메뉴 건너뛰기




Volumn 3, Issue 1, 2008, Pages 61-72

TorsinA and DYT1 early-onset dystonia

Author keywords

Human genetics; Inherited neurologic disease; Movement disorder

Indexed keywords

CELL PROTEIN; CHAPERONE; GAG PROTEIN; LEVODOPA; PROTEIN AAA; PROTEIN DYT1; PROTEIN TORSINA; UNCLASSIFIED DRUG;

EID: 37649008757     PISSN: 14796708     EISSN: None     Source Type: Journal    
DOI: 10.2217/14796708.3.1.61     Document Type: Review
Times cited : (3)

References (123)
  • 3
    • 34447333672 scopus 로고    scopus 로고
    • Genetic evaluation in primary dystonia
    • Stacy M Ed, Taylor and Francis Group, NY, USA
    • Klein C, Ozelius LJ, Breakefield XO: Genetic evaluation in primary dystonia. In: Handbook of Dystonia. Stacy M (Ed.). Taylor and Francis Group, NY, USA 21-44 (2007).
    • (2007) Handbook of Dystonia , pp. 21-44
    • Klein, C.1    Ozelius, L.J.2    Breakefield, X.O.3
  • 4
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius LJ, Hewett JW, Page CE et al.: The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 17, 40-48 (1997).
    • (1997) Nat. Genet , vol.17 , pp. 40-48
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.E.3
  • 6
    • 0347994919 scopus 로고    scopus 로고
    • Aurosomal recessive, DYT2-like primary torsion dystonia: A new family
    • Khan NL, Wood NW, Bhatia KP: Aurosomal recessive, DYT2-like primary torsion dystonia: a new family. Neurology 61, 1801-1803 (2003).
    • (2003) Neurology , vol.61 , pp. 1801-1803
    • Khan, N.L.1    Wood, N.W.2    Bhatia, K.P.3
  • 7
  • 9
    • 0030868892 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
    • Almasy L, Bressman SB, Raymond D et al.: Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann. Neurol. 42, 670-673 (1997).
    • (1997) Ann. Neurol , vol.42 , pp. 670-673
    • Almasy, L.1    Bressman, S.B.2    Raymond, D.3
  • 10
    • 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 KR, 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. 5, 1673-1677 (1996).
    • (1996) Hum. Mol. Genet , vol.5 , pp. 1673-1677
    • Leube, B.1    Rudnicki, D.2    Ratzlaff, T.3    Kessler, K.R.4    Benecke, R.5    Auburger, G.6
  • 11
    • 0035091598 scopus 로고    scopus 로고
    • DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset
    • Valente EM, Bentivoglio AR, Cassetta E et al.: DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset. Ann. Neurol. 49, 362-366 (2001).
    • (2001) Ann. Neurol , vol.49 , pp. 362-366
    • Valente, E.M.1    Bentivoglio, A.R.2    Cassetta, E.3
  • 12
    • 0016913614 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H: Hereditary progressive dystonia with marked diurnal fluctuation. Adv. Neurol. 14, 215-233 (1976).
    • (1976) Adv. Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3    Nomura, Y.4    Imai, H.5
  • 13
    • 27644437164 scopus 로고    scopus 로고
    • 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. 58, 792-797 (2005).
    • (2005) Ann. Neurol , vol.58 , pp. 792-797
    • Asmus, F.1    Salih, F.2    Hjermind, L.E.3
  • 14
  • 15
    • 3142721995 scopus 로고    scopus 로고
    • Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
    • Rainier S, Thomas D, Tokarz D et al.: Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch. Neurol. 61, 1025-1029 (2004).
    • (2004) Arch. Neurol , vol.61 , pp. 1025-1029
    • Rainier, S.1    Thomas, D.2    Tokarz, D.3
  • 16
    • 19944407549 scopus 로고    scopus 로고
    • The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
    • Lee HY, Xu Y, Huang Y et al.: The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum. Mol. Genet. 13, 3161-3170 (2004).
    • (2004) Hum. Mol. Genet , vol.13 , pp. 3161-3170
    • Lee, H.Y.1    Xu, Y.2    Huang, Y.3
  • 17
    • 0028950638 scopus 로고
    • Spread of symptoms in idiopathic torsion dystonia
    • Greene P, Kang UJ, Fahn S: Spread of symptoms in idiopathic torsion dystonia. Mov. Disord. 10, 143-152 (1995).
    • (1995) Mov. Disord , vol.10 , pp. 143-152
    • Greene, P.1    Kang, U.J.2    Fahn, S.3
  • 18
    • 0034624938 scopus 로고    scopus 로고
    • The DYT1 phenotype and guidelines for diagnostic testing
    • Bressman SB, Sabatti C, Raymond D et al.: The DYT1 phenotype and guidelines for diagnostic testing. Neurology 54, 1746-1752 (2000).
    • (2000) Neurology , vol.54 , pp. 1746-1752
    • Bressman, S.B.1    Sabatti, C.2    Raymond, D.3
  • 19
    • 0033544373 scopus 로고    scopus 로고
    • Sex-related influences on the frequency and age of onset of primary dystonia
    • ESDE Collaborative Group
    • ESDE Collaborative Group: Sex-related influences on the frequency and age of onset of primary dystonia. Neurology 53, 1871-1873 (1999).
