1 | DYT3, TAF1
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| X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism.
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| Herzfeld T, Nolte D, Grznarova M, Hofmann A, Schultze JL, Müller U.
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| Hum Mol Genet 22(5):941-51. doi: 10.1093/hmg/dds499. Epub 2012 Nov 25.
2013
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2 | DYT3, TAF1
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| Identification and localization of a neuron-specific isoform of TAF1 in rat brain: implications for neuropathology of DYT3 dystonia.
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| Sako W, Morigaki R, Kaji R, Tooyama I, Okita S, Kitazato K, Nagahiro S, Graybiel AM, Goto S.
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| Neuroscience 189:100-7. doi: 10.1016/j.neuroscience.2011.05.031. Epub 2011 May 19.
2011
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3 | DYT1, DYT11, DYT12, DYT13, DYT15, DYT3, DYT5, DYT6, DYT7, DYT7, DYT8, DYT9, EKD1, EKD2
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| The pathophysiological basis of dystonias.
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| Breakefield XO, Blood AJ, Li Y, Hallett M, Hanson PI, Standaert DG.
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| Nat Rev Neurosci 9(3):222-34. 2008
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4 | DYT3, TAF1
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| Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism.
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| Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S, Matsumoto S, Tabuena MD, Maranon E, Dantes M, Lee LV, Ogasawara K, Tooyama I, Akatsu H, Nishimura M, Tamiya G.
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| Am J Hum Genet 80(3):393-406. Epub 2007 Jan 23. 2007
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5 | DYT3, TAF1
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| First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation.
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| Evidente VG, Lyons MK, Wheeler M, Hillman R, Helepolelei L, Beynen F, Nolte D, Müller U, Starr PA.
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| Mov Disord 22(12):1790-3.PMID: 17579361 2007
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6 | DYT3, FTDP17, FTDU17, FXTAS, LRRK2, MAPT, PARK1, PARK4, PARK5, PARK6, PARK7, PARK8, PINK1, PRKN, PSRP, SNCA, UCHL1
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| Genetics of Parkinson disease: paradigm shifts and future prospects.
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| Farrer MJ.
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| Nat Rev Genet 7(4):306-18. 2006
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7 | DYT3
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| Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.
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| Nolte D, Niemann S, Muller U.
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| Proc Natl Acad Sci U S A 100(18):10347-52. Epub 2003 Aug 19. 2003
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8 | DYT3, OGT, MED12
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| Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism.
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| Nemeth AH, et al.
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| Genomics 60(3):320-9 1999
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9 | DYT1, DYT3, PNKD, TOR1A
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| The dystonias.
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| Jarman PR, et al.
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| J Med Genet 35 : 314-318. 1998
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10 | DYT3, DXS7111, DXS7112, DXS7113, DXS7114, DXS7115, DXS7116, DXS7117, DXS7118, DXS7119, DXS7120, DXS7121, DXS7122, DXS7123
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| Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.
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| Haberhausen G, et al.
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| Am J Hum Genet 57 : 644-650 1995
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11 | DYT3
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| DXS106 and DXS559 flank the X-linked Dystonia-Parkinsonism syndrome locus (DYT3).
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| Mller U, et al.
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| Genomics 23 : 114-117. 1994
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12 | DYT3
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| Dystonia-Parkinsonism syndrome (XDP) locus : flanking markers in Xq12-q21.1.
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| Kupke KG, et al.
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| Am J Hum Genet 50 : 808-815. 1992
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13 | DYT3
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| Delineation of the dystonia-parkinsonism syndrome locus in Xq13.
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| Graeber MB, et al.
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| Proc Natl Acad Sci U S A 89 : 8245-8248. 1992
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14 | DYT3
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| Genetic mapping of Lubag (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome.
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| Wilhelmsen KC, et al.
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| Ann Neurol 29 : 124-131. 1991
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15 | DYT3
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| Assignment by linkage of the X-linked torsion dystonia locus (XLTD) to proximal Xq.
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| Kupke KG, et al.
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| Am J Hum Genet 47 : A225. 1990
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16 | DYT3
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| X-linked recessive torsion dystonia in the Philippines.
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| Kupke KG, et al.
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| Am J Med Genet 36 : 237-242. 1990
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