, vol.65
, pp. 1967-1969
-
-
Frucht, S.J.1
Houghton, W.C.2
Bordelon, Y.3
Greene, P.E.4
Louis, E.D.5
-
9
-
-
14044278910
-
Limited efficacy of levetiracetam on myoclonus of different etiologies
-
Lim LL, Ahmed A. Limited efficacy of levetiracetam on myoclonus of different etiologies. Parkinsonism Relat Disord 2005;11: 135-137.
-
(2005)
Parkinsonism Relat Disord
, vol.11
, pp. 135-137
-
-
Lim, L.L.1
Ahmed, A.2
-
10
-
-
0017703587
-
Clinical, biochemical, and physiological features distinguishing myoclonus responsive to 5-hydroxytryptophan, tryptophan with a monoamine oxidase inhibitor, and clonazepam
-
Chadwick D, Hallett M, Harris R, Jenner P, Reynolds EH, Marsden CD. Clinical, biochemical, and physiological features distinguishing myoclonus responsive to 5-hydroxytryptophan, tryptophan with a monoamine oxidase inhibitor, and clonazepam. Brain 1977;100:455-487.
-
(1977)
Brain
, vol.100
, pp. 455-487
-
-
Chadwick, D.1
Hallett, M.2
Harris, R.3
Jenner, P.4
Reynolds, E.H.5
Marsden, C.D.6
-
11
-
-
4444366151
-
Deep brain stimulation in myoclonus-dystonia syndrome
-
Cif L, Valente EM, Hemm S, et al. Deep brain stimulation in myoclonus-dystonia syndrome. Mov Disord 2004;19:724-727.
-
(2004)
Mov Disord
, vol.19
, pp. 724-727
-
-
Cif, L.1
Valente, E.M.2
Hemm, S.3
-
12
-
-
21344443283
-
Pallidal stimulation relieves myoclonus-dystonia syndrome
-
Magarinos-Ascone CM, Regidor I, Martinez-Castrillo JC, Gomez-Galan M, Figueiras-Mendez R. Pallidal stimulation relieves myoclonus-dystonia syndrome. J Neurol Neurosurg Psychiatry 2005;76:989-991.
-
(2005)
J Neurol Neurosurg Psychiatry
, vol.76
, pp. 989-991
-
-
Magarinos-Ascone, C.M.1
Regidor, I.2
Martinez-Castrillo, J.C.3
Gomez-Galan, M.4
Figueiras-Mendez, R.5
-
13
-
-
84965400659
-
Drug treatment of diseases characterized by abnormal movements
-
Marsden CD. Drug treatment of diseases characterized by abnormal movements. Proc R Soc Med 1973;66:871-873.
-
(1973)
Proc R Soc Med
, vol.66
, pp. 871-873
-
-
Marsden, C.D.1
-
14
-
-
33748935502
-
Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice
-
Yokoi F, Dang MT, Li J, Li Y. Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice. J Biochem (Tokyo) 2006; 140: 141-146.
-
(2006)
J Biochem (Tokyo)
, vol.140
, pp. 141-146
-
-
Yokoi, F.1
Dang, M.T.2
Li, J.3
Li, Y.4
-
15
-
-
27644437164
-
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene
-
Asmus F, Salih F, Hjermind LE, et al. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Ann Neurol 2005;58:792-797.
-
(2005)
Ann Neurol
, vol.58
, pp. 792-797
-
-
Asmus, F.1
Salih, F.2
Hjermind, L.E.3
-
16
-
-
47549104124
-
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations
-
Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, et al. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. Mov Disord 2008;23:588-592.
-
(2008)
Mov Disord
, vol.23
, pp. 588-592
-
-
Raymond, D.1
Saunders-Pullman, R.2
de Carvalho Aguiar, P.3
-
17
-
-
0037883231
-
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome
-
Hjermind LE, Werdelin LM, Eiberg H, Krag-Olsen B, Dupont E, Sorensen SA. A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. Neurology 2003;60: 1536-1539.
-
(2003)
Neurology
, vol.60
, pp. 1536-1539
-
-
Hjermind, L.E.1
Werdelin, L.M.2
Eiberg, H.3
Krag-Olsen, B.4
Dupont, E.5
Sorensen, S.A.6
-
18
-
-
33847322639
-
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan traf.cking to the plasma membrane: Modulation by ubiquitination and torsinA
-
Esapa CT, Waite A, Locke M, et al. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan traf.cking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet 2007;16:327-342.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 327-342
-
-
Esapa, C.T.1
Waite, A.2
Locke, M.3
-
19
-
-
12144288508
-
Clinical and genetic features of myoclonus-dystonia in 3 cases: A video presentation
-
Kock N, Kasten M, Schule B, et al. Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. Mov Disord 2004;19:231-234.
-
(2004)
Mov Disord
, vol.19
, pp. 231-234
-
-
Kock, N.1
Kasten, M.2
Schule, B.3
-
20
-
-
0037159199
-
Autosomal dominant GTP-CH de.ciency presenting as a dopa-responsive myoclonus-dystonia syndrome
-
Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I. Autosomal dominant GTP-CH de.ciency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology 2002; 59:1241-1243.
-
(2002)
Neurology
, vol.59
, pp. 1241-1243
-
-
Leuzzi, V.1
Carducci, C.2
Carducci, C.3
Cardona, F.4
Artiola, C.5
Antonozzi, I.6
-
21
-
-
0442294968
-
Variability of clinical expression and evolution of spinal deformity in a family with late detection of dopa-responsive dystonia
-
Tsirikos AI, Carr LJ, Noordeen HH. Variability of clinical expression and evolution of spinal deformity in a family with late detection of dopa-responsive dystonia. Dev Med Child Neurol 2004;46:128-137.
-
(2004)
Dev Med Child Neurol
, vol.46
, pp. 128-137
-
-
Tsirikos, A.I.1
Carr, L.J.2
Noordeen, H.H.3
-
22
-
-
0041822179
-
Myoclonus in a patient with a deletion of the e-sarcoglycan locus on chromosome 7q21
-
DeBerardinis RJ, Conforto D, Russell K, et al. Myoclonus in a patient with a deletion of the e-sarcoglycan locus on chromosome 7q21. Am J Med Gen 2003;121A:31-36.
-
(2003)
Am J Med Gen
, vol.121 A
, pp. 31-36
-
-
DeBerardinis, R.J.1
Conforto, D.2
Russell, K.3
-
23
-
-
34848872531
-
Genomic deletion size at the Epsilon-Sarcoglycan locus determines the clinical phenotype
-
Asmus F, Hjermind LE, Dupont E, et al. Genomic deletion size at the Epsilon-Sarcoglycan locus determines the clinical phenotype. Brain 2007;130:2736-2745.
-
(2007)
Brain
, vol.130
, pp. 2736-2745
-
-
Asmus, F.1
Hjermind, L.E.2
Dupont, E.3
-
24
-
-
43049159814
-
Large deletions account for an increasing number of mutations in SGCE
-
Han F, Racacho L, Yang H, et al. Large deletions account for an increasing number of mutations in SGCE. Mov Disord 2008;23: 456-460.
-
(2008)
Mov Disord
, vol.23
, pp. 456-460
-
-
Han, F.1
Racacho, L.2
Yang, H.3
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