-
1
-
-
84880772785
-
Phenomenology and classification of dystonia: a consensus update
-
PID: 23649720
-
Albanese A, Bhatia K, Bressman SB et al (2013) Phenomenology and classification of dystonia: a consensus update. Mov Disord 28:863–873
-
(2013)
Mov Disord
, vol.28
, pp. 863-873
-
-
Albanese, A.1
Bhatia, K.2
Bressman, S.B.3
-
2
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
COI: 1:CAS:528:DyaK2sXlvVCrsr0%3D, PID: 9288096
-
Ozelius LJ, Hewett JW, Page CE et al (1997) The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17:40–48
-
(1997)
Nat Genet
, vol.17
, pp. 40-48
-
-
Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
-
3
-
-
61349178832
-
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
-
COI: 1:CAS:528:DC%2BD1MXht1ehsrg%3D, PID: 19182804
-
Fuchs T, Gavarini S, Saunders-Pullman R et al (2009) Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 41:286–288
-
(2009)
Nat Genet
, vol.41
, pp. 286-288
-
-
Fuchs, T.1
Gavarini, S.2
Saunders-Pullman, R.3
-
5
-
-
64349090856
-
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
-
COI: 1:CAS:528:DC%2BD1MXlsVajsLg%3D, PID: 19345147
-
Bressman SBRD, Fuchs T, Heiman G, Ozelius LJ, Saunders-Pullman R (2009) Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 8:441–446
-
(2009)
Lancet Neurol
, vol.8
, pp. 441-446
-
-
Bressman, S.B.R.D.1
Fuchs, T.2
Heiman, G.3
Ozelius, L.J.4
Saunders-Pullman, R.5
-
6
-
-
64749086402
-
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
-
COI: 1:CAS:528:DC%2BD1MXlsVajsLc%3D, PID: 19345148
-
Djarmati A, Schneider SA, Lohmann K et al (2009) Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 8:447–452
-
(2009)
Lancet Neurol
, vol.8
, pp. 447-452
-
-
Djarmati, A.1
Schneider, S.A.2
Lohmann, K.3
-
7
-
-
33750706519
-
Pallidal deep-brain stimulation in primary generalized or segmental dystonia
-
COI: 1:CAS:528:DC%2BD28XhtFymur%2FE, PID: 17093249
-
Kupsch A, Benecke R, Muller J et al (2006) Pallidal deep-brain stimulation in primary generalized or segmental dystonia. New Engl J Med 355:1978–1990
-
(2006)
New Engl J Med
, vol.355
, pp. 1978-1990
-
-
Kupsch, A.1
Benecke, R.2
Muller, J.3
-
8
-
-
39549087459
-
Pallidal deep brain stimulation improves quality of life in segmental and generalized dystonia: results from a prospective, randomized sham-controlled trial
-
Mueller J, Skogseid IM, Benecke R et al (2008) Pallidal deep brain stimulation improves quality of life in segmental and generalized dystonia: results from a prospective, randomized sham-controlled trial. Mov Disord Off J Mov Dis Soc 23:131–134
-
(2008)
Mov Disord Off J Mov Dis Soc
, vol.23
, pp. 131-134
-
-
Mueller, J.1
Skogseid, I.M.2
Benecke, R.3
-
9
-
-
33846860660
-
Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study
-
PID: 17303528
-
Vidailhet M, Vercueil L, Houeto J-L et al (2007) Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study. Lancet Neurol 6:223–229
-
(2007)
Lancet Neurol
, vol.6
, pp. 223-229
-
-
Vidailhet, M.1
Vercueil, L.2
Houeto, J.-L.3
-
10
-
-
84869144640
-
Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial
-
PID: 23123071
-
Volkmann J, Wolters A, Kupsch A et al (2012) Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial. Lancet Neurol 11:1029–1038
-
(2012)
Lancet Neurol
, vol.11
, pp. 1029-1038
-
-
Volkmann, J.1
Wolters, A.2
Kupsch, A.3
-
11
-
-
3242805938
-
Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results
-
PID: 15309907
-
Coubes P, Cif L, El Fertit H et al (2004) Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results. J Neurosurg 101:189–194
-
(2004)
J Neurosurg
, vol.101
, pp. 189-194
-
-
Coubes, P.1
Cif, L.2
El Fertit, H.3
-
12
-
-
46849099182
-
Outcome predictors of pallidal stimulation in patients with primary dystonia: the role of disease duration
-
Isaias IU, Alterman RL, Tagliati M (2008) Outcome predictors of pallidal stimulation in patients with primary dystonia: the role of disease duration. Brain J Neurol 131:1895–1902
-
(2008)
Brain J Neurol
, vol.131
, pp. 1895-1902
-
-
Isaias, I.U.1
Alterman, R.L.2
Tagliati, M.3
-
13
-
-
84864264958
-
Shorter disease duration correlates with improved long-term deep brain stimulation outcomes in young-onset DYT1 dystonia
-
PID: 22811083
-
Markun LC, Starr PA, Air EL, Marks WJ Jr, Volz MM, Ostrem JL (2012) Shorter disease duration correlates with improved long-term deep brain stimulation outcomes in young-onset DYT1 dystonia. Neurosurgery 71:325–330
-
(2012)
Neurosurgery
, vol.71
, pp. 325-330
-
-
Markun, L.C.1
Starr, P.A.2
Air, E.L.3
Marks, W.J.4
Volz, M.M.5
Ostrem, J.L.6
-
14
-
-
78649630624
-
Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes
-
PID: 20841370
-
Andrews C, Aviles-Olmos I, Hariz M, Foltynie T (2010) Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes. J Neurol Neurosurg Psychiatry 81:1383–1389
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 1383-1389
-
-
Andrews, C.1
Aviles-Olmos, I.2
Hariz, M.3
Foltynie, T.4
-
15
-
-
77649193103
-
Bilateral pallidal stimulation in children and adolescents with primary generalized dystonia—report of six patients and literature-based analysis of predictive outcomes variables
-
PID: 19403250
-
Borggraefe I, Mehrkens JH, Telegravciska M, Berweck S, Botzel K, Heinen F (2010) Bilateral pallidal stimulation in children and adolescents with primary generalized dystonia—report of six patients and literature-based analysis of predictive outcomes variables. Brain Dev 32:223–228
-
(2010)
Brain Dev
, vol.32
, pp. 223-228
-
-
Borggraefe, I.1
Mehrkens, J.H.2
Telegravciska, M.3
Berweck, S.4
Botzel, K.5
Heinen, F.6
-
17
-
-
77958521426
-
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation
-
PID: 20687191
-
Groen JL, Ritz K, Contarino MF et al (2010) DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord 25:2420–2427
-
(2010)
Mov Disord
, vol.25
, pp. 2420-2427
-
-
Groen, J.L.1
Ritz, K.2
Contarino, M.F.3
-
19
-
-
77958578230
-
Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
-
Zittel S, Moll CK, Bruggemann N et al (2010) Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Off J Mov Disord Soc 25:2405–2412
-
(2010)
Mov Off J Mov Disord Soc
, vol.25
, pp. 2405-2412
-
-
Zittel, S.1
Moll, C.K.2
Bruggemann, N.3
-
20
-
-
79955136529
-
DYT 6—a novel THAP1 mutation with excellent effect on pallidal DBS
-
Jech RBM, Křepelová A, Urgošík D, Havránková P, Růžička E (2011) DYT 6—a novel THAP1 mutation with excellent effect on pallidal DBS. Mov Off J Mov Disord Soc 26:924–925
-
(2011)
Mov Off J Mov Disord Soc
, vol.26
, pp. 924-925
-
-
Jech, R.B.M.1
Křepelová, A.2
Urgošík, D.3
Havránková, P.4
Růžička, E.5
-
21
-
-
84947863179
-
Pallidal deep brain stimulation in DYT6: significant long-term improvement of dystonia and disability
-
França S, Linhares P, Rosas MJ, Volkmann J (2014) Pallidal deep brain stimulation in DYT6: significant long-term improvement of dystonia and disability. Mov Disord Clin Pract 1(2):118–120
-
(2014)
Mov Disord Clin Prac
, vol.1
, Issue.2
, pp. 118-120
-
-
França, S.1
Linhares, P.2
Rosas, M.J.3
Volkmann, J.4
-
22
-
-
84924177907
-
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia
-
PID: 25653290
-
Bruggemann N, Kuhn A, Schneider SA et al (2015) Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology 84:895–903
-
(2015)
Neurology
, vol.84
, pp. 895-903
-
-
Bruggemann, N.1
Kuhn, A.2
Schneider, S.A.3
-
23
-
-
84855811876
-
Identification and functional analysis of novel THAP1 mutations
-
COI: 1:CAS:528:DC%2BC38XnslajsA%3D%3D, PID: 21847143
-
Lohmann K, Uflacker N, Erogullari A et al (2012) Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet 20:171–175
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 171-175
-
-
Lohmann, K.1
Uflacker, N.2
Erogullari, A.3
-
24
-
-
0344443237
-
Patterning of globus pallidus local field potentials differs between Parkinson’s disease and dystonia
-
Silberstein P, Kuhn AA, Kupsch A et al (2003) Patterning of globus pallidus local field potentials differs between Parkinson’s disease and dystonia. Brain J Neurol 126:2597–2608
-
(2003)
Brain J Neurol
, vol.126
, pp. 2597-2608
-
-
Silberstein, P.1
Kuhn, A.A.2
Kupsch, A.3
-
25
-
-
77649131460
-
Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study
-
Cif L, Vasques X, Gonzalez V et al (2010) Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study. Mov Off J Mov Disord Soc 25:289–299
-
(2010)
Mov Off J Mov Disord Soc
, vol.25
, pp. 289-299
-
-
Cif, L.1
Vasques, X.2
Gonzalez, V.3
-
26
-
-
19944430215
-
Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia
-
COI: 1:CAS:528:DC%2BD2MXptlWktg%3D%3D, PID: 15689584
-
Vidailhet M, Vercueil L, Houeto JL et al (2005) Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia. New Engl J Med 352:459–467
-
(2005)
New Engl J Med
, vol.352
, pp. 459-467
-
-
Vidailhet, M.1
Vercueil, L.2
Houeto, J.L.3
-
27
-
-
33847743823
-
Patterns of reoccurrence of segmental dystonia after discontinuation of deep brain stimulation
-
COI: 1:STN:280:DC%2BD2s7gs1artA%3D%3D, PID: 17030588
-
Grips E, Blahak C, Capelle HH et al (2007) Patterns of reoccurrence of segmental dystonia after discontinuation of deep brain stimulation. J Neurol Neurosurg Psychiatry 78:318–320
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, pp. 318-320
-
-
Grips, E.1
Blahak, C.2
Capelle, H.H.3
-
29
-
-
84930762587
-
Deep brain stimulation suppresses pallidal low frequency activity in patients with phasic dystonic movements
-
Barow E, Neumann WJ, Brucke C et al (2014) Deep brain stimulation suppresses pallidal low frequency activity in patients with phasic dystonic movements. Brain J Neurol 137:3012–3024
-
(2014)
Brain J Neurol
, vol.137
, pp. 3012-3024
-
-
Barow, E.1
Neumann, W.J.2
Brucke, C.3
-
30
-
-
79959755301
-
Shaping reversibility? Long-term deep brain stimulation in dystonia: the relationship between effects on electrophysiology and clinical symptoms
-
Ruge D, Cif L, Limousin P et al (2011) Shaping reversibility? Long-term deep brain stimulation in dystonia: the relationship between effects on electrophysiology and clinical symptoms. Brain J Neurol 134:2106–2115
-
(2011)
Brain J Neurol
, vol.134
, pp. 2106-2115
-
-
Ruge, D.1
Cif, L.2
Limousin, P.3
|