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Volumn 20, Issue 3, 2002, Pages 759-778

Inherited movement disorders

Author keywords

[No Author keywords available]

Indexed keywords

ACANTHOCYTOSIS; CHOREOATHETOSIS; CLINICAL FEATURE; DYSTONIA; GENETIC ANALYSIS; GENETIC DISORDER; HALLERVORDEN SPATZ DISEASE; HUMAN; HUNTINGTON CHOREA; MOTOR DYSFUNCTION; NEUROPROTECTION; PARKINSON DISEASE; PEDIGREE; PRIORITY JOURNAL; REVIEW; WILSON DISEASE;

EID: 0036699606     PISSN: 07338619     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0733-8619(01)00014-7     Document Type: Article
Times cited : (5)

References (111)
  • 1
    • 0028359603 scopus 로고
    • Incidence and prevalence of Huntington's disease in Olmsted county, Minnesota (1950 through 1989)
    • Kokmen E, Ozekmekci FS. Beard, Cm, O'Brien, PC, Kurland, LT. Incidence and prevalence of Huntington's disease in Olmsted county, Minnesota (1950 through 1989). Arch Neurol 1994;51:696-8.
    • (1994) Arch Neurol , vol.51 , pp. 696-698
    • Kokmen, E.1    Ozekmekci, F.S.2    Beard, C.M.3    O'Brien, P.C.4    Kurland, L.T.5
  • 2
    • 0002952795 scopus 로고    scopus 로고
    • The natural history of Huntington's disease
    • Harper P, editor, London: WB Saunders
    • Harper P. The natural history of Huntington's disease. In: Harper P, editor. Huntington's disease, London: WB Saunders; 1996. P. 123-36.
    • (1996) Huntington's disease , pp. 123-136
    • Harper, P.1
  • 3
    • 0000970542 scopus 로고
    • Extrapyramidal disorders
    • Vinken P, Bruyn GW, Klawans HL, editors. Amsterdam, Netherlands: Elsevier Science
    • Bruyn G, Wendt LN. Extrapyramidal disorders. In: Handbook of clinical neurology, Vinken P, Bruyn GW, Klawans HL, editors. Amsterdam, Netherlands: Elsevier Science; 1986. P. 267-314.
    • (1986) Handbook of clinical neurology , pp. 267-314
    • Bruyn, G.1    Wendt, L.N.2
  • 6
    • 0023112148 scopus 로고
    • Saccades in Huntington's disease: Initiation defects and distractility
    • Lasker AG, Hain TC, Folstein SE, Singer HS. Saccades in Huntington's disease: initiation defects and distractility. Neurology 1987;37:364-70.
    • (1987) Neurology , vol.37 , pp. 364-370
    • Lasker, A.G.1    Hain, T.C.2    Folstein, S.E.3    Singer, H.S.4
  • 10
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
    • (1993) Cell , vol.72 , pp. 971-983
  • 11
    • 0028989602 scopus 로고
    • Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons
    • DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, et al. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 1995;14:1075-81.
    • (1995) Neuron , vol.14 , pp. 1075-1081
    • DiFiglia, M.1    Sapp, E.2    Chase, K.3    Schwarz, C.4    Meloni, A.5    Young, C.6
  • 12
    • 0027359989 scopus 로고
    • Molecular analysis of new mutations for Huntington's disease, intermediate alleles and sex of origin effects
    • Goldberg YP, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, et al. Molecular analysis of new mutations for Huntington's disease, intermediate alleles and sex of origin effects. Nat Genet 1993;5:174-9.
    • (1993) Nat Genet , vol.5 , pp. 174-179
    • Goldberg, Y.P.1    Andrew, S.E.2    Theilmann, J.3    Graham, R.K.4    Squitieri, F.5    Telenius, H.6
  • 14
    • 0029997090 scopus 로고    scopus 로고
    • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
    • Rubinsztein DC, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996;59:16-22.
    • (1996) Am J Hum Genet , vol.59 , pp. 16-22
    • Rubinsztein, D.C.1    Coles, R.2    Almqvist, E.3    Biancalana, V.4    Cassiman, J.J.5    Chotai, K.6
  • 17
    • 0030935035 scopus 로고    scopus 로고
    • The likelihood of being affected with Huntington's disease by a particular age, for a specific CAG size
    • Brinkman R, Mezei MM, Theilmann J, Almqvist E, Hayden MR. The likelihood of being affected with Huntington's disease by a particular age, for a specific CAG size. Am J Hum Genet 1997;60:1202-10.
    • (1997) Am J Hum Genet , vol.60 , pp. 1202-1210
    • Brinkman, R.1    Mezei, M.M.2    Theilmann, J.3    Almqvist, E.4    Hayden, M.R.5
  • 19
    • 0004293145 scopus 로고    scopus 로고
    • Huntington's disease: Genetic and molecular studies
    • Harper P, editor. London: WB Saunders
    • Harper P, Shaw D. Huntington's disease: genetic and molecular studies. In: Harper P, editor. Huntington's disease. London: WB Saunders; 1996. P. 241-92.
    • (1996) Huntington's disease , pp. 241-292
    • Harper, P.1    Shaw, D.2
  • 20
    • 0002358759 scopus 로고    scopus 로고
    • Predictive tests in Huntington's disease
    • Harper P, editor. London: WB Saunders
    • Harper P, Soldan J, Tyler A. Predictive tests in Huntington's disease. In: Harper P, editor. Huntington's disease. London: WB Saunders; 1996. P. 395-424.
    • (1996) Huntington's disease , pp. 395-424
    • Harper, P.1    Soldan, J.2    Tyler, A.3
  • 22
    • 0025885733 scopus 로고
    • Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease
    • Hedreen J, Peyser CE, Folstein SE, Ross CA. Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease. Neurosci Lett 1991;133:257-61.
    • (1991) Neurosci Lett , vol.133 , pp. 257-261
    • Hedreen, J.1    Peyser, C.E.2    Folstein, S.E.3    Ross, C.A.4
  • 23
    • 0000174823 scopus 로고
    • Neuropathology of Huntington's chorea
    • Vinken P, Bruyn G, Klawans H, editors. Amsterdam, Netherlands: Elsevier
    • Roos R. Neuropathology of Huntington's chorea. In: Vinken P, Bruyn G, Klawans H, editors. Handbook of clinical neurology: extrapyramidal disorders. Amsterdam, Netherlands: Elsevier; 1986. P. 315-26.
    • (1986) Handbook of clinical neurology: extrapyramidal disorders , pp. 315-326
    • Roos, R.1
  • 24
    • 0026012447 scopus 로고
    • Morphometric analysis of the prefrontal cortex in Huntington's disease
    • Sotrel A, Kiely DK, Bird ED, Williams RS, Myers RH. Morphometric analysis of the prefrontal cortex in Huntington's disease. Neurology 1991;41:1117-23.
    • (1991) Neurology , vol.41 , pp. 1117-1123
    • Sotrel, A.1    Kiely, D.K.2    Bird, E.D.3    Williams, R.S.4    Myers, R.H.5
  • 25
    • 85009226418 scopus 로고    scopus 로고
    • A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease
    • Huntington Study Group. A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease. Neurology 2001;57:397-404.
    • (2001) Neurology , vol.57 , pp. 397-404
  • 26
    • 0029937494 scopus 로고    scopus 로고
    • Epidemiology of Parkinson's disease
    • Tanner C, Goldman SM. Epidemiology of Parkinson's disease. Neurol Clin 1996;14:317-33.
    • (1996) Neurol Clin , vol.14 , pp. 317-333
    • Tanner, C.1    Goldman, S.M.2
  • 27
    • 0034850848 scopus 로고    scopus 로고
    • Lumping and splitting the Parkinson plus syndromes
    • Mark M. Lumping and splitting the Parkinson plus syndromes. Neurol Clin 2001;19:607-28.
    • (2001) Neurol Clin , vol.19 , pp. 607-628
    • Mark, M.1
  • 28
    • 0020076144 scopus 로고
    • Olivopontocerebellar atrophy: A review of 117 cases
    • Berciano J. Olivopontocerebellar atrophy: a review of 117 cases. J Neurol Sci 1982;53:253-72.
    • (1982) J Neurol Sci , vol.53 , pp. 253-272
    • Berciano, J.1
  • 33
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos M, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, et al. Mutation in the alpha synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-7.
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.1    Lavedan, C.2    Leroy, E.3    Ide, S.E.4    Dehejia, A.5    Dutra, A.6
  • 34
    • 0031990490 scopus 로고    scopus 로고
    • Ala30 Pro mutation in the gene encoding alpha synuclein in Parkinson's disease
    • Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S, et al. Ala30 Pro mutation in the gene encoding alpha synuclein in Parkinson's disease, Nat Genet 1998;18:106-8.
    • (1998) Nat Genet , vol.18 , pp. 106-108
    • Kruger, R.1    Kuhn, W.2    Muller, T.3    Woitalla, D.4    Graeber, M.5    Kosel, S.6
  • 35
    • 6844236385 scopus 로고    scopus 로고
    • Sequencing of the alpha synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations
    • Vaughan J, Farrer MJ, Wszolek ZK, Gasser T, Durr A, Agid Y, et al. Sequencing of the alpha synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. Hum Mol Genet 1998;7:751-3.
    • (1998) Hum Mol Genet , vol.7 , pp. 751-753
    • Vaughan, J.1    Farrer, M.J.2    Wszolek, Z.K.3    Gasser, T.4    Durr, A.5    Agid, Y.6
  • 36
    • 0035409575 scopus 로고    scopus 로고
    • Alpha-synuclein and neurodegenerative diseases
    • Goedert M. Alpha-synuclein and neurodegenerative diseases. Nature 2001;2:492-501.
    • (2001) Nature , vol.2 , pp. 492-501
    • Goedert, M.1
  • 38
    • 0342368772 scopus 로고    scopus 로고
    • Association between early-onset Parkinson's disease and mutations in the Parkin gene
    • Lucking C, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T, et al. Association between early-onset Parkinson's disease and mutations in the Parkin gene. N Engl J Med 2000;342:1560-7.
    • (2000) N Engl J Med , vol.342 , pp. 1560-1567
    • Lucking, C.1    Durr, A.2    Bonifati, V.3    Vaughan, J.4    De Michele, G.5    Gasser, T.6
  • 39
    • 0033933048 scopus 로고    scopus 로고
    • Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
    • Shimura H, Hattori N, Kubo S, Mizuno Y, Asakawa S, Minoshima S, et al. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 2000;25:302-5.
    • (2000) Nat Genet , vol.25 , pp. 302-305
    • Shimura, H.1    Hattori, N.2    Kubo, S.3    Mizuno, Y.4    Asakawa, S.5    Minoshima, S.6
  • 40
    • 0035854437 scopus 로고    scopus 로고
    • Ubiquitination of a new form of alpha-synuclein by parkin from human brain: Implications for Parkinson's disease
    • Shimura H, Schlossmacher MG, Hattori N, Frosch MP, Trockenbacher A, Schneider R, et al. Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease. Science 2001;293:263-9.
    • (2001) Science , vol.293 , pp. 263-269
    • Shimura, H.1    Schlossmacher, M.G.2    Hattori, N.3    Frosch, M.P.4    Trockenbacher, A.5    Schneider, R.6
  • 42
    • 0035344211 scopus 로고    scopus 로고
    • Experimental models of Parkinson's disease
    • Beal M. Experimental models of Parkinson's disease. Nature Reviews 2001;2:325-332.
    • (2001) Nature Reviews , vol.2 , pp. 325-332
    • Beal, M.1
  • 43
    • 0034704752 scopus 로고    scopus 로고
    • A drosophila model of Parkinson's disease
    • Feany M, Bender WW. A drosophila model of Parkinson's disease. Nature 2000;404:394-8.
    • (2000) Nature , vol.404 , pp. 394-398
    • Feany, M.1    Bender, W.W.2
  • 45
    • 0001177205 scopus 로고    scopus 로고
    • Pramipexole vs levodopa as initial treatment for Parkinson disease: A randomized controlled trial
    • Parkinson Study Group. Pramipexole vs levodopa as initial treatment for Parkinson disease: a randomized controlled trial. JAMA 2000;284:1971-3.
    • (2000) JAMA , vol.284 , pp. 1971-1973
  • 47
    • 0034122412 scopus 로고    scopus 로고
    • Diagnosis of Wilson's disease: An experience over three decades
    • Gow Sr. PJ, Angus PW, Smith AL, Wall AJ, Sewell RB. Diagnosis of Wilson's disease: an experience over three decades. Gut 2000;46:415-19.
    • (2000) Gut , vol.46 , pp. 415-419
    • Gow P.J., Sr.1    Angus, P.W.2    Smith, A.L.3    Wall, A.J.4    Sewell, R.B.5
  • 48
    • 0003739751 scopus 로고
    • Wilson's disease
    • Jankovic J, Tolosa E, editors. Philadelphia: Williams and Wilkins
    • Patten B. Wilson's disease. In: Jankovic J, Tolosa E, editors. Parkinson's disease and movement disorders. Philadelphia: Williams and Wilkins; 1993.
    • (1993) Parkinson's disease and movement disorders
    • Patten, B.1
  • 49
    • 0024852150 scopus 로고
    • Wilson's disease. Psychiatric symptoms in 195 cases
    • Dening T, Berrios GE. Wilson's disease. Psychiatric symptoms in 195 cases. Arch Gen Psychiatry 1989;38:1126-34.
    • (1989) Arch Gen Psychiatry , vol.38 , pp. 1126-1134
    • Dening, T.1    Berrios, G.E.2
  • 52
    • 0024368990 scopus 로고
    • Wilson's disease presenting with features of hepatic dysfunction: A clinical analysis of eighty-seven patients
    • Walshe J. Wilson's disease presenting with features of hepatic dysfunction: a clinical analysis of eighty-seven patients. Q J Med 1989;70:253-63.
    • (1989) Q J Med , vol.70 , pp. 253-263
    • Walshe, J.1
  • 53
    • 0021102491 scopus 로고
    • Investigating diseases no one's got
    • Scheinberg I. Investigating diseases no one's got. N Engl J Med 1983;309:918-19.
    • (1983) N Engl J Med , vol.309 , pp. 918-919
    • Scheinberg, I.1
  • 54
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull PC, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;5:327-37.
    • (1993) Nat Genet , vol.5 , pp. 327-337
    • Bull, P.C.1    Rommens, J.M.2    Forbes, J.R.3    Cox, D.W.4
  • 55
    • 0034474183 scopus 로고    scopus 로고
    • The molecular basis of copper-transport diseases
    • Mercer J. The molecular basis of copper-transport diseases. Trends in Mol Med 2001;7:64-9.
    • (2001) Trends in Mol Med , vol.7 , pp. 64-69
    • Mercer, J.1
  • 58
    • 0033428902 scopus 로고    scopus 로고
    • Penicillamine as a controversial treatment for Wilson's disease
    • LeWitt P. Penicillamine as a controversial treatment for Wilson's disease. Mov Disord 1999;14:555-6.
    • (1999) Mov Disord , vol.14 , pp. 555-556
    • LeWitt, P.1
  • 60
    • 0026317374 scopus 로고
    • Hallervorden-Spatz syndrome and brain iron metabolism
    • Swaiman K. Hallervorden-Spatz syndrome and brain iron metabolism. Arch Neurol 1991;48:1285-93.
    • (1991) Arch Neurol , vol.48 , pp. 1285-1293
    • Swaiman, K.1
  • 61
    • 0018320556 scopus 로고
    • Pigmentary degeneration of the retina in Hallervorden-Spatz syndrome
    • Newell F, Johnson RO 2nd, Huttenlocher PR. Pigmentary degeneration of the retina in Hallervorden-Spatz syndrome. Am J Ophthalmol 1979;88:467-71.
    • (1979) Am J Ophthalmol , vol.88 , pp. 467-471
    • Newell, F.1    Johnson R.O. II2    Huttenlocher, P.R.3
  • 63
    • 0023780837 scopus 로고
    • Hallervorden-Spatz syndrome: Clinical and magnetic resonance imaging correlations
    • Sethi KD AR, Loring DW, el Gammal T. Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. Ann Neurol 1988;24:692-4.
    • (1988) Ann Neurol , vol.24 , pp. 692-694
    • Sethi, K.D.A.R.1    Loring, D.W.2    El Gammal, T.3
  • 65
    • 0001504349 scopus 로고
    • Paroxysmal dyskinesias
    • Marsden C, Fahn S, editors. Oxford: Butterworth-Heineman
    • Fahn S. Paroxysmal dyskinesias. In: Marsden C, Fahn S, editors. Movement disorders. Oxford: Butterworth-Heineman; 1994.
    • (1994) Movement disorders
    • Fahn, S.1
  • 66
    • 0029091303 scopus 로고
    • Paroxysmal dyskinesias: Clinical features and classification
    • Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571-9.
    • (1995) Ann Neurol , vol.38 , pp. 571-579
    • Demirkiran, M.1    Jankovic, J.2
  • 67
    • 0014109480 scopus 로고
    • Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied
    • Kertesz A. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology 1967;17:680-90.
    • (1967) Neurology , vol.17 , pp. 680-690
    • Kertesz, A.1
  • 70
    • 0029834871 scopus 로고    scopus 로고
    • Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepine
    • Wein T, Andermann F, Silver K, Dubeau F, Andermann E, Rourke-Frew F, et al. Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepine. Neurology 1996;47:1104-6.
    • (1996) Neurology , vol.47 , pp. 1104-1106
    • Wein, T.1    Andermann, F.2    Silver, K.3    Dubeau, F.4    Andermann, E.5    Rourke-Frew, F.6
  • 71
    • 0026073577 scopus 로고
    • Neuroacanthocytosis. A clinical haematological and pathological study of 19 cases
    • Hardie RJ, Harding AE, Owen JS, Pires M, Daniels GL, Imai Y, et al. Neuroacanthocytosis. a clinical haematological and pathological study of 19 cases. Brain 1991;14:13-49.
    • (1991) Brain , vol.14 , pp. 13-49
    • Hardie, R.J.1    Harding, A.E.2    Owen, J.S.3    Pires, M.4    Daniels, G.L.5    Imai, Y.6
  • 73
    • 0034967701 scopus 로고    scopus 로고
    • The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
    • Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 2001;28:121-2.
    • (2001) Nat Genet , vol.28 , pp. 121-122
    • Ueno, S.1    Maruki, Y.2    Nakamura, M.3    Tomemori, Y.4    Kamae, K.5    Tanabe, H.6
  • 74
    • 0000959954 scopus 로고    scopus 로고
    • Dystonic Disorders
    • Jankovic J, Tolosa E, editors. Baltimore: Williams and Wilkins
    • Jankovic J, Fahn S. Dystonic Disorders. In: Jankovic J, Tolosa E, editors. Parkinson's disease and movement disorders. Baltimore: Williams and Wilkins; 1998. P. 513-52.
    • (1998) Parkinson's disease and movement disorders , pp. 513-552
    • Jankovic, J.1    Fahn, S.2
  • 77
    • 0027930349 scopus 로고
    • The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews
    • Kramer P, 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;55:468-75.
    • (1994) Am J Hum Genet , vol.55 , pp. 468-475
    • Kramer, P.1    Heiman, G.A.2    Gasser, T.3    Ozelius, L.J.4    De Leon, D.5    Brin, M.F.6
  • 79
    • 0026581762 scopus 로고
    • Strong allelic association between the torsin dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews
    • Ozelius L, Kramer PJ, de Leon D, Risch N, Bressman SB, Schuback DE, et al. Strong allelic association between the torsin dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 1992;50:619-28.
    • (1992) Am J Hum Genet , vol.50 , pp. 619-628
    • Ozelius, L.1    Kramer, P.J.2    De Leon, D.3    Risch, N.4    Bressman, S.B.5    Schuback, D.E.6
  • 80
    • 0027265262 scopus 로고
    • Linkage analysis in British and French families with idiopathic torsion dystonia
    • Warner T, Fletcher NA, Davis MB, Ahmad F, Conway D, Feve A, et al. Linkage analysis in British and French families with idiopathic torsion dystonia. Brain 1993;116:739-44.
    • (1993) Brain , vol.116 , pp. 739-744
    • Warner, T.1    Fletcher, N.A.2    Davis, M.B.3    Ahmad, F.4    Conway, D.5    Feve, A.6
  • 86
    • 0032008670 scopus 로고    scopus 로고
    • Clinical and molecular genetics of primary dystonia
    • Muller U, Steinberger D, Nemeth AH. Clinical and molecular genetics of primary dystonia. Neurogenetics 1998;1:165-77.
    • (1998) Neurogenetics , vol.1 , pp. 165-177
    • Muller, U.1    Steinberger, D.2    Nemeth, A.H.3
  • 87
    • 0025121092 scopus 로고
    • Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis
    • Kupke K, Lee LV, Muller U. Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis. Neurology 1990;40:1438-42.
    • (1990) Neurology , vol.40 , pp. 1438-1442
    • Kupke, K.1    Lee, L.V.2    Muller, U.3
  • 91
    • 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, Kohler 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;57:644-50.
    • (1995) Am J Hum Genet , vol.57 , pp. 644-650
    • Haberhausen, G.1    Schmitt, I.2    Kohler, A.3    Peters, U.4    Rider, S.5    Chelly, J.6
  • 92
    • 0026071238 scopus 로고
    • Genetic mapping of lubag (x-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome
    • Wilhelmsen K, 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.1    Weeks, D.E.2    Nygaard, T.G.3    Moskowitz, C.B.4    Rosales, R.L.5    Dela Paz, D.C.6
  • 94
    • 0031604087 scopus 로고    scopus 로고
    • Inherited myoconus-dystonia syndrome
    • Gasser T. Inherited myoconus-dystonia syndrome. Adv Neurol 1998;78:325-34.
    • (1998) Adv Neurol , vol.78 , pp. 325-334
    • Gasser, T.1
  • 95
    • 0029882099 scopus 로고    scopus 로고
    • Essential myoclonus and myoclonis dystonia
    • Quinn N. Essential myoclonus and myoclonis dystonia. Mov Disord 1996;11:119-24.
    • (1996) Mov Disord , vol.11 , pp. 119-124
    • Quinn, N.1
  • 96
    • 0023763764 scopus 로고
    • Heditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: An area of confusion
    • Quinn N, Rothwell JC, Thompson PD, Marsden CD. Heditary 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.1    Rothwell, J.C.2    Thompson, P.D.3    Marsden, C.D.4
  • 97
    • 17944378309 scopus 로고    scopus 로고
    • Mutations in the gene encoding E-sarcoglycan cause myoclonus-dystonia syndrome
    • Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, et al. Mutations in the gene encoding E-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29:66-9.
    • (2001) Nat Genet , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3    Naumann, M.4    Berg, D.5    Bertram, M.6
  • 98
    • 0034642295 scopus 로고    scopus 로고
    • A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system
    • Imamura M, Araishi K, Noguchi S, Ozawa E. A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system. Hum Mol Genet 2000;9:3091-100.
    • (2000) Hum Mol Genet , vol.9 , pp. 3091-3100
    • Imamura, M.1    Araishi, K.2    Noguchi, S.3    Ozawa, E.4
  • 99
    • 0032559065 scopus 로고    scopus 로고
    • Human epsilon-sarcoglycan is highly related to alphasarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene
    • McNally E, Ly CT, Kunkel LM. Human epsilon-sarcoglycan is highly related to alphasarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS Lett 1998;422:27-32.
    • (1998) FEBS Lett , vol.422 , pp. 27-32
    • McNally, E.1    Ly, C.T.2    Kunkel, L.M.3
  • 100
    • 0027354029 scopus 로고
    • Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
    • Nygaard T. Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993;60:577-85.
