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1
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0001473859
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Ueber eigenenartige Krampfkrankheit des kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, Dystonia Musculorum Deformans)
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Oppenheim H. Ueber eigenenartige Krampfkrankheit des kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, Dystonia Musculorum Deformans). Neurol Centrabl. 1911;30:1090.
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Neurol Centrabl
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Oppenheim, H.1
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2
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84880833855
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Translation of Oppenheim’s 1911 paper on dystonia
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C. Klein, S. Fahn 28 (2013) 851-862. This is a translation and commentary of Oppenheim’s landmark paper coining the term dystonia and most likely describing the first cases of generalized dystonia due to mutations in Tor1A (formerly DYT1) and suspecting a genetic etiology
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• C. Klein, S. Fahn, Translation of Oppenheim’s 1911 paper on dystonia, Mov Disord 28 (2013) 851-862. This is a translation and commentary of Oppenheim’s landmark paper coining the term dystonia and most likely describing the first cases of generalized dystonia due to mutations in Tor1A (formerly DYT1) and suspecting a genetic etiology.
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Mov Disord
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3
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84871807277
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The prevalence of primary dystonia: a systematic review and meta-analysis
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PID: 23114997
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Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T. The prevalence of primary dystonia: a systematic review and meta-analysis. Mov Disord. 2012;27:1789–96.
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(2012)
Mov Disord
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, pp. 1789-1796
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Steeves, T.D.1
Day, L.2
Dykeman, J.3
Jette, N.4
Pringsheim, T.5
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4
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84880772785
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Phenomenology and classification of dystonia: a consensus update
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PID: 23649720, This is an important paper that revises the definition and classification of dystonia based on a consensus outcome of an international expert panel. The new classification contains two axes: clinical characteristics and etiology. The latter one replaces the terms “primary” and “dystonia-plus” dystonia with “isolated” and “combined” dystonia, respectively
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• Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863–73. This is an important paper that revises the definition and classification of dystonia based on a consensus outcome of an international expert panel. The new classification contains two axes: clinical characteristics and etiology. The latter one replaces the terms “primary” and “dystonia-plus” dystonia with “isolated” and “combined” dystonia, respectively.
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(2013)
Mov Disord
, vol.28
, pp. 863-873
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Albanese, A.1
Bhatia, K.2
Bressman, S.B.3
Delong, M.R.4
Fahn, S.5
Fung, V.S.6
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5
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84955701039
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Late-onset primary dystonia in Zhejiang province of China: a service-based epidemiological study
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PID: 26306696
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Wang L, Chen Y, Hu B, Hu X. Late-onset primary dystonia in Zhejiang province of China: a service-based epidemiological study. Neurol Sci. 2016;37:111–6.
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Neurol Sci
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Wang, L.1
Chen, Y.2
Hu, B.3
Hu, X.4
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6
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85014879481
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Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland, Eur J Neurol
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L. Williams, E. McGovern, O. Kimmich, A. Molloy, I. Beiser, J.S. Butler, F. Molloy, P. Logan, D.G. Healy, T. Lynch, R. Walsh, L. Cassidy, P. Moriarty, H. Moore, T. McSwiney, C. Walsh, S. O’Riordan, M. Hutchinson, Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland, Eur J Neurol (2016).
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(2016)
M. Hutchinson
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Williams, L.1
McGovern, E.2
Kimmich, O.3
Molloy, A.4
Beiser, I.5
Butler, J.S.6
Molloy, F.7
Logan, P.8
Healy, D.G.9
Lynch, T.10
Walsh, R.11
Cassidy, L.12
Moriarty, P.13
Moore, H.14
McSwiney, T.15
Walsh, C.16
O’Riordan, S.17
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7
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84962198383
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Sun exposure is an environmental factor for the development of blepharospasm
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PID: 25904812
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Molloy A, Williams L, Kimmich O, Butler JS, Beiser I, McGovern E, et al. Sun exposure is an environmental factor for the development of blepharospasm. J Neurol Neurosurg Psychiatry. 2016;87:420–4.
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(2016)
J Neurol Neurosurg Psychiatry
, vol.87
, pp. 420-424
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Molloy, A.1
Williams, L.2
Kimmich, O.3
Butler, J.S.4
Beiser, I.5
McGovern, E.6
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8
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65249128525
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Etiology of musician’s dystonia: familial or environmental?
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COI: 1:STN:280:DC%2BD1M3mt1amuw%3D%3D, PID: 19349605
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Schmidt A, Jabusch HC, Altenmuller E, Hagenah J, Bruggemann N, Lohmann K, et al. Etiology of musician’s dystonia: familial or environmental? Neurology. 2009;72:1248–54.
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(2009)
Neurology
, vol.72
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Schmidt, A.1
Jabusch, H.C.2
Altenmuller, E.3
Hagenah, J.4
Bruggemann, N.5
Lohmann, K.6
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9
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84866171527
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Phenotypes and genetic architecture of focal primary torsion dystonia
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PID: 22773857
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Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, et al. Phenotypes and genetic architecture of focal primary torsion dystonia. J Neurol Neurosurg Psychiatry. 2012;83:1006–11.
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(2012)
J Neurol Neurosurg Psychiatry
, vol.83
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Groen, J.L.1
Kallen, M.C.2
van de Warrenburg, B.P.3
Speelman, J.D.4
van Hilten, J.J.5
Aramideh, M.6
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10
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84939238828
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Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm
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PID: 25395479
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van Egmond ME, Kuiper A, Eggink H, Sinke RJ, Brouwer OF, Verschuuren-Bemelmans CC, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry. 2015;86:774–81.
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(2015)
J Neurol Neurosurg Psychiatry
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van Egmond, M.E.1
Kuiper, A.2
Eggink, H.3
Sinke, R.J.4
Brouwer, O.F.5
Verschuuren-Bemelmans, C.C.6
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11
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85014918362
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Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up
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M. Zech, S. Boesch, A. Jochim, S. Weber, T. Meindl, B. Schormair, T. Wieland, C. Lunetta, V. Sansone, M. Messner, J. Mueller, A. Ceballos-Baumann, T.M. Strom, R. Colombo, W. Poewe, B. Haslinger, J. Winkelmann (2016). This is a relevant paper in two respects: first, it uses exome sequencing to detect the cause of dystonia in a small group of patients underlining the heterogeneity of dystonia. Second, it described the first de novo mutation in ANO3 providing increasing evidence for a pathogenic role of mutations in this gene
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• M. Zech, S. Boesch, A. Jochim, S. Weber, T. Meindl, B. Schormair, T. Wieland, C. Lunetta, V. Sansone, M. Messner, J. Mueller, A. Ceballos-Baumann, T.M. Strom, R. Colombo, W. Poewe, B. Haslinger, J. Winkelmann, Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up, Mov Disord (2016). This is a relevant paper in two respects: first, it uses exome sequencing to detect the cause of dystonia in a small group of patients underlining the heterogeneity of dystonia. Second, it described the first de novo mutation in ANO3 providing increasing evidence for a pathogenic role of mutations in this gene.
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Mov Disord
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12
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84963550642
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Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force
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PID: 27079681, This paper is of major importance since it suggests a new nomenclature system for genetic movement disorders based on extensive considerations and discussions among an expert panel and members of the Movement Disorder Society
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•• Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, et al. Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force. Mov Disord. 2016;31:436–57. This paper is of major importance since it suggests a new nomenclature system for genetic movement disorders based on extensive considerations and discussions among an expert panel and members of the Movement Disorder Society.
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(2016)
Mov Disord
, vol.31
, pp. 436-457
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Marras, C.1
Lang, A.2
van de Warrenburg, B.P.3
Sue, C.M.4
Tabrizi, S.J.5
Bertram, L.6
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13
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16944366666
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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
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COI: 1:CAS:528:DyaK2sXlvVCrsr0%3D, PID: 9288096
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Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997;17:40–8.
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Nat Genet
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Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
Bressman, S.B.4
Kramer, P.L.5
Shalish, C.6
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14
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84860811822
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Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples
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PID: 22454269
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Marras C, Lohmann K, Lang A, Klein C. Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. Neurology. 2012;78:1016–24.
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(2012)
Neurology
, vol.78
, pp. 1016-1024
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Marras, C.1
Lohmann, K.2
Lang, A.3
Klein, C.4
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15
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84962488952
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Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing
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COI: 1:CAS:528:DC%2BC28XmtVeitL0%3D, PID: 26991507
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Domingo A, Erro R, Lohmann K. Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing. Mov Disord. 2016;31:471–7.
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(2016)
Mov Disord
, vol.31
, pp. 471-477
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Domingo, A.1
Erro, R.2
Lohmann, K.3
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16
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61349178832
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Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
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COI: 1:CAS:528:DC%2BD1MXht1ehsrg%3D, PID: 19182804
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Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009;41:286–8.
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Nat Genet
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, pp. 286-288
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Fuchs, T.1
Gavarini, S.2
Saunders-Pullman, R.3
Raymond, D.4
Ehrlich, M.E.5
Bressman, S.B.6
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17
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84871945164
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Mutations in GNAL cause primary torsion dystonia
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COI: 1:CAS:528:DC%2BC38Xhsl2ltLrK, PID: 23222958
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Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet. 2013;45:88–92.
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Nat Genet
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Fuchs, T.1
Saunders-Pullman, R.2
Masuho, I.3
Luciano, M.S.4
Raymond, D.5
Factor, S.6
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18
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0028151448
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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
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COI: 1:CAS:528:DyaK2MXitVOgtLk%3D, PID: 7874165
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Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet. 1994;8:236–42.
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Ichinose, H.1
Ohye, T.2
Takahashi, E.3
Seki, N.4
Hori, T.5
Segawa, M.6
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19
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3242700773
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Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
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PID: 15260953
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de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, et al. Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004;43:169–75.
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Neuron
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de Carvalho Aguiar, P.1
Sweadner, K.J.2
Penniston, J.T.3
Zaremba, J.4
Liu, L.5
Caton, M.6
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20
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17944378309
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Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
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COI: 1:CAS:528:DC%2BD3MXmvFGmt7g%3D, PID: 11528394
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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;29:66–9.
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Nat Genet
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Zimprich, A.1
Grabowski, M.2
Asmus, F.3
Naumann, M.4
Berg, D.5
Bertram, M.6
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21
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84866393186
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The genetics of dystonia
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COI: 1:CAS:528:DC%2BC38XhslWktbjE, PID: 22989765
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LeDoux MS. The genetics of dystonia. Adv Genet. 2012;79:35–85.
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(2012)
Adv Genet
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LeDoux, M.S.1
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22
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0034624938
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The DYT1 phenotype and guidelines for diagnostic testing
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COI: 1:STN:280:DC%2BD3c3msVCntw%3D%3D, PID: 10802779
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Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 2000;54:1746–52.
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(2000)
Neurology
, vol.54
, pp. 1746-1752
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Bressman, S.B.1
Sabatti, C.2
Raymond, D.3
de Leon, D.4
Klein, C.5
Kramer, P.L.6
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23
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84942191658
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Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited
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PID: 26297380
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Dobricic V, Kresojevic N, Zarkovic M, Tomic A, Marjanovic A, Westenberger A, et al. Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited. Parkinsonism Relat Disord. 2015;21:1256–9.
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Parkinsonism Relat Disord
, vol.21
, pp. 1256-1259
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Dobricic, V.1
Kresojevic, N.2
Zarkovic, M.3
Tomic, A.4
Marjanovic, A.5
Westenberger, A.6
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24
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84905968361
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Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations
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COI: 1:CAS:528:DC%2BC2cXhtlynu7rM, PID: 24931141
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Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, et al. Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. Hum Mutat. 2014;35:1114–22.
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(2014)
Hum Mutat
, vol.35
, pp. 1114-1122
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Vulinovic, F.1
Lohmann, K.2
Rakovic, A.3
Capetian, P.4
Alvarez-Fischer, D.5
Schmidt, A.6
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25
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84979765542
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Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls
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PID: 27477622
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Zech M, Jochim A, Boesch S, Weber S, Meindl T, Peters A, et al. Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls. Parkinsonism Relat Disord. 2016;31:119–23.
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Parkinsonism Relat Disord
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, pp. 119-123
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Zech, M.1
Jochim, A.2
Boesch, S.3
Weber, S.4
Meindl, T.5
Peters, A.6
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26
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84905994302
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Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A
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COI: 1:CAS:528:DC%2BC2cXhtlynu7vJ, PID: 24930953
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Hettich J, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, et al. Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A. Hum Mutat. 2014;35:1101–13.
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Hum Mutat
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Hettich, J.1
Ryan, S.D.2
de Souza, O.N.3
Saraiva Macedo Timmers, L.F.4
Tsai, S.5
Atai, N.A.6
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27
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10744223557
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Mutations in DYT1: extension of the phenotypic and mutational spectrum
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COI: 1:CAS:528:DC%2BD2cXlvFWnuw%3D%3D, PID: 14872019
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Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology. 2004;62:395–400.