    • (1999) Neurology , vol.53 , pp. 1871-1873
  • 20
    • 0032823454 scopus 로고    scopus 로고
    • Risk factors for spread of primary adult onset blepharospasm: A multicentre investigation of the Italian movement disorders study group
    • Defazio G, Berardelli A, Abbruzzese G et al.: Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group. J. Neurol. Neurosurg. Psychiatry 67, 613-619 (1999).
    • (1999) J. Neurol. Neurosurg. Psychiatry , vol.67 , pp. 613-619
    • Defazio, G.1    Berardelli, A.2    Abbruzzese, G.3
  • 21
    • 0025231471 scopus 로고
    • Natural history of adult-onset idiopathic torticollis
    • Jahanshahi M, Marion MH, Marsden CD: Natural history of adult-onset idiopathic torticollis. Arch. Neurol. 47, 548-552 (1990).
    • (1990) Arch. Neurol , vol.47 , pp. 548-552
    • Jahanshahi, M.1    Marion, M.H.2    Marsden, C.D.3
  • 23
    • 0037167549 scopus 로고    scopus 로고
    • The prevalence of primary dystonia in the general community
    • Muller J, Kiechl S, Wenning GK et al.: The prevalence of primary dystonia in the general community. Neurology 59, 941-943 (2002).
    • (2002) Neurology , vol.59 , pp. 941-943
    • Muller, J.1    Kiechl, S.2    Wenning, G.K.3
  • 24
    • 0025349857 scopus 로고
    • Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance
    • Risch NJ, Bressman SB, de Leon D et al.: Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am. J. Hum. Genet. 46, 533-538 (1990).
    • (1990) Am. J. Hum. Genet , vol.46 , pp. 533-538
    • Risch, N.J.1    Bressman, S.B.2    de Leon, D.3
  • 25
    • 7144256520 scopus 로고    scopus 로고
    • De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia
    • Klein C, Brin MF, de Leon D et al.: De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum. Mol. Genet. 7, 1133-1136 (1998).
    • (1998) Hum. Mol. Genet , vol.7 , pp. 1133-1136
    • Klein, C.1    Brin, M.F.2    de Leon, D.3
  • 26
    • 0038123157 scopus 로고    scopus 로고
    • Impaired sequence learning in carriers of the DYT1 dystonia mutation
    • Ghilardi MF, Carbon M, Silvestri G et al.: Impaired sequence learning in carriers of the DYT1 dystonia mutation. Ann. Neurol. 54, 102-109 (2003).
    • (2003) Ann. Neurol , vol.54 , pp. 102-109
    • Ghilardi, M.F.1    Carbon, M.2    Silvestri, G.3
  • 27
    • 3843067672 scopus 로고    scopus 로고
    • Microstructural white marter changes in carriers of the DYT1 gene mutation
    • Carbon M, Kingsley PB, Su S et al.: Microstructural white marter changes in carriers of the DYT1 gene mutation. Ann. Neurol. 56, 283-286 (2004).
    • (2004) Ann. Neurol , vol.56 , pp. 283-286
    • Carbon, M.1    Kingsley, P.B.2    Su, S.3
  • 28
    • 12544260182 scopus 로고    scopus 로고
    • Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation
    • Asanuma K, Ma Y, Okulski J et al.: Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology 64, 347-349 (2005).
    • (2005) Neurology , vol.64 , pp. 347-349
    • Asanuma, K.1    Ma, Y.2    Okulski, J.3
  • 29
    • 0031716770 scopus 로고    scopus 로고
    • Functional brain networks in DYT1 dystonia
    • Eidelberg D, Moeller JR, Antonini A et al.: Functional brain networks in DYT1 dystonia. Ann. Neurol. 44, 303-312 (1998).
    • (1998) Ann. Neurol , vol.44 , pp. 303-312
    • Eidelberg, D.1    Moeller, J.R.2    Antonini, A.3
  • 30
    • 0023673622 scopus 로고
    • Primary dystonias: A review of the pathology and suggestions for new directions of study
    • Hedreen JC, Zweig RM, DeLong MR, Whitehouse PJ, Price DL: Primary dystonias: a review of the pathology and suggestions for new directions of study. Adv. Neurol. 50, 123-132 (1988).
    • (1988) Adv. Neurol , vol.50 , pp. 123-132
    • Hedreen, J.C.1    Zweig, R.M.2    DeLong, M.R.3    Whitehouse, P.J.4    Price, D.L.5
  • 31
    • 0037329443 scopus 로고    scopus 로고
    • TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
    • Rostasy K, Augood SJ, Hewett JW et al.: TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol. Dis. 12, 11-24 (2003).
    • (2003) Neurobiol. Dis , vol.12 , pp. 11-24
    • Rostasy, K.1    Augood, S.J.2    Hewett, J.W.3
  • 32
    • 4844225770 scopus 로고    scopus 로고
    • Brainstem pathology in DYT1 primary torsion dystonia
    • McNaught KS, Kapustin A, Jackson T et al.: Brainstem pathology in DYT1 primary torsion dystonia. Ann. Neurol. 56, 540-547 (2004).
