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Volumn 13, Issue 2, 1998, Pages 303-308

X-linked dystonia-deafness syndrome

Author keywords

Deafness; Dystonia; Mosaic pattern of gliosis; X linked

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CAUDATE NUCLEUS; CHROMOSOME XQ; COGNITIVE DEFECT; DYSTONIA; GLIOSIS; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; INHERITANCE; MALE; NERVE DEGENERATION; NEUROPATHOLOGY; PRIORITY JOURNAL; PUTAMEN; PYRAMIDAL TRACT; X CHROMOSOME LINKAGE;

EID: 0031907475     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.870130217     Document Type: Article
Times cited : (21)

References (24)
  • 2
    • 0025121092 scopus 로고
    • Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis
    • Kupke KG, Lee LV, Muller 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.V.2    Muller, U.3
  • 3
    • 0026629916 scopus 로고
    • Delineation of the Dystonia-Parkinsonian syndrome (XDP) locus in Xq13
    • Graeber MB, Kupke KG, Muller U. Delineation of the Dystonia-Parkinsonian syndrome (XDP) locus in Xq13. Proc Nat Acad Sci USA 1992;89:8245-8248.
    • (1992) Proc Nat Acad Sci USA , vol.89 , pp. 8245-8248
    • Graeber, M.B.1    Kupke, K.G.2    Muller, U.3
  • 4
    • 0016910645 scopus 로고
    • Familial syndrome with dystonia, neural deafness and possible intellectual impairment
    • Scribanu N, Kennedy C. Familial syndrome with dystonia, neural deafness and possible intellectual impairment. Adv Neurol 1976; 14:235-243.
    • (1976) Adv Neurol , vol.14 , pp. 235-243
    • Scribanu, N.1    Kennedy, C.2
  • 5
    • 0003436550 scopus 로고
    • Baltimore and London: The Johns Hopkins University Press
    • McKusick VA. Mendelian inheritance in man. Baltimore and London: The Johns Hopkins University Press, 1992.
    • (1992) Mendelian Inheritance in Man
    • McKusick, V.A.1
  • 6
    • 0025067469 scopus 로고
    • The genetics of primary torsion dystonia
    • Muller U, Kupke KG. The genetics of primary torsion dystonia. Hum Genet 1990;84:107-115.
    • (1990) Hum Genet , vol.84 , pp. 107-115
    • Muller, U.1    Kupke, K.G.2
  • 7
    • 0028935319 scopus 로고
    • A new X linked recessive deafness syndrome with blindness, dystonia, fractures and mental deficiency is linked to Xq22
    • Tranebjaerg L, Schwartz C, Eriksen H, et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures and mental deficiency is linked to Xq22. J Med Genet 1995;32: 257-263.
    • (1995) J Med Genet , vol.32 , pp. 257-263
    • Tranebjaerg, L.1    Schwartz, C.2    Eriksen, H.3
  • 8
    • 16044366597 scopus 로고    scopus 로고
    • A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
    • Jin H, May M, Tranebjaerg L, et al. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 1996;14:177-180.
    • (1996) Nat Genet , vol.14 , pp. 177-180
    • Jin, H.1    May, M.2    Tranebjaerg, L.3
  • 9
    • 0020537899 scopus 로고
    • Spontaneous oral-facial dyskinesis: Neuropathology of a case
    • Altrocchi PH, Forno LS. Spontaneous oral-facial dyskinesis: neuropathology of a case. Neurology 1983;33:802-805.
    • (1983) Neurology , vol.33 , pp. 802-805
    • Altrocchi, P.H.1    Forno, L.S.2
  • 10
    • 0027268724 scopus 로고
    • Neuropathology of Lubag (X-linked dystonia parkinsonism)
    • Waters CH, Faust PL, Powers J, et al. Neuropathology of Lubag (X-linked dystonia parkinsonism). Mov Disord 1993;8:387-390.
    • (1993) Mov Disord , vol.8 , pp. 387-390
    • Waters, C.H.1    Faust, P.L.2    Powers, J.3
  • 11
    • 0026771886 scopus 로고
    • Severe generalized dystonia associated with a mosaic pattern of striatal gliosis