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Neurology
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Kabakci, K.1
Hedrich, K.2
Leung, J.C.3
Mitterer, M.4
Vieregge, P.5
Lencer, R.6
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28
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84924177907
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Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia
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Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, et al. 2015;84:895–903. This paper provides a translational aspect on the partially differential clinical outcome after deep brain stimulation in carriers of mutations in different dystonia genes
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• Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, et al. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology. 2015;84:895–903. This paper provides a translational aspect on the partially differential clinical outcome after deep brain stimulation in carriers of mutations in different dystonia genes.
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Neurology
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29
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1642433201
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Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation
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COI: 1:CAS:528:DC%2BD2cXhsVWgsr4%3D, PID: 14711988
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Goodchild RE, Dauer WT. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci USA. 2004;101:847–52.
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(2004)
Proc Natl Acad Sci USA
, vol.101
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Goodchild, R.E.1
Dauer, W.T.2
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30
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84909618559
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How lamina-associated polypeptide 1 (LAP1) activates Torsin
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B.A. Sosa, F.E. Demircioglu, J.Z. Chen, J. Ingram, H.L. Ploegh, T.U. Schwartz, How lamina-associated polypeptide 1 (LAP1) activates Torsin, Elife 3 (2014) e03239.
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(2014)
Elife
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Sosa, B.A.1
Demircioglu, F.E.2
Chen, J.Z.3
Ingram, J.4
Ploegh, H.L.5
Schwartz, T.U.6
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31
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70350463845
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Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion
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COI: 1:CAS:528:DC%2BD1MXht1Sqsb7E, PID: 19651773
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Naismith TV, Dalal S, Hanson PI. Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion. J Biol Chem. 2009;284:27866–74.
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J Biol Chem
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Naismith, T.V.1
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Hanson, P.I.3
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32
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84983681814
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Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia
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F.E. Demircioglu, B.A. Sosa, J. Ingram, H.L. Ploegh, T.U. Schwartz, Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia, Elife 5 (2016).
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(2016)
Elife
, pp. 5
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Demircioglu, F.E.1
Sosa, B.A.2
Ingram, J.3
Ploegh, H.L.4
Schwartz, T.U.5
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33
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84989849754
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Torsins are essential regulators of cellular lipid metabolism
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Grillet M, Dominguez Gonzalez B, Sicart A, Pottler M, Cascalho A, Billion K, et al. 2016;38:235–47. This is a very important study that links Torsin mutations to dysregulated cellular lipid metabolism and thus suggests a novel disease mechanism in dystonia
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•• Grillet M, Dominguez Gonzalez B, Sicart A, Pottler M, Cascalho A, Billion K, et al. Torsins are essential regulators of cellular lipid metabolism. Dev Cell. 2016;38:235–47. This is a very important study that links Torsin mutations to dysregulated cellular lipid metabolism and thus suggests a novel disease mechanism in dystonia.
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Dev Cell
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34
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85014459212
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Cerebellum, This is an important review summarizing and discussing data on the neuroanatomical site of origin of dystonia. It illustrates that the cerebellum plays a role in the pathophysiology of dystonia, but it is probably neither the primary nor sole relevant neuroanatomical structure
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• V.G. Shakkottai, A. Batla, K. Bhatia, W.T. Dauer, C. Dresel, M. Niethammer, D. Eidelberg, R.S. Raike, Y. Smith, H.A. Jinnah, E.J. Hess, S. Meunier, M. Hallett, R. Fremont, K. Khodakhah, M.S. LeDoux, T. Popa, C. Gallea, S. Lehericy, A.C. Bostan, P.L. Strick, Current opinions and areas of consensus on the role of the cerebellum in dystonia, Cerebellum (2016). This is an important review summarizing and discussing data on the neuroanatomical site of origin of dystonia. It illustrates that the cerebellum plays a role in the pathophysiology of dystonia, but it is probably neither the primary nor sole relevant neuroanatomical structure.
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(2016)
Current opinions and areas of consensus on the role of the cerebellum in dystonia
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Shakkottai, V.G.1
Batla, A.2
Bhatia, K.3
Dauer, W.T.4
Dresel, C.5
Niethammer, M.6
Eidelberg, D.7
Raike, R.S.8
Smith, Y.9
Jinnah, H.A.10
Hess, E.J.11
Meunier, S.12
Hallett, M.13
Fremont, R.14
Khodakhah, K.15
LeDoux, M.S.16
Popa, T.17
Gallea, C.18
Lehericy, S.19
Bostan, A.C.20
Strick, P.L.21
more..
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35
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84994246404
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