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Volumn 19, Issue 3, 1999, Pages 271-280

Genetics of primary dystonia

Author keywords

Dystonia; Genetics; Review

Indexed keywords

DOPA; DOPAMINE 2 RECEPTOR; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; TYROSINE 3 MONOOXYGENASE;

EID: 0032708965     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1040843     Document Type: Article
Times cited : (30)

References (89)
  • 1
    • 0023720988 scopus 로고
    • Investigation of dystonia
    • Marsden CD. Investigation of dystonia. Adv Neurol 1988;50:35-44
    • (1988) Adv Neurol , vol.50 , pp. 35-44
    • Marsden, C.D.1
  • 4
    • 0032008670 scopus 로고    scopus 로고
    • Clinical and molecular genetics of primary dystonias
    • Müller U, Steinberger D, Nemeth AH. Clinical and molecular genetics of primary dystonias. Neurogenetics 1998;1:165-177
    • (1998) Neurogenetics , vol.1 , pp. 165-177
    • Müller, U.1    Steinberger, D.2    Nemeth, A.H.3
  • 5
    • 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 1998;44:126-128
    • (1998) Ann Neurol , vol.44 , pp. 126-128
    • Gasser, T.1    Windgassen, K.2    Bereznai, B.3    Kabus, C.4    Ludolph, A.C.5
  • 8
    • 0001473859 scopus 로고
    • Über eine eigenartige krampfkrankheit des kindlichen und jugendlichen alters (dysbasia lordotica progressiva, dystonia musculorum deformans)
    • Oppenheim H. Über eine eigenartige Krampfkrankheit des kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, dystonia musculorum deformans). Neurol Centralbl 1911;30: 1090-1107
    • (1911) Neurol Centralbl , vol.30 , pp. 1090-1107
    • Oppenheim, H.1
  • 9
    • 0014066997 scopus 로고
    • Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies
    • Zeman W, Dyken P. Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. Psychiatr Neurol Neurochir 1967;70:77-121
    • (1967) Psychiatr Neurol Neurochir , vol.70 , pp. 77-121
    • Zeman, W.1    Dyken, P.2
  • 10
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch NJ, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet 1995;9:152-159
    • (1995) Nature Genet , vol.9 , pp. 152-159
    • Risch, N.J.1    De Leon, D.2    Ozelius, L.3    Kramer, P.4    Almasy, L.5    Singer, B.6
  • 12
    • 0024457283 scopus 로고
    • Idiopathic dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
    • Bressman SB, de Leon D, Brin MF, Risch N, Burke RE, Greene PE, et al. Idiopathic dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance. Ann Neurol 1989;26:612-620
    • (1989) Ann Neurol , vol.26 , pp. 612-620
    • Bressman, S.B.1    De Leon, D.2    Brin, M.F.3    Risch, N.4    Burke, R.E.5    Greene, P.E.6
  • 13
    • 0025349857 scopus 로고
    • Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance
    • Risch NJ, Bressman SB, de Leon D, Brin MF, Burke RE, Greene PE, et al. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am J Hum Genet 1990;46:533-538
    • (1990) Am J Hum Genet , vol.46 , pp. 533-538
    • Risch, N.J.1    Bressman, S.B.2    De Leon, D.3    Brin, M.F.4    Burke, R.E.5    Greene, P.E.6
  • 15
    • 0027930349 scopus 로고
    • The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews
    • Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 1994;55:468-475
    • (1994) Am J Hum Genet , vol.55 , pp. 468-475
    • Kramer, P.L.1    Heiman, G.A.2    Gasser, T.3    Ozelius, L.J.4    De Leon, D.5    Brin, M.F.6
  • 16
    • 0026581762 scopus 로고
    • Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews
    • Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, et al. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 1992;50:619-628
    • (1992) Am J Hum Genet , vol.50 , pp. 619-628
    • Ozelius, L.J.1    Kramer, P.L.2    De Leon, D.3    Risch, N.4    Bressman, S.B.5    Schuback, D.E.6
  • 17
    • 15144348731 scopus 로고    scopus 로고
    • Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium
    • Ozelius LJ, Hewett J, Kramer P, Bressman SB, Shalish C, de Leon D, et al. Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res 1997;7:483-494
    • (1997) Genome Res , vol.7 , pp. 483-494
    • Ozelius, L.J.1    Hewett, J.2    Kramer, P.3    Bressman, S.B.4    Shalish, C.5    De Leon, D.6
  • 25
    • 0023675531 scopus 로고
    • Concept and classification of dystonia
    • Fahn S. Concept and classification of dystonia. Adv Neurol 1988;50:1-8
    • (1988) Adv Neurol , vol.50 , pp. 1-8
    • Fahn, S.1
  • 27
    • 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 1996;10:1673-1677
    • (1996) Hum Mol Genet , vol.10 , pp. 1673-1677
    • Leube, B.1    Rudnicki, D.2    Ratzlaff, T.3    Kessler, K.R.4    Benecke, R.5    Auburger, G.6
  • 28
  • 29
    • 0030770713 scopus 로고    scopus 로고
    • Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe
    • Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G. Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. Am J Med Genet 1997;74: 529-532
    • (1997) Am J Med Genet , vol.74 , pp. 529-532
    • Leube, B.1    Hendgen, T.2    Kessler, K.R.3    Knapp, M.4    Benecke, R.5    Auburger, G.6
  • 30
    • 0033051829 scopus 로고    scopus 로고
    • Evidence for a dystonia gene on chromosome 18p in three patients with an 18p-syndrome
    • Klein C, Page CE, LeWitt P, Gordon MF, de Leon D, Awaad Y, et al. Evidence for a dystonia gene on chromosome 18p in three patients with an 18p-syndrome. Neurology 1999;52:649-651
    • (1999) Neurology , vol.52 , pp. 649-651
    • Klein, C.1    Page, C.E.2    LeWitt, P.3    Gordon, M.F.4    De Leon, D.5    Awaad, Y.6
  • 35
    • 0030880430 scopus 로고    scopus 로고
    • Intrafamilial heterogeneity of movement disorders: Report of three cases in one family
    • Lossos A, Cohen O, Meiner V, Blumenfeld A, Reches A. Intrafamilial heterogeneity of movement disorders: Report of three cases in one family. J Neurol 1997;244:426-430
    • (1997) J Neurol , vol.244 , pp. 426-430
    • Lossos, A.1    Cohen, O.2    Meiner, V.3    Blumenfeld, A.4    Reches, A.5
  • 36
    • 0021816202 scopus 로고
    • Hereditary whispering dysphonia
    • Parker N. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry 1985;48:218-224
    • (1985) J Neurol Neurosurg Psychiatry , vol.48 , pp. 218-224
    • Parker, N.1
  • 40
    • 0001504349 scopus 로고
    • The paroxysmal dyskinesias
    • Marsden CD, Fahn S, eds. Cambridge: Butterworth-Heinemann
    • Fahn S. The paroxysmal dyskinesias. In: Marsden CD, Fahn S, eds. Movement Disorders 3. Cambridge: Butterworth-Heinemann, 1994:310-345
    • (1994) Movement Disorders , vol.3 , pp. 310-345
    • Fahn, S.1
  • 41
    • 0032132587 scopus 로고    scopus 로고
    • Nichtepileptische paroyxsmale bewegungsstörungen
    • Klein C, Vieregge P. Nichtepileptische paroyxsmale Bewegungsstörungen. Nervenarzt 1998;69:647-659
    • (1998) Nervenarzt , vol.69 , pp. 647-659
    • Klein, C.1    Vieregge, P.2
  • 42
    • 0014109480 scopus 로고
    • Paroxysmal kinesigenic choreoathetosis
    • Kertesz A. Paroxysmal kinesigenic choreoathetosis. Neurology 1967;17:680-690
    • (1967) Neurology , vol.17 , pp. 680-690
    • Kertesz, A.1
  • 43
    • 0017616188 scopus 로고
    • Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes
    • Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977;2: 285-293
    • (1977) Ann Neurol , vol.2 , pp. 285-293
    • Lance, J.W.1
  • 44
    • 0029091303 scopus 로고
    • Paroxysmal dyskinesias: Clinical features and classification
    • Demirkiran M, Jankovic J. Paroxysmal dyskinesias: Clinical features and classification. Ann Neurol 1995;38:571-579
    • (1995) Ann Neurol , vol.38 , pp. 571-579
    • Demirkiran, M.1    Jankovic, J.2
  • 47
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet 1995;11:201-203
    • (1995) Nature Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3    Wallace, R.H.4    Phillips, H.A.5    Sutherland, G.R.6
  • 48
    • 0030027095 scopus 로고    scopus 로고
    • A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
    • Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 1996;31:90-94
    • (1996) Genomics , vol.31 , pp. 90-94
    • Auburger, G.1    Ratzlaff, T.2    Lunkes, A.3    Nelles, H.W.4    Leube, B.5    Binkofski, F.6
  • 49
    • 0000738544 scopus 로고
    • Familial paroxysmal choreoathetosis: Preliminary report on a hitherto undescribed clinical syndrome
    • Mount LA, Reback S. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch Neurol Psychiatry 1940;44:841-847
    • (1940) Arch Neurol Psychiatry , vol.44 , pp. 841-847
    • Mount, L.A.1    Reback, S.2
  • 52
    • 0031457049 scopus 로고    scopus 로고
    • Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family
    • Jarman PR, Davis MB, Hodgson SV, Marsden CD, Wood NW. Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family. Brain 1997;120:2125-2130
    • (1997) Brain , vol.120 , pp. 2125-2130
    • Jarman, P.R.1    Davis, M.B.2    Hodgson, S.V.3    Marsden, C.D.4    Wood, N.W.5
  • 53
    • 0031948567 scopus 로고    scopus 로고
    • Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34
    • Raskind WH, Bolin T, Wolff J, Fink J, Matsushita M, Litt M, et al. Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. Hum Genet 1998;102:93-97
    • (1998) Hum Genet , vol.102 , pp. 93-97
    • Raskind, W.H.1    Bolin, T.2    Wolff, J.3    Fink, J.4    Matsushita, M.5    Litt, M.6
  • 54
    • 0031604087 scopus 로고    scopus 로고
    • Inherited myoclonus-dystonia syndrome
    • Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998;78:325-334
    • (1998) Adv Neurol , vol.78 , pp. 325-334
    • Gasser, T.1
  • 55
    • 0023763764 scopus 로고
    • Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: An area of confusion
    • Quinn NP, Rothwell JC, Thompson PD, Marsden CD. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 1988; 50:391-401
    • (1988) Adv Neurol , vol.50 , pp. 391-401
    • Quinn, N.P.1    Rothwell, J.C.2    Thompson, P.D.3    Marsden, C.D.4
  • 56
    • 0029882099 scopus 로고    scopus 로고
    • Essential myoclonus and myoclonic dystonia
    • Quinn NP. Essential myoclonus and myoclonic dystonia. Mov Disord 1996;11:119-124
    • (1996) Mov Disord , vol.11 , pp. 119-124
    • Quinn, N.P.1
  • 57
    • 0014127906 scopus 로고
    • Hereditary essential myoclonus
    • Mahloudji M, Pikielny RT. Hereditary essential myoclonus. Brain 1967;90:669-674
    • (1967) Brain , vol.90 , pp. 669-674
    • Mahloudji, M.1    Pikielny, R.T.2
  • 58
    • 0031036710 scopus 로고    scopus 로고
    • Essential myoclonus and myoclonic dystonia
    • Lang AE. Essential myoclonus and myoclonic dystonia. Mov Disord 1997;12:127
    • (1997) Mov Disord , vol.12 , pp. 127
    • Lang, A.E.1
  • 64
    • 0025121092 scopus 로고
    • Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis
    • Kupke KG, Lee L, Mueller U. Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis. Neurology 1990;40: 1438-1442
    • (1990) Neurology , vol.40 , pp. 1438-1442
    • Kupke, K.G.1    Lee, L.2    Mueller, U.3
  • 65
    • 0030015934 scopus 로고    scopus 로고
    • Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism
    • Ishikawa A, Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 1996;47:160-166
    • (1996) Neurology , vol.47 , pp. 160-166
    • Ishikawa, A.1    Tsuji, S.2
  • 68
    • 0031780914 scopus 로고    scopus 로고
    • Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism
    • Brashear A, Butler IJ, Hyland K, Farlow MR, Dobyns WB. Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. Ann Neurol 1998;43:521-526
    • (1998) Ann Neurol , vol.43 , pp. 521-526
    • Brashear, A.1    Butler, I.J.2    Hyland, K.3    Farlow, M.R.4    Dobyns, W.B.5
  • 69
    • 0031614238 scopus 로고    scopus 로고
    • Rapid-onset dystonia-parkinsonism: A report of clinical, biochemical, and genetic studies in two families
    • Brashear A, Butler IJ, Ozelius LJ, Kramer PL, Farlow MR, Breakefield XO, et al. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol 1998;78:335-340
    • (1998) Adv Neurol , vol.78 , pp. 335-340
    • Brashear, A.1    Butler, I.J.2    Ozelius, L.J.3    Kramer, P.L.4    Farlow, M.R.5    Breakefield, X.O.6
  • 71
    • 0342294642 scopus 로고    scopus 로고
    • Rapid-onset dystonia parkinsonism: A new kindred
    • Pittock SJ, Webb DW, Hardiman O. Rapid-onset dystonia parkinsonism: A new kindred. Neurology 1999;52(suppl. 2):A120
    • (1999) Neurology , vol.52 , Issue.SUPPL. 2
    • Pittock, S.J.1    Webb, D.W.2    Hardiman, O.3
  • 72
    • 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 1976;14:215-233
    • (1976) Adv Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3    Nomura, Y.4    Imai, H.5
  • 73
    • 0025124542 scopus 로고
    • Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family
    • Nygaard TG, Trugman JM, de Yebenes JG, Fahn S. Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family. Neurology 1990;66:66-69
    • (1990) Neurology , vol.66 , pp. 66-69
    • Nygaard, T.G.1    Trugman, J.M.2    De Yebenes, J.G.3    Fahn, S.4
  • 74
    • 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, Seki N, Hori T, Segawa M, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet 1994;8:236-242
    • (1994) Nature Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3    Seki, N.4    Hori, T.5    Segawa, M.6
  • 75
    • 0031958577 scopus 로고    scopus 로고
    • High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia
    • Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, Martinius J, et al. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann Neurol 1998;43:634-639
    • (1998) Ann Neurol , vol.43 , pp. 634-639
    • Steinberger, D.1    Weber, Y.2    Korinthenberg, R.3    Deuschl, G.4    Benecke, R.5    Martinius, J.6
  • 77
    • 0031578225 scopus 로고    scopus 로고
    • Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia
    • Hirano M, Imaiso Y, Ueno S. Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia. Biochem Biophys Res Commun 1997;234:316-319
    • (1997) Biochem Biophys Res Commun , vol.234 , pp. 316-319
    • Hirano, M.1    Imaiso, Y.2    Ueno, S.3
  • 78
    • 0030877470 scopus 로고    scopus 로고
    • Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes
    • Thoeny B, Blau N. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum Mutat 1997;10: 11-20
    • (1997) Hum Mutat , vol.10 , pp. 11-20
    • Thoeny, B.1    Blau, N.2
  • 79
    • 0031926568 scopus 로고    scopus 로고
    • Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations
    • Furukawa Y, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol 1998;44:10-16
    • (1998) Ann Neurol , vol.44 , pp. 10-16
    • Furukawa, Y.1    Kish, S.J.2    Bebin, E.M.3    Jacobson, R.D.4    Fryburg, J.S.5    Wilson, W.G.6
  • 80
    • 0028816765 scopus 로고
    • A point mutation in the tyrosine hydroxylase gene associated with Segawaís syndrome
    • Luedecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawaís syndrome. Hum Genet 1995;95:123-125
    • (1995) Hum Genet , vol.95 , pp. 123-125
    • Luedecke, B.1    Dworniczak, B.2    Bartholome, K.3
  • 81
    • 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, Luedecke B, Bartholome K. Recessively inherited L-Dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995;4:1209-1212
    • (1995) Hum Mol Genet , vol.4 , pp. 1209-1212
    • Knappskog, P.M.1    Flatmark, T.2    Mallet, J.3    Luedecke, B.4    Bartholome, K.5
  • 86
    • 0026071238 scopus 로고
    • Genetic mapping of Lubag (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome
    • Wilhelmsen KC, Weeks DE, Nygaard TG, Moskowitz CB, Rosales RL, dela Paz DC, et al. Genetic mapping of Lubag (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome. Ann Neurol 1991;29: 124-131
    • (1991) Ann Neurol , vol.29 , pp. 124-131
    • Wilhelmsen, K.C.1    Weeks, D.E.2    Nygaard, T.G.3    Moskowitz, C.B.4    Rosales, R.L.5    Dela Paz, D.C.6
  • 87
    • 0026629916 scopus 로고
    • Delineation of the dystonia-parkinsonism syndrome locus in Xq13
    • Graeber MB, Kupke KG, Mueller U. Delineation of the dystonia-parkinsonism syndrome locus in Xq13. Proc Natl Acad Sci USA 1992;89:8245-8248
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 8245-8248
    • Graeber, M.B.1    Kupke, K.G.2    Mueller, U.3
  • 88
    • 0029135425 scopus 로고
    • Assignment of the dystonia-Parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1
    • Haberhausen G, Schmitt I, Koehler A, Peters U, Rider S, Chelly J, et al. Assignment of the dystonia-Parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. Am J Hum Genet 1995;57:644-650
    • (1995) Am J Hum Genet , vol.57 , pp. 644-650
    • Haberhausen, G.1    Schmitt, I.2    Koehler, A.3    Peters, U.4    Rider, S.5    Chelly, J.6
  • 89
    • 0031429098 scopus 로고    scopus 로고
    • AFX1 and p54nrb: Fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism
    • Peters U, Haberhausen G, Kostrzewa M, Nolte D, Mueller U. AFX1 and p54nrb: Fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism. Hum Genet 1997;100:569-572
    • (1997) Hum Genet , vol.100 , pp. 569-572
    • Peters, U.1    Haberhausen, G.2    Kostrzewa, M.3    Nolte, D.4    Mueller, U.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.