    • (2004) Ann. Neurol , vol.56 , pp. 540-547
    • McNaught, K.S.1    Kapustin, A.2    Jackson, T.3
  • 33
    • 34249653516 scopus 로고    scopus 로고
    • Do primary adult-onset focal dystonias share aetiological factors?
    • Defazio G, Berardelli A, Hallett M: Do primary adult-onset focal dystonias share aetiological factors? Brain 130, 1183-1193 (2007).
    • (2007) Brain , vol.130 , pp. 1183-1193
    • Defazio, G.1    Berardelli, A.2    Hallett, M.3
  • 35
    • 0031878303 scopus 로고    scopus 로고
    • Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset
    • Gasser T, Windgassen K, Bereznai B, Kabus C, Ludolph AC: Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. Ann. Neurol. 44, 126-128 (1998).
    • (1998) Ann. Neurol , vol.44 , pp. 126-128
    • Gasser, T.1    Windgassen, K.2    Bereznai, B.3    Kabus, C.4    Ludolph, A.C.5
  • 36
    • 0036523711 scopus 로고    scopus 로고
    • Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
    • Opal P, Tintner R, Jankovic J et al.: Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov. Disord. 17, 339-345 (2002).
    • (2002) Mov. Disord , vol.17 , pp. 339-345
    • Opal, P.1    Tintner, R.2    Jankovic, J.3
  • 37
    • 0032825414 scopus 로고    scopus 로고
    • A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation
    • Ikeuchi T, Shimohata T, Nakano R, Koide R, Takano H, Tsuji S: A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. Neurogenetics 2, 189-190 (1999).
    • (1999) Neurogenetics , vol.2 , pp. 189-190
    • Ikeuchi, T.1    Shimohata, T.2    Nakano, R.3    Koide, R.4    Takano, H.5    Tsuji, S.6
  • 38
    • 0032895322 scopus 로고    scopus 로고
    • Phenotypic variability of the DYT1 mutation in German dystonia patients
    • Leube B, Kessler KR, Ferbert A et al.: Phenotypic variability of the DYT1 mutation in German dystonia patients. Acta Neurol. Scand. 99, 248-251 (1999).
    • (1999) Acta Neurol. Scand , vol.99 , pp. 248-251
    • Leube, B.1    Kessler, K.R.2    Ferbert, A.3
  • 39
    • 0037746661 scopus 로고    scopus 로고
    • Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
    • Edwards M, Wood N, Bhatia K: Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov. Disorder. 18, 706-711 (2003).
    • (2003) Mov. Disorder , vol.18 , pp. 706-711
    • Edwards, M.1    Wood, N.2    Bhatia, K.3
  • 40
    • 3042838149 scopus 로고    scopus 로고
    • Writer's cramp in an Australian pedigree with DYT1 dystonia
    • Van Den Bos M, Marotta R, Goldup S et al.: Writer's cramp in an Australian pedigree with DYT1 dystonia. J. Clin. Neurosci. 11, 537-539 (2004).
    • (2004) J. Clin. Neurosci , vol.11 , pp. 537-539
    • Van Den Bos, M.1    Marotta, R.2    Goldup, S.3
  • 41
    • 33750993730 scopus 로고    scopus 로고
    • Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia
    • Gambarin M, Valente EM, Liberini P et al.: Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. Mov. Disord. 21, 1782-1784 (2006).
    • (2006) Mov. Disord , vol.21 , pp. 1782-1784
    • Gambarin, M.1    Valente, E.M.2    Liberini, P.3
  • 42
    • 0033572356 scopus 로고    scopus 로고
    • The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
    • Ozelius LJ, Page CE, Klein C et al.: The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 62, 377-384 (1999).
    • (1999) Genomics , vol.62 , pp. 377-384
    • Ozelius, L.J.1    Page, C.E.2    Klein, C.3
  • 43
    • 0036193086 scopus 로고    scopus 로고
    • Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins
    • Dron M, Meritet JF, Dandoy-Dron F, Meyniel JP, Maury C, Tovey MG: Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins. Genomics 79, 315-325 (2002).
    • (2002) Genomics , vol.79 , pp. 315-325
    • Dron, M.1    Meritet, J.F.2    Dandoy-Dron, F.3    Meyniel, J.P.4    Maury, C.5    Tovey, M.G.6
  • 44
    • 0035202870 scopus 로고    scopus 로고
    • The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily
    • Basham SE, Rose LS: The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily. Development 128, 4645-4656 (2001).
    • (2001) Development , vol.128 , pp. 4645-4656
    • Basham, S.E.1    Rose, L.S.2
  • 45
    • 0037319121 scopus 로고    scopus 로고
    • Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins
    • Caldwell GA, Cao S, Sexton EG, Gelwix CC, Bevel JP, Caldwell KA: Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins. Hum. Mol. Genet. 12, 307-319 (2003).
    • (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
  • 46
    • 17644392138 scopus 로고    scopus 로고
    • Torsin-modiated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans
    • Cao S, Gelwix CC, Caldwell KA, Caldwell GA: Torsin-modiated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans. J. Neurosci. 25, 3801-3812 (2005).
    • (2005) J. Neurosci , vol.25 , pp. 3801-3812
    • Cao, S.1    Gelwix, C.C.2    Caldwell, K.A.3    Caldwell, G.A.4
  • 47
    • 5744240629 scopus 로고    scopus 로고
    • A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling
    • Koh YH, Rehfeld K, Ganetzky B: A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling. Hum. Mol. Genet. 13, 2019-2030 (2004).
    • (2004) Hum. Mol. Genet , vol.13 , pp. 2019-2030
    • Koh, Y.H.1    Rehfeld, K.2    Ganetzky, B.3
  • 48
    • 33750818947 scopus 로고    scopus 로고
    • Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration
    • Muraro NI, Moffat KG: Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration. J. Neurobiol. 66, 1338-1353 (2006).
    • (2006) J. Neurobiol , vol.66 , pp. 1338-1353
    • Muraro, N.I.1    Moffat, K.G.2
  • 50
    • 0032969563 scopus 로고    scopus 로고
    • +: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes
    • +: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genomic Res. 9, 27-43 (1999).
    • (1999) Genomic Res , vol.9 , pp. 27-43
    • Neuwald, A.F.1    Aravind, L.2    Spouge, J.L.3    Koonin, E.V.4
  • 51
    • 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 TV, Boston HE et al.: Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum. Mol. Genet. 15, 1355-1364 (2006).
    • (2006) Hum. Mol. Genet , vol.15 , pp. 1355-1364
    • Kock, N.1    Naismith, T.V.2    Boston, H.E.3
  • 53
    • 0034632063 scopus 로고    scopus 로고
    • AAA proteins. Lords of the ring
    • Vale RD: AAA proteins. Lords of the ring. J. Cell Biol. 150, F13-F19 (2000).
    • (2000) J. Cell Biol , vol.150
    • Vale, R.D.1
  • 54
    • 0034702033 scopus 로고    scopus 로고
    • 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, 1403-1413 (2000).
    • (2000) Hum. Mol. Genet , vol.9 , pp. 1403-1413
    • Hewett, J.1    Gonzalez-Agosti, C.2    Slater, D.3
  • 55
    • 0034623158 scopus 로고    scopus 로고
    • TorsinA and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations
    • Kustedjo K, Bracey MH, Cravatt BF: TorsinA and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. J. Biol. Chem. 275, 680-685 (2000).
    • (2000) J. Biol. Chem , vol.275 , pp. 680-685
    • Kustedjo, K.1    Bracey, M.H.2    Cravatt, B.F.3
  • 56
    • 8144230422 scopus 로고    scopus 로고
    • Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-torsinA mutant
    • Torres GE, Sweeney AL, Beaulieu JM, Shashidharan P, Caron MG: 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. USA 101, 15650-15655 (2004).
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 15650-15655
    • Torres, G.E.1    Sweeney, A.L.2    Beaulieu, J.M.3    Shashidharan, P.4    Caron, M.G.5
  • 57
    • 34249850241 scopus 로고    scopus 로고
    • Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
    • Hewett JW, Tannous B, Niland BP et al.: Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. Proc. Natl Acad. Sci USA 104, 7271-7276 (2007).
    • (2007) Proc. Natl Acad. Sci USA , vol.104 , pp. 7271-7276
    • Hewett, J.W.1    Tannous, B.2    Niland, B.P.3
  • 58
    • 33645154135 scopus 로고    scopus 로고
    • Cellular response to endoplasmic reticulum stress: A matter of life or death
    • Boyce M, Yuan J: Cellular response to endoplasmic reticulum stress: a matter of life or death. Cell Death Differ. 13, 363-373 (2006).
    • (2006) Cell Death Differ , vol.13 , pp. 363-373
    • Boyce, M.1    Yuan, J.2
  • 59
    • 33644858343 scopus 로고    scopus 로고
    • The unfolded protein response: A stress signaling pathway critical for health and disease
    • Zhang K, Kaufman RJ: The unfolded protein response: a stress signaling pathway critical for health and disease. Neurology 66, S102-S109 (2006).
    • (2006) Neurology , vol.66
    • Zhang, K.1    Kaufman, R.J.2
  • 60
    • 0036846119 scopus 로고    scopus 로고
    • TorsinA and heat shock proteins act as molecular chaperones: Suppression of α-synuclein aggregation
    • McLean PJ, Kawamata H, Shariff S et al.: TorsinA and heat shock proteins act as molecular chaperones: suppression of α-synuclein aggregation. J. Neurochem. 83, 846-854 (2002).
    • (2002) J. Neurochem , vol.83 , pp. 846-854
    • McLean, P.J.1    Kawamata, H.2    Shariff, S.3
  • 61
    • 0141448740 scopus 로고    scopus 로고
    • TorsinA protects against oxidative stress in COS-1 and PC12 cells
    • Kuner R, Teismann P, Trutzel A et al.: TorsinA protects against oxidative stress in COS-1 and PC12 cells. Neurosci. Lett. 350, 153-156 (2003).
    • (2003) Neurosci. Lett , vol.350 , pp. 153-156
    • Kuner, R.1    Teismann, P.2    Trutzel, A.3
  • 62
    • 0037445915 scopus 로고    scopus 로고
    • TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress
    • Hewett J, Ziefer P, Bergeron D et al.: TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J. Neurosci. Res. 72, 158-168 (2003).
    • (2003) J. Neurosci. Res , vol.72 , pp. 158-168
    • Hewett, J.1    Ziefer, P.2    Bergeron, D.3
  • 63
    • 1042289634 scopus 로고    scopus 로고
    • Overexpression of torsinA in PC12 cells protects against toxicity
    • Shashidharan P, Paris N, Sandu D et al.: Overexpression of torsinA in PC12 cells protects against toxicity. J. Neurochem. 88, 1019-1025 (2004).
    • (2004) J. Neurochem , vol.88 , pp. 1019-1025
    • Shashidharan, P.1    Paris, N.2    Sandu, D.3
  • 65
    • 1642433201 scopus 로고    scopus 로고
    • Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
    • Goodchild RE, Dauer WT: Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc. Natl Acad. Sci. USA 101, 847-852 (2004).
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 847-852
    • Goodchild, R.E.1    Dauer, W.T.2
  • 66
    • 1642290757 scopus 로고    scopus 로고
    • Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
    • Gonzalez-Agosti P, Paulson HL: Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J. Neurosci. 24, 2593-2601 (2004).
    • (2004) J. Neurosci , vol.24 , pp. 2593-2601
    • Gonzalez-Agosti, P.1    Paulson, H.L.2
  • 67
    • 2442548666 scopus 로고    scopus 로고
    • The early onset dystonia protein torsinA interacts with kinesin light chain 1
    • Kamm C, Boston H, Hewett J et al.: The early onset dystonia protein torsinA interacts with kinesin light chain 1. J. Biol. Chem. 279, 19882-19892 (2004).
    • (2004) J. Biol. Chem , vol.279 , pp. 19882-19892
    • Kamm, C.1    Boston, H.2    Hewett, J.3
  • 68
    • 29144460260 scopus 로고    scopus 로고
    • Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope
    • Goodchild RE, Kim CE, Dauer WT: Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 48, 923-932 (2005).
    • (2005) Neuron , vol.48 , pp. 923-932
    • Goodchild, R.E.1    Kim, C.E.2    Dauer, W.T.3
  • 70
    • 3343026533 scopus 로고    scopus 로고
    • Developmental expression of rat torsinA transcript and protein
    • Xiao J, Gong S, Zhao Y, LeDoux MS: Developmental expression of rat torsinA transcript and protein. Brain Res. Dev. Brain Res. 152, 47-60 (2004).
    • (2004) Brain Res. Dev. Brain Res , vol.152 , pp. 47-60
    • Xiao, J.1    Gong, S.2    Zhao, Y.3    LeDoux, M.S.4
  • 71
    • 33644963223 scopus 로고    scopus 로고
    • Vasudevan A, Breakefield XO, Bhide P: Developmental patterns of torsinA and torsinB expression. Brain Res. 1073-1074, 139-145 (2006).
    • Vasudevan A, Breakefield XO, Bhide P: Developmental patterns of torsinA and torsinB expression. Brain Res. 1073-1074, 139-145 (2006).
  • 72
    • 27744567561 scopus 로고    scopus 로고
    • Generation and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystonia
    • Dang MT, Yokoi F, McNaught KS et al.: Generation and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystonia. Exp. Neurol. 196, 452-463 (2005).
    • (2005) Exp. Neurol , vol.196 , pp. 452-463
    • Dang, M.T.1    Yokoi, F.2    McNaught, K.S.3
  • 73
    • 0142026884 scopus 로고    scopus 로고
    • Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain
    • Augood SJ, Keller-McGandy CE, Siriani A et al.: Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain. Brain Res. 986, 12-21 (2003).
    • (2003) Brain Res , vol.986 , pp. 12-21
    • Augood, S.J.1    Keller-McGandy, C.E.2    Siriani, A.3
  • 74
    • 0033987354 scopus 로고    scopus 로고
    • Immunohistochemical localization and distribution of torsinA in normal human and rat brain
    • Shashidharan P, Kramer BC, Walker RH, Olanow CW, Brin MF: Immunohistochemical localization and distribution of torsinA in normal human and rat brain. Brain Res. 853, 197-206 (2000).
    • (2000) Brain Res , vol.853 , pp. 197-206
    • Shashidharan, P.1    Kramer, B.C.2    Walker, R.H.3    Olanow, C.W.4    Brin, M.F.5
  • 77
    • 33751019482 scopus 로고    scopus 로고
    • Motor deficits and hyperactivity in DYT1 knockdown mice
    • Dang MT, Yokoi F, Pence MA, Li Y: Motor deficits and hyperactivity in DYT1 knockdown mice. Neurosci. Res. 56, 470-474 (2006).
    • (2006) Neurosci. Res , vol.56 , pp. 470-474
    • Dang, M.T.1    Yokoi, F.2    Pence, M.A.3    Li, Y.4
  • 78
    • 18044403431 scopus 로고    scopus 로고
    • Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    • Leung JC, Klein C, Friedman J et al.: Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 3, 133-143 (2001).
    • (2001) Neurogenetics , vol.3 , pp. 133-143
    • Leung, J.C.1    Klein, C.2    Friedman, J.3
  • 79
    • 10744223557 scopus 로고    scopus 로고
    • Mutations in DYT1: Extension of the phenotypic and mutational spectrum
    • Kabakci K, Hedrich K, Leung JC et al.: Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 62, 395-400 (2004).
    • (2004) Neurology , vol.62 , pp. 395-400
    • Kabakci, K.1    Hedrich, K.2    Leung, J.C.3
  • 80
    • 0037039217 scopus 로고    scopus 로고
    • TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia
    • Walker RH, Brin MF, Sandu D, Good PF, Shashidharan P: TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia. Neurology 58, 120-124 (2002).
    • (2002) Neurology , vol.58 , pp. 120-124
    • Walker, R.H.1    Brin, M.F.2    Sandu, D.3    Good, P.F.4    Shashidharan, P.5
  • 81
    • 33645078104 scopus 로고    scopus 로고
    • Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
    • Hewett JW, Zeng J, Niland BP, Bragg DC, Breakefield XO: Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol. Dis. 22, 98-111 (2006).
    • (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
  • 82
    • 20344404225 scopus 로고    scopus 로고
    • 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 MR, Taanman JW 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, 432-440 (2005).
    • (2005) Mov. Disord , vol.20 , pp. 432-440
    • Misbahuddin, A.1    Placzek, M.R.2    Taanman, J.W.3
  • 83
    • 19944429223 scopus 로고    scopus 로고
    • 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, 125-133 (2005).
    • (2005) Hum. Mol. Genet , vol.14 , pp. 125-133
    • Shashidharan, P.1    Sandu, D.2    Potla, U.3
  • 84
    • 34447641630 scopus 로고    scopus 로고
    • Overexpression of human wildtype torsiaA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
    • Grundmann K, Reischmann B, Vanhoutte G et al.: Overexpression of human wildtype torsiaA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol. Dis. 27, 190-206 (2007).
    • (2007) Neurobiol. Dis , vol.27 , pp. 190-206
    • Grundmann, K.1    Reischmann, B.2    Vanhoutte, G.3
  • 85
    • 20044374519 scopus 로고    scopus 로고
    • Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation
    • Sharma N, Baxter MG, Petravicz J et al.: Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J. Neurosci. 25, 5351-5355 (2005).
    • (2005) J. Neurosci , vol.25 , pp. 5351-5355
    • Sharma, N.1    Baxter, M.G.2    Petravicz, J.3
  • 86
    • 33749984203 scopus 로고    scopus 로고
    • 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, 318-325 (2006).
    • (2006) Neurobiol. Dis , vol.24 , pp. 318-325
    • Pisani, A.1    Martella, G.2    Tscherter, A.3
  • 88
    • 34250872219 scopus 로고    scopus 로고
    • Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia
    • Risch N, Bressman S, Senthil G, Ozelius L: Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am. J. Hum. Genet. 80, 1188-1193 (2007).
    • (2007) Am. J. Hum. Genet , vol.80 , pp. 1188-1193
    • Risch, N.1    Bressman, S.2    Senthil, G.3    Ozelius, L.4
  • 89
    • 0037159182 scopus 로고    scopus 로고
    • Clinical findings of a myodonus-dystonia family with two distinct mutations
    • Doherty D, Danisi F, Smith C et al.: Clinical findings of a myodonus-dystonia family with two distinct mutations. Neurology 59, 1244-1246 (2002).
    • (2002) Neurology , vol.59 , pp. 1244-1246
    • Doherty, D.1    Danisi, F.2    Smith, C.3
  • 90
    • 17944378309 scopus 로고    scopus 로고
    • Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
    • Zimprich A, Grabowski M, Asmus F et al.: Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome. Nat. Genet. 29, 66-69 (2001).
    • (2001) Nat. Genet , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3
  • 91
    • 1842507639 scopus 로고    scopus 로고
    • The law of mass action applied to neurodegenerative disease: A hypothesis concerning the etiology and pathogenesis of complex diseases
    • Singleton A, Myers A, Hardy J: The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. Hum. Mol. Genet. 13, R123-R126 (2004).
    • (2004) Hum. Mol. Genet , vol.13
    • Singleton, A.1    Myers, A.2    Hardy, J.3
  • 92
    • 0034837775 scopus 로고    scopus 로고
    • Olson JM, Goddard KA, Dudek DM: The amyloid precursor protein locus and very-late-onset Alzheimer disease. Am. J. Hum. Genet. 69, 895-899 (2001).
    • Olson JM, Goddard KA, Dudek DM: The amyloid precursor protein locus and very-late-onset Alzheimer disease. Am. J. Hum. Genet. 69, 895-899 (2001).
  • 93
    • 20144387092 scopus 로고    scopus 로고
    • Multiple regions of α-synuclein are associated with Parkinson's disease
    • Mueller JC, Fuchs J, Hofer A et al.: Multiple regions of α-synuclein are associated with Parkinson's disease. Ann. Neurol. 57, 535-541 (2005).
    • (2005) Ann. Neurol , vol.57 , pp. 535-541
    • Mueller, J.C.1    Fuchs, J.2    Hofer, A.3
  • 94
    • 0035209184 scopus 로고    scopus 로고
    • Sporadic - but not variant - Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1
    • Mead S, Mahal SP, Beck J et al.: Sporadic - but not variant - Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am. J. Hum. Genet. 69, 1225-1235 (2001).
    • (2001) Am. J. Hum. Genet , vol.69 , pp. 1225-1235
    • Mead, S.1    Mahal, S.P.2    Beck, J.3
  • 95
    • 18244406025 scopus 로고    scopus 로고
    • 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, 765-767 (2005).
    • (2005) Ann. Neurol , vol.57 , pp. 765-767
    • Clarimon, J.1    Asgeirsson, H.2    Singleton, A.3
  • 96
    • 33845398122 scopus 로고    scopus 로고
    • Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
    • Kamm C, Asmus F, Muller J et al.: Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 67, 1857-1859 (2006).
    • (2006) Neurology , vol.67 , pp. 1857-1859
    • Kamm, C.1    Asmus, F.2    Muller, J.3
  • 97
    • 33645827756 scopus 로고    scopus 로고
    • 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, 951-952 (2006).
    • (2006) Neurology , vol.66 , pp. 951-952
    • Hague, S.1    Klaffke, S.2    Clarimon, J.3
  • 98
    • 33847762857 scopus 로고    scopus 로고
    • 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, 162-166 (2007).
    • (2007) Mov. Disord , vol.22 , pp. 162-166
    • Clarimon, J.1    Brancati, F.2    Peckham, E.3
  • 99
    • 0344896723 scopus 로고    scopus 로고
    • Candidate gene studies in focal dystonia
    • Sibbing D, Asmus F, Konig IR et al.: Candidate gene studies in focal dystonia. Neurology 61, 1097-1101 (2003).
    • (2003) Neurology , vol.61 , pp. 1097-1101
    • Sibbing, D.1    Asmus, F.2    Konig, I.R.3
  • 100
    • 0031797115 scopus 로고    scopus 로고
    • The role of DYT1 in primary torsion dystonia in Europe
    • Valente EM, Warner TT, Jarman PR et al.: The role of DYT1 in primary torsion dystonia in Europe. Brain 121, 2335-2339 (1998).
    • (1998) Brain , vol.121 , pp. 2335-2339
    • Valente, E.M.1    Warner, T.T.2    Jarman, P.R.3
  • 101
    • 0032951850 scopus 로고    scopus 로고
    • DYT1 mutation in French families with idiopathic torsion dystonia
    • Lebre AS, Durr A, Jedynak P et al.: DYT1 mutation in French families with idiopathic torsion dystonia. Brain 122, 41-45 (1999).
    • (1999) Brain , vol.122 , pp. 41-45
    • Lebre, A.S.1    Durr, A.2    Jedynak, P.3
  • 102
    • 0033584562 scopus 로고    scopus 로고
    • A common 3-bp deletion in the DYT1 gene in Russian Families with early-onset torsion dystonia
    • Slominsky PA, Markova ED, Shadrina MI et al.: A common 3-bp deletion in the DYT1 gene in Russian Families with early-onset torsion dystonia. Hum. Mutat. 14,269 (1999).
    • (1999) Hum. Mutat , vol.14 , pp. 269
    • Slominsky, P.A.1    Markova, E.D.2    Shadrina, M.I.3
  • 103
    • 0033839130 scopus 로고    scopus 로고
    • Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration
    • Nomura Y, Ikeuchi T, Tsuji S, Segawa M: Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration. Brain Dev. 22, S92-S101 (2000).
    • (2000) Brain Dev , vol.22
    • Nomura, Y.1    Ikeuchi, T.2    Tsuji, S.3    Segawa, M.4
  • 104
    • 0035953154 scopus 로고    scopus 로고
    • DYT1 mutation in Japanese patients with primary torsion dystonia
    • Matsumoto S, Nishimura M, Kaji R et al.: DYT1 mutation in Japanese patients with primary torsion dystonia. Neuroreport 12, 793-795 (2001).
    • (2001) Neuroreport , vol.12 , pp. 793-795
    • Matsumoto, S.1    Nishimura, M.2    Kaji, R.3
  • 105
    • 34249806741 scopus 로고    scopus 로고
    • Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia
    • Szczaluba K, Jurek M, Milewski M et al.: Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia. Eur. J. Neurol. 14, 659-662 (2007).
    • (2007) Eur. J. Neurol , vol.14 , pp. 659-662
    • Szczaluba, K.1    Jurek, M.2    Milewski, M.3
  • 106
    • 29844432320 scopus 로고    scopus 로고
    • DYT1 mutation in a cohort of Taiwanese primary dystonias
    • Lin YW, Chang HC, Chou YH et al.: DYT1 mutation in a cohort of Taiwanese primary dystonias. Parkinsonism Relat. Disord. 12, 15-19 (2005).
    • (2005) Parkinsonism Relat. Disord , vol.12 , pp. 15-19
    • Lin, Y.W.1    Chang, H.C.2    Chou, Y.H.3
  • 107
    • 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. 9, 152-159 (1995).
    • (1995) Nat. Genet , vol.9 , pp. 152-159
    • Risch, N.1    de Leon, D.2    Ozelius, L.3
  • 108
    • 0032803294 scopus 로고    scopus 로고
    • Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: Evidence for a limited number of founder mutations
    • Valente EM, Povey S, Warner TT, Wood NW, Davis MB: Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations. Ann. Hum. Genet. 63(Pt 1), 1-8 (1999).
    • (1999) Ann. Hum. Genet , vol.63 , Issue.PART 1 , pp. 1-8
    • Valente, E.M.1    Povey, S.2    Warner, T.T.3    Wood, N.W.4    Davis, M.B.5
  • 109
    • 0041630710 scopus 로고    scopus 로고
    • Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families
    • Carmona J, Burguera JA, Molla B et al.: Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families. Clin. Genet. 64, 153-159 (2003).
    • (2003) Clin. Genet , vol.64 , pp. 153-159
    • Carmona, J.1    Burguera, J.A.2    Molla, B.3
  • 111
    • 0036237062 scopus 로고    scopus 로고
    • Inherited and de novo mutations in sporadic cases of DYT1-dystonia
    • Hjermind LE, Wardelin LM, Sorensen SA: Inherited and de novo mutations in sporadic cases of DYT1-dystonia. Eur. J. Hum. Genet. 10, 213-216 (2002).
    • (2002) Eur. J. Hum. Genet , vol.10 , pp. 213-216
    • Hjermind, L.E.1    Wardelin, L.M.2    Sorensen, S.A.3
  • 112
    • 0036523854 scopus 로고    scopus 로고
    • Frequency of DYT1 mutation in early onset primary dystonia in Italian patients
    • Zorzi G, Garavaglia B, Invernizzi F et al.: Frequency of DYT1 mutation in early onset primary dystonia in Italian patients. Mov. Disord. 17, 407-408 (2002).
    • (2002) Mov. Disord , vol.17 , pp. 407-408
    • Zorzi, G.1    Garavaglia, B.2    Invernizzi, F.3
  • 113
    • 0034059944 scopus 로고    scopus 로고
    • Frequency of the DYT1 mutation in primary torsion dystonia without family history
    • Brassat D, Camuzat A, Vidailhet M et al.: Frequency of the DYT1 mutation in primary torsion dystonia without family history. Arch. Neurol. 57, 333-335 (2000).
    • (2000) Arch. Neurol , vol.57 , pp. 333-335
    • Brassat, D.1    Camuzat, A.2    Vidailhet, M.3
  • 114
    • 0033435220 scopus 로고    scopus 로고
    • GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany
    • Kamm C, Castelon-Konkiewitz E, Naumann M et al.: GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov. Disord. 14, 681-683 (1999).
    • (1999) Mov. Disord , vol.14 , pp. 681-683
    • Kamm, C.1    Castelon-Konkiewitz, E.2    Naumann, M.3
  • 117
    • 34249105158 scopus 로고    scopus 로고
    • First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
    • Frédéric M, Lucarz E, Monino C et al.: First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population. Mov. Disord. 22, 884-888 (2007).
    • (2007) Mov. Disord , vol.22 , pp. 884-888
    • Frédéric, M.1    Lucarz, E.2    Monino, C.3
  • 118
    • 14944359205 scopus 로고    scopus 로고
    • Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family
    • Moretti P, Hedera P, Wald J, Fink J: Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family. Mov. Disord. 20, 245-247 (2005).
    • (2005) Mov. Disord , vol.20 , pp. 245-247
    • Moretti, P.1    Hedera, P.2    Wald, J.3    Fink, J.4
  • 119
    • 0029049876 scopus 로고
    • Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
    • Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K: Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 4, 1209-1212 (1995).
    • (1995) Hum. Mol. Genet , vol.4 , pp. 1209-1212
    • Knappskog, P.M.1    Flatmark, T.2    Mallet, J.3    Ludecke, B.4    Bartholome, K.5
  • 120
    • 0030035985 scopus 로고    scopus 로고
    • Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
    • Ludecke B, Knappskog PM, Clayton PT et al.: Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 5, 1023-1028 (1996).
    • (1996) Hum. Mol. Genet , vol.5 , pp. 1023-1028
    • Ludecke, B.1    Knappskog, P.M.2    Clayton, P.T.3
  • 121
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose H, Ohye T, Takahashi E et al.: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet. 8, 236-242 (1994).
    • (1994) Nat. Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 122
    • 0034000388 scopus 로고    scopus 로고
    • Pallidal stimulation for generalized dystonia. Report of three cases
    • Tronnier VM, Fogel W: Pallidal stimulation for generalized dystonia. Report of three cases. J. Neurosurg. 92, 453-456 (2000).
    • (2000) J. Neurosurg , vol.92 , pp. 453-456
    • Tronnier, V.M.1    Fogel, W.2
  • 123
    • 33846140462 scopus 로고    scopus 로고
    • KASH-domain proteins in nuclear migration, anchorage and other processes
    • Wilhelmsen K, Ketema M, Truong H, Sonnenberg A: KASH-domain proteins in nuclear migration, anchorage and other processes. J. Cell Sci. 119, 5021-5029 (2006).
    • (2006) J. Cell Sci , vol.119 , pp. 5021-5029
    • Wilhelmsen, K.1    Ketema, M.2    Truong, H.3    Sonnenberg, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.