    • (1993) Adv Neurol , vol.60 , pp. 577-585
    • Nygaard, T.1
  • 101
    • 0002977292 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M, Editor. New York: Parthenon Publishing
    • Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. In: Hereditary progressive dystonia with marked diurnal fluctuation. Segawa M, Editor. New York: Parthenon Publishing; 1993.
    • (1993) Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa, M.1    Nomura, Y.2
  • 102
    • 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;14:215-33.
    • (1976) Adv Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3    Nomura, Y.4    Imai, H.5
  • 103
    • 0031943362 scopus 로고    scopus 로고
    • Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
    • Furukawa Y, Trugman JM, Bird TD, Hunter A, Sadeh M, Tagawa T, et al. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology 1998;50:1015-20.
    • (1998) Neurology , vol.50 , pp. 1015-1020
    • Furukawa, Y.1    Trugman, J.M.2    Bird, T.D.3    Hunter, A.4    Sadeh, M.5    Tagawa, T.6
  • 104
    • 0031958577 scopus 로고    scopus 로고
    • High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia
    • Steinberger D WY, Korinthenberg R, Deuschl G, Benecke R, Martinius J, Muller U. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann Neurol 1998;43:634-9.
    • (1998) Ann Neurol , vol.43 , pp. 634-639
    • Steinberger, D.W.Y.1    Korinthenberg, R.2    Deuschl, G.3    Benecke, R.4    Martinius, J.5    Muller, U.6
  • 105
    • 0026021079 scopus 로고
    • Dopa-responsive dystonia: Long-term treatment response and prognosis
    • Nygaard T, Marsden CD, Fahn S. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 1991;41:174-81.
    • (1991) Neurology , vol.41 , pp. 174-181
    • Nygaard, T.1    Marsden, C.D.2    Fahn, S.3
  • 106
    • 0030587511 scopus 로고    scopus 로고
    • The GTP-cyclohydrolase I gene in aytpical parkinsonian patients: A clinico-genetic study
    • Bandmann O DS, Marsden CD, Wood NW, Harding AE. The GTP-cyclohydrolase I gene in aytpical parkinsonian patients: a clinico-genetic study. J Neurol Sci 1996;141:27-32.
    • (1996) J Neurol Sci , vol.141 , pp. 27-32
    • Bandmann, O.D.S.1    Marsden, C.D.2    Wood, N.W.3    Harding, A.E.4
  • 107
    • 0031613968 scopus 로고    scopus 로고
    • Atypical presentations of dopa-responsive dystonia
    • Bandmann O, Marsden CD, Wood NW. Atypical presentations of dopa-responsive dystonia. Adv Neurol 1998;78:283-90.
    • (1998) Adv Neurol , vol.78 , pp. 283-290
    • Bandmann, O.1    Marsden, C.D.2    Wood, N.W.3
  • 108
    • 0032731974 scopus 로고    scopus 로고
    • Dopa-responsive dystoia: Recent advances and remaining issues to be addressed
    • Furukawa Y, Kish SJ. Dopa-responsive dystoia: Recent advances and remaining issues to be addressed. Mov Disord 1999;14:709-15.
    • (1999) Mov Disord , vol.14 , pp. 709-715
    • Furukawa, Y.1    Kish, S.J.2
  • 109
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose H, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:207-9.
    • (1994) Nat Genet , vol.8 , pp. 207-209
    • Ichinose, H.1    Takahashi, E.2    Seki, N.3    Hori, T.4    Segawa, M.5    Nomura, Y.6
  • 110
    • 0031608977 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: A syndrome of selective nigrostriatal dopamine deficiency
    • Jeon BS, Park SS, Lee MC. Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopamine deficiency. Adv Neurol 1998;78:309-17.
    • (1998) Adv Neurol , vol.78 , pp. 309-317
    • Jeon, B.S.1    Park, S.S.2    Lee, M.C.3
  • 111
    • 0029049876 scopus 로고
    • Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
    • Knappskog P, 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 1995;4:1209-12.
    • (1995) Hum Mol Genet , vol.4 , pp. 1209-1212
    • Knappskog, P.1    Flatmark, T.2    Mallet, J.3    Ludecke, B.4    Bartholome, K.5


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