Literature DB >> 1975433

Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis.

K G Kupke1, L V Lee, U Müller.   

Abstract

We performed linkage analysis of X-linked torsion dystonia (XLTD) in 7 Filipino families, studying DNA from a total of 36 family members (9 obligate carrier females, and 18 affected and 9 unaffected males). Application of 21 informative X chromosomal DNA sequences allowed assignment of the XLTD locus to the proximal long arm of the X chromosome (Xq21). A maximum LOD score of 3.06 at [symbol: see text] = 0.0 was obtained with DXYS2, previously assigned to Xq21.3.

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Year:  1990        PMID： 1975433     DOI： 10.1212/wnl.40.9.1438

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  7 in total

1.  Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.

Authors:  K G Kupke; M B Graeber; U Müller
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

Review 2.  Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP).

Authors:  L V Lee; E L Munoz; K T Tan; M T Reyes
Journal:  Mol Pathol       Date:  2001-12

Review 3.  Cervical dystonia pathophysiology and treatment options.

Authors:  M Velickovic; R Benabou; M F Brin
Journal:  Drugs       Date:  2001       Impact factor: 9.546

4.  Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.

Authors:  Dagmar Nolte; Stephan Niemann; Ulrich Müller
Journal:  Proc Natl Acad Sci U S A       Date:  2003-08-19       Impact factor: 11.205

5.  Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.

Authors:  G Haberhausen; I Schmitt; A Köhler; U Peters; S Rider; J Chelly; J D Terwilliger; A P Monaco; U Müller
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

Review 6.  X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics.

Authors:  Raymