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Volumn 31, Issue 5, 2011, Pages 441-448

Genetics of dystonia

Author keywords

dystonia genes; dystonia plus; paroxysmal dystonia; Primary torsion dystonia

Indexed keywords

MYOFRIBILLOGENESIS REGULATOR 1; PROSTATE APOPTOSIS RESPONSE 4; PROTEIN KINASE INTERFERON INDUCIBLE DOUBLE STRANDED RNA DEPENDENT ACTIVATOR; THANATOS ASSOCIATED PROTEIN DOMAIN CONTAINING APOPTOSIS ASSOCIATED PROTEIN 1; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

EID: 84856200631     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0031-1299783     Document Type: Review
Times cited : (16)

References (91)
  • 1
  • 2
    • 0033745810 scopus 로고    scopus 로고
    • A prevalence study of primary dystonia in eight European countries
    • Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group
    • Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group. A prevalence study of primary dystonia in eight European countries. J Neurol 2000 247 10 787-792
    • (2000) J Neurol , vol.247 , Issue.10 , pp. 787-792
  • 3
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch N, de Leon D, Ozelius L et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995 9 2 152-159
    • (1995) Nat Genet , vol.9 , Issue.2 , pp. 152-159
    • Risch, N.1    De Leon, D.2    Ozelius, L.3
  • 5
    • 79952702136 scopus 로고    scopus 로고
    • Genetic and clinical features of primary torsion dystonia
    • Ozelius L J., Bressman S B. Genetic and clinical features of primary torsion dystonia. Neurobiol Dis 2011 42 2 127-135
    • (2011) Neurobiol Dis , vol.42 , Issue.2 , pp. 127-135
    • Ozelius, L.J.1    Bressman, S.B.2
  • 6
    • 56749153892 scopus 로고    scopus 로고
    • Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
    • Zirn B, Grundmann K, Huppke P et al. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J Neurol Neurosurg Psychiatry 2008 79 12 1327-1330
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , Issue.12 , pp. 1327-1330
    • Zirn, B.1    Grundmann, K.2    Huppke, P.3
  • 7
    • 77956096589 scopus 로고    scopus 로고
    • Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia
    • Calakos N, Patel V D., Gottron M et al. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. J Med Genet 2010 47 9 646-650
    • (2010) J Med Genet , vol.47 , Issue.9 , pp. 646-650
    • Calakos, N.1    Patel, V.D.2    Gottron, M.3
  • 8
    • 77953329372 scopus 로고    scopus 로고
    • The role of genes in causing dystonia
    • Schmidt A, Klein C. The role of genes in causing dystonia. Eur J Neurol 2010 17 Suppl 1 65-70
    • (2010) Eur J Neurol , vol.17 , Issue.SUPPL. 1 , pp. 65-70
    • Schmidt, A.1    Klein, C.2
  • 9
    • 0041320760 scopus 로고    scopus 로고
    • Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation
    • DOI 10.1093/brain/awg209
    • Edwards M J., Huang Y Z., Wood N W., Rothwell J C., Bhatia K P. Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. Brain 2003 126 Pt 9 2074-2080 (Pubitemid 37059447)
    • (2003) Brain , vol.126 , Issue.9 , pp. 2074-2080
    • Edwards, M.J.1    Huang, Y.-Z.2    Wood, N.W.3    Rothwell, J.C.4    Bhatia, K.P.5
  • 11
    • 33645814863 scopus 로고    scopus 로고
    • 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. et al. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet 2006 15 8 1355-1364
    • (2006) Hum Mol Genet , vol.15 , Issue.8 , pp. 1355-1364
    • Kock, N.1    Naismith, T.V.2    Boston, H.E.3
  • 12
    • 34250872219 scopus 로고    scopus 로고
    • Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
    • DOI 10.1086/518427
    • Risch N J., Bressman S B., Senthil G, Ozelius L J. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007 80 6 1188-1193 (Pubitemid 47579354)
    • (2007) American Journal of Human Genetics , vol.80 , Issue.6 , pp. 1188-1193
    • Risch, N.J.1    Bressman, S.B.2    Senthil, G.3    Ozelius, L.J.4
  • 13
    • 44949188596 scopus 로고    scopus 로고
    • Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
    • Kamm C, Fischer H, Garavaglia B et al. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 2008 70 23 2261-2262
    • (2008) Neurology , vol.70 , Issue.23 , pp. 2261-2262
    • Kamm, C.1    Fischer, H.2    Garavaglia, B.3
  • 14
    • 77953343290 scopus 로고    scopus 로고
    • The role of torsinA in dystonia
    • Granata A, Warner T T. The role of torsinA in dystonia. Eur J Neurol 2010 17 Suppl 1 81-87
    • (2010) Eur J Neurol , vol.17 , Issue.SUPPL. 1 , pp. 81-87
    • Granata, A.1    Warner, T.T.2
  • 15
    • 77953264427 scopus 로고    scopus 로고
    • TorsinA and DYT1 dystonia: A synaptopathy
    • Warner T T., Granata A, Schiavo G. TorsinA and DYT1 dystonia: a synaptopathy? Biochem Soc Trans 2010 38 2 452-456
    • (2010) Biochem Soc Trans , vol.38 , Issue.2 , pp. 452-456
    • Warner, T.T.1    Granata, A.2    Schiavo, G.3
  • 19
    • 81955164822 scopus 로고    scopus 로고
    • Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
    • In press
    • Wilcox R A., Winkler S, Lohmann K, Klein C. Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal. Mov Disord 2011 In press
    • (2011) Mov Disord
    • Wilcox, R.A.1    Winkler, S.2    Lohmann, K.3    Klein, C.4
  • 20
    • 61349178832 scopus 로고    scopus 로고
    • Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    • Fuchs T, Gavarini S, Saunders-Pullman R et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009 41 3 286-288
    • (2009) Nat Genet , vol.41 , Issue.3 , pp. 286-288
    • Fuchs, T.1    Gavarini, S.2    Saunders-Pullman, R.3
  • 21
    • 73949087195 scopus 로고    scopus 로고
    • Mutation screening of the DYT6/THAP1 gene in Italy
    • Bonetti M, Barzaghi C, Brancati F et al. Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord 2009 24 16 2424-2427
    • (2009) Mov Disord , vol.24 , Issue.16 , pp. 2424-2427
    • Bonetti, M.1    Barzaghi, C.2    Brancati, F.3
  • 22
    • 64749086402 scopus 로고    scopus 로고
    • Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: A genetic screening study
    • Djarmati A, Schneider S A., Lohmann K et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009 8 5 447-452
    • (2009) Lancet Neurol , vol.8 , Issue.5 , pp. 447-452
    • Djarmati, A.1    Schneider, S.A.2    Lohmann, K.3
  • 24
    • 73949091414 scopus 로고    scopus 로고
    • Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia
    • Paisán-Ruiz C, Ruiz-Martinez J, Ruibal M et al. Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. Mov Disord 2009 24 16 2428-2429
    • (2009) Mov Disord , vol.24 , Issue.16 , pp. 2428-2429
    • Paisán-Ruiz, C.1    Ruiz-Martinez, J.2    Ruibal, M.3
  • 25
    • 79951554515 scopus 로고    scopus 로고
    • Screening of the THAP1 gene in patients with early-onset dystonia: Myoclonic jerks are part of the dystonia 6 phenotype
    • Clot F, Grabli D, Burbaud P et al. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. Neurogenetics 2011 12 1 87-89
    • (2011) Neurogenetics , vol.12 , Issue.1 , pp. 87-89
    • Clot, F.1    Grabli, D.2    Burbaud, P.3
  • 26
    • 77958521426 scopus 로고    scopus 로고
    • DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation
    • Groen J L., Ritz K, Contarino M F. et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord 2010 25 14 2420-2427
    • (2010) Mov Disord , vol.25 , Issue.14 , pp. 2420-2427
    • Groen, J.L.1    Ritz, K.2    Contarino, M.F.3
  • 27
    • 77949372189 scopus 로고    scopus 로고
    • THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
    • Houlden H, Schneider S A., Paudel R et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010 74 10 846-850
    • (2010) Neurology , vol.74 , Issue.10 , pp. 846-850
    • Houlden, H.1    Schneider, S.A.2    Paudel, R.3
  • 28
    • 77956818930 scopus 로고    scopus 로고
    • Prevalence of THAP1 sequence variants in German patients with primary dystonia
    • Söhn A S., Glöckle N, Doetzer A D. et al. Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord 2010 25 12 1982-1986
    • (2010) Mov Disord , vol.25 , Issue.12 , pp. 1982-1986
    • Söhn, A.S.1    Glöckle, N.2    Doetzer, A.D.3
  • 29
    • 77958578230 scopus 로고    scopus 로고
    • Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
    • Zittel S, Moll C K., Brüggemann N et al. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord 2010 25 14 2405-2412
    • (2010) Mov Disord , vol.25 , Issue.14 , pp. 2405-2412
    • Zittel, S.1    Moll, C.K.2    Brüggemann, N.3
  • 30
    • 74949103804 scopus 로고    scopus 로고
    • Novel THAP1 sequence variants in primary dystonia
    • Xiao J, Zhao Y, Bastian R W. et al. Novel THAP1 sequence variants in primary dystonia. Neurology 2010 74 3 229-238
    • (2010) Neurology , vol.74 , Issue.3 , pp. 229-238
    • Xiao, J.1    Zhao, Y.2    Bastian, R.W.3
  • 31
    • 80052259998 scopus 로고    scopus 로고
    • THAP1 mutations are infrequent in spasmodic dysphonia
    • Apr
    • Groen J L., Yildirim E, Ritz K et al. THAP1 mutations are infrequent in spasmodic dysphonia. Mov Disord 2011 Apr 29
    • (2011) Mov Disord , pp. 29
    • Groen, J.L.1    Yildirim, E.2    Ritz, K.3
  • 32
    • 79961209907 scopus 로고    scopus 로고
    • Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
    • Blanchard A, Roubertie A, Simonetta-Moreau M et al. Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. Mov Disord 2011 26 9 1775-1777
    • (2011) Mov Disord , vol.26 , Issue.9 , pp. 1775-1777
    • Blanchard, A.1    Roubertie, A.2    Simonetta-Moreau, M.3
  • 34
    • 79955079909 scopus 로고    scopus 로고
    • Homozygous THAP1 mutations as cause of early-onset generalized dystonia
    • Schneider S A., Ramirez A, Shafiee K et al. Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov Disord 2011 26 5 858-861
    • (2011) Mov Disord , vol.26 , Issue.5 , pp. 858-861
    • Schneider, S.A.1    Ramirez, A.2    Shafiee, K.3
  • 35
    • 79951599929 scopus 로고    scopus 로고
    • Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China
    • Cheng F B., Wan X H., Feng J C., Wang L, Yang Y M., Cui L Y. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. Eur J Neurol 2011 18 3 497-503
    • (2011) Eur J Neurol , vol.18 , Issue.3 , pp. 497-503
    • Cheng, F.B.1    Wan, X.H.2    Feng, J.C.3    Wang, L.4    Yang, Y.M.5    Cui, L.Y.6
  • 36
    • 78650227185 scopus 로고    scopus 로고
    • Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion
    • De Carvalho Aguiar P, Fuchs T, Borges V et al. Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. Mov Disord 2010 25 16 2854-2857
    • (2010) Mov Disord , vol.25 , Issue.16 , pp. 2854-2857
    • De Carvalho Aguiar, P.1    Fuchs, T.2    Borges, V.3
  • 37
    • 78149483955 scopus 로고    scopus 로고
    • Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
    • Gavarini S, Cayrol C, Fuchs T et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol 2010 68 4 549-553
    • (2010) Ann Neurol , vol.68 , Issue.4 , pp. 549-553
    • Gavarini, S.1    Cayrol, C.2    Fuchs, T.3
  • 39
    • 0038330739 scopus 로고    scopus 로고
    • THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis- response-4 (Par-4) to PML nuclear bodies
    • DOI 10.1038/sj.onc.1206271
    • Roussigne M, Cayrol C, Clouaire T, Amalric F, Girard J P. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. Oncogene 2003 22 16 2432-2442 (Pubitemid 36564817)
    • (2003) Oncogene , vol.22 , Issue.16 , pp. 2432-2442
    • Roussigne, M.1    Cayrol, C.2    Clouaire, T.3    Amalric, F.4    Girard, J.-P.5
  • 41
    • 0032833041 scopus 로고    scopus 로고
    • Participation of prostate apoptosis response-4 in degeneration of dopaminergic neurons in models of Parkinson's disease
    • DOI 10.1002/1531-8249(199910)46:4< 587::AID-ANA6>3.0.CO;2-M
    • Duan W, Zhang Z, Gash D M., Mattson M P. Participation of prostate apoptosis response-4 in degeneration of dopaminergic neurons in models of Parkinson's disease. Ann Neurol 1999 46 4 587-597 (Pubitemid 29466437)
    • (1999) Annals of Neurology , vol.46 , Issue.4 , pp. 587-597
    • Duan, W.1    Zhang, Z.2    Gash, D.M.3    Mattson, M.P.4
  • 42
    • 78149479301 scopus 로고    scopus 로고
    • The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
    • Kaiser F J., Osmanoric A, Rakovic A et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010 68 4 554-559
    • (2010) Ann Neurol , vol.68 , Issue.4 , pp. 554-559
    • Kaiser, F.J.1    Osmanoric, A.2    Rakovic, A.3
  • 44
    • 52749087100 scopus 로고    scopus 로고
    • A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12
    • Chouery E, Kfoury J, Delague V et al. A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. Neurogenetics 2008 9 4 287-293
    • (2008) Neurogenetics , vol.9 , Issue.4 , pp. 287-293
    • Chouery, E.1    Kfoury, J.2    Delague, V.3
  • 45
    • 34249653516 scopus 로고    scopus 로고
    • Do primary adult-onset focal dystonias share aetiological factors?
    • DOI 10.1093/brain/awl355
    • Defazio G, Berardelli A, Hallett M. Do primary adult-onset focal dystonias share aetiological factors? Brain 2007 130 Pt 5 1183-1193 (Pubitemid 47355939)
    • (2007) Brain , vol.130 , Issue.5 , pp. 1183-1193
    • Defazio, G.1    Berardelli, A.2    Hallett, M.3
  • 47
    • 0029798561 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
    • Leube B, Rudnicki D, Ratzlaff T, Kessler K R., Benecke R, Auburger G. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 1996 5 10 1673-1677 (Pubitemid 26328888)
    • (1996) Human Molecular Genetics , vol.5 , Issue.10 , pp. 1673-1677
    • Leube, B.1    Rudnicki, D.2    Ratzlaff, T.3    Kessler, K.R.4    Benecke, R.5    Auburger, G.6
  • 48
    • 79959935048 scopus 로고    scopus 로고
    • A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3
    • Norgren N, Mattson E, Forsgren L, Holmberg M. A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3. Neurogenetics 2011 12 2 137-143
    • (2011) Neurogenetics , vol.12 , Issue.2 , pp. 137-143
    • Norgren, N.1    Mattson, E.2    Forsgren, L.3    Holmberg, M.4
  • 50
    • 67749110057 scopus 로고    scopus 로고
    • The monogenic primary dystonias
    • Müller U. The monogenic primary dystonias. Brain 2009 132 Pt 8 2005-2025
    • (2009) Brain , vol.132 , Issue.PART 8 , pp. 2005-2025
    • Müller, U.1
  • 51
    • 79952284144 scopus 로고    scopus 로고
    • The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, Lubag)
    • Lee L V., Rivera C, Teleg R A. et al. The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, Lubag). Int J Neurosci 2011 121 Suppl 1 3-11
    • (2011) Int J Neurosci , vol.121 , Issue.SUPPL. 1 , pp. 3-11
    • Lee, L.V.1    Rivera, C.2    Teleg, R.A.3
  • 53
    • 0036869215 scopus 로고    scopus 로고
    • Phenomenology of Lubag or X-linked dystonia-parkinsonism
    • Evidente V G., Advincula J, Esteban R et al. Phenomenology of Lubag or X-linked dystonia-parkinsonism. Mov Disord 2002 17 6 1271-1277
    • (2002) Mov Disord , vol.17 , Issue.6 , pp. 1271-1277
    • Evidente, V.G.1    Advincula, J.2    Esteban, R.3
  • 55
    • 33847183498 scopus 로고    scopus 로고
    • Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism
    • Makino S, Kaji R, Ando S et al. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet 2007 80 3 393-406
    • (2007) Am J Hum Genet , vol.80 , Issue.3 , pp. 393-406
    • Makino, S.1    Kaji, R.2    Ando, S.3
  • 56
    • 79954463100 scopus 로고    scopus 로고
    • Dopa-responsive dystonia
    • Segawa M. Dopa-responsive dystonia. Handb Clin Neurol 2011 100 539-557
    • (2011) Handb Clin Neurol , vol.100 , pp. 539-557
    • Segawa, M.1
  • 57
    • 80052767371 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
    • Arrabal L, Teresa L, Sánchez-Alcudia R et al. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. Neurogenetics 2011 12 3 183-191
    • (2011) Neurogenetics , vol.12 , Issue.3 , pp. 183-191
    • Arrabal, L.1    Teresa, L.2    Sánchez-Alcudia, R.3
  • 61
    • 67249146347 scopus 로고    scopus 로고
    • A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism
    • Blanco-Arias P, Einholm A P., Mamsa H et al. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum Mol Genet 2009 18 13 2370-2377
    • (2009) Hum Mol Genet , vol.18 , Issue.13 , pp. 2370-2377
    • Blanco-Arias, P.1    Einholm, A.P.2    Mamsa, H.3
  • 62
    • 77956197644 scopus 로고    scopus 로고
    • The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site
    • Einholm A P., Toustrup-Jensen M S., Holm R, Andersen J P., Vilsen B. The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. J Biol Chem 2010 285 34 26245-26254
    • (2010) J Biol Chem , vol.285 , Issue.34 , pp. 26245-26254
    • Einholm, A.P.1    Toustrup-Jensen, M.S.2    Holm, R.3    Andersen, J.P.4    Vilsen, B.5
  • 63
    • 33745860960 scopus 로고    scopus 로고
    • + interaction by distinct mechanisms
    • DOI 10.1074/jbc.M601780200
    • Rodacker V, Toustrup-Jensen M, Vilsen B. Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. J Biol Chem 2006 281 27 18539-18548 (Pubitemid 44035513)
    • (2006) Journal of Biological Chemistry , vol.281 , Issue.27 , pp. 18539-18548
    • Rodacker, V.1    Toustrup-Jensen, M.2    Vilsen, B.3
  • 65
    • 39149087968 scopus 로고    scopus 로고
    • DYT16, a novel young-onset dystonia-parkinsonism disorder: Identification of a segregating mutation in the stress-response protein PRKRA
    • Camargos S, Scholz S, Simn-Sánchez J et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008 7 3 207-215
    • (2008) Lancet Neurol , vol.7 , Issue.3 , pp. 207-215
    • Camargos, S.1    Scholz, S.2    Simn-Sánchez, J.3
  • 67
    • 79954477841 scopus 로고    scopus 로고
    • Myoclonus-dystonia syndrome
    • Nardocci N. Myoclonus-dystonia syndrome. Handb Clin Neurol 2011 100 563-575
    • (2011) Handb Clin Neurol , vol.100 , pp. 563-575
    • Nardocci, N.1
  • 68
    • 0025084837 scopus 로고
    • Alcohol-responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variation
    • Kyllerman M, Forsgren L, Sanner G, Holmgren G, Wahlström J, Drugge U. Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Mov Disord 1990 5 4 270-279 (Pubitemid 20373606)
    • (1990) Movement Disorders , vol.5 , Issue.4 , pp. 270-279
    • Kyllerman, M.1    Forsgren, L.2    Sanner, G.3    Holmgren, G.4    Wahlstrom, J.5    Drugge, U.6
  • 69
    • 80052294248 scopus 로고    scopus 로고
    • Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review
    • Jun
    • Peall K J., Waite A J., Blake D J., Owen M J., Morris H R. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review. Mov Disord 2011 Jun 28
    • (2011) Mov Disord , pp. 28
    • Peall, K.J.1    Waite, A.J.2    Blake, D.J.3    Owen, M.J.4    Morris, H.R.5
  • 72
    • 52649118148 scopus 로고    scopus 로고
    • Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: Paternal deletion of the epsilon-sarcoglycan (SGCE) gene
    • Bonnet C, Grgoire M J., Vibert M, Raffo E, Leheup B, Jonveaux P. Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. J Hum Genet 2008 53 10 876-885
    • (2008) J Hum Genet , vol.53 , Issue.10 , pp. 876-885
    • Bonnet, C.1    Grgoire, M.J.2    Vibert, M.3    Raffo, E.4    Leheup, B.5    Jonveaux, P.6
  • 73
    • 54049098434 scopus 로고    scopus 로고
    • Myoclonus-dystonia due to maternal uniparental disomy
    • Guettard E, Portnoi M F., Lohmann-Hedrich K et al. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 2008 65 10 1380-1385
    • (2008) Arch Neurol , vol.65 , Issue.10 , pp. 1380-1385
    • Guettard, E.1    Portnoi, M.F.2    Lohmann-Hedrich, K.3
  • 75
    • 79958729431 scopus 로고    scopus 로고
    • Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia
    • Beukers R J., Foncke E M., van der Meer J N., Veltman D J., Tijssen M A. Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia. Arch Neurol 2011 68 6 802-805
    • (2011) Arch Neurol , vol.68 , Issue.6 , pp. 802-805
    • Beukers, R.J.1    Foncke, E.M.2    Van Der Meer, J.N.3    Veltman, D.J.4    Tijssen, M.A.5
  • 77
    • 34249100202 scopus 로고    scopus 로고
    • Refinement of the DYT15 locus in myoclonus dystonia
    • DOI 10.1002/mds.21400
    • Han F, Racacho L, Lang A E., Bulman D E., Grimes D A. Refinement of the DYT15 locus in myoclonus dystonia. Mov Disord 2007 22 6 888-892 (Pubitemid 46800118)
    • (2007) Movement Disorders , vol.22 , Issue.6 , pp. 888-892
    • Han, F.1    Racacho, L.2    Lang, A.E.3    Bulman, D.E.4    Grimes, D.A.5
  • 83
    • 61849106125 scopus 로고    scopus 로고
    • Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
    • Ghezzi D, Viscomi C, Ferlini A et al. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet 2009 18 6 1058-1064
    • (2009) Hum Mol Genet , vol.18 , Issue.6 , pp. 1058-1064
    • Ghezzi, D.1    Viscomi, C.2    Ferlini, A.3
  • 88
    • 69949186743 scopus 로고    scopus 로고
    • GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias
    • Schneider S A., Paisan-Ruiz C, Garcia-Gorostiaga I et al. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 2009 24 11 1684-1688
    • (2009) Mov Disord , vol.24 , Issue.11 , pp. 1684-1688
    • Schneider, S.A.1    Paisan-Ruiz, C.2    Garcia-Gorostiaga, I.3
  • 89
    • 79955693896 scopus 로고    scopus 로고
    • Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
    • Roubergue A, Apartis E, Mesnage V et al. Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. J Inherit Metab Dis 2011 34 2 483-488
    • (2011) J Inherit Metab Dis , vol.34 , Issue.2 , pp. 483-488
    • Roubergue, A.1    Apartis, E.2    Mesnage, V.3
  • 90
    • 80054888031 scopus 로고    scopus 로고
    • Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect
    • Weber Y G., Kamm C, Suls A et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011 77 10 959-964
    • (2011) Neurology , vol.77 , Issue.10 , pp. 959-964
    • Weber, Y.G.1    Kamm, C.2    Suls, A.3
  • 91
    • 79953825909 scopus 로고    scopus 로고
    • Revisiting Mendelian disorders through exome sequencing
    • Ku C S., Naidoo N, Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum Genet 2011 129 4 351-370
    • (2011) Hum Genet , vol.129 , Issue.4 , pp. 351-370
    • Ku, C.S.1    Naidoo, N.2    Pawitan, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.