    • Gibbs WRG, Kilford L, Marsden CD. Severe generalized dystonia associated with a mosaic pattern of striatal gliosis. Mov Disord 1992;7:217-223
    • (1992) Mov Disord , vol.7 , pp. 217-223
    • Gibbs, W.R.G.1    Kilford, L.2    Marsden, C.D.3
  • 12
    • 0030884691 scopus 로고    scopus 로고
    • Mosaic pattern of gliosis in the neostriatum of a North American man with craniocervical dystonia and parkinsonism
    • in press
    • Factor SA, Barron KD. Mosaic pattern of gliosis in the neostriatum of a North American man with craniocervical dystonia and parkinsonism. Mov Disord (in press).
    • Mov Disord
    • Factor, S.A.1    Barron, K.D.2
  • 14
    • 0028142316 scopus 로고
    • Genetic homogeneity of Pelizaeus-Merzbacher disease: Tight linkage to the proteolipoprotein locus in 16 affected families
    • and PMD Clinical Group.
    • Boespflug-Tanguy O, Mimault C, Melki J, et al and PMD Clinical Group. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. Am J Hum Genet 1994;55:461-467.
    • (1994) Am J Hum Genet , vol.55 , pp. 461-467
    • Boespflug-Tanguy, O.1    Mimault, C.2    Melki, J.3
  • 15
    • 0028239867 scopus 로고
    • X linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
    • Saugier-Veber P, Munnich A, Bonneau D, et al. X linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-262.
    • (1994) Nat Genet , vol.6 , pp. 257-262
    • Saugier-Veber, P.1    Munnich, A.2    Bonneau, D.3
  • 16
    • 0028237666 scopus 로고
    • Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22
    • Vorechovsky I, Vetrie D, Holland J, et al. Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22. Genomics 1994;21:517-524.
    • (1994) Genomics , vol.21 , pp. 517-524
    • Vorechovsky, I.1    Vetrie, D.2    Holland, J.3
  • 18
    • 0028342840 scopus 로고
    • X-linked mental retardation with dystonic movements of the hands (PRTS): Revisited
    • Gedeon A, Partington M, Mulley J. X-linked mental retardation with dystonic movements of the hands (PRTS): revisited. Am J Med Genet 1994;51:565-568.
    • (1994) Am J Med Genet , vol.51 , pp. 565-568
    • Gedeon, A.1    Partington, M.2    Mulley, J.3
  • 19
    • 0023471357 scopus 로고
    • Deletion of the DX165 locus in patients with classical choroideremia
    • Cremers FPM, Brunsmann F, van de Pol TJR, et al. Deletion of the DX165 locus in patients with classical choroideremia. Clin Genet 1987;32:421-423.
    • (1987) Clin Genet , vol.32 , pp. 421-423
    • Cremers, F.P.M.1    Brunsmann, F.2    Van de Pol, T.J.R.3
  • 20
    • 0346118229 scopus 로고
    • Isolation of anonymous DNA sequence from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness and mental retardation
    • Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DH. Isolation of anonymous DNA sequence from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness and mental retardation. Proc Natl Acad Sci USA 1987; 84:6521-6525.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 6521-6525
    • Nussbaum, R.L.1    Lesko, J.G.2    Lewis, R.A.3    Ledbetter, S.A.4    Ledbetter, D.H.5
  • 23
    • 0028342847 scopus 로고
    • A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
    • Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994;91:6206-6210.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 24
    • 0026519547 scopus 로고
    • Sensorineural deafness inherited as a tissue specific mitochondrial disorder
    • Jaber L, Shohat M, Bu X, et al. Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J Med Genet 1992;29:86-90.
    • (1992) J Med Genet , vol.29 , pp. 86-90
    • Jaber, L.1    Shohat, M.2    Bu, X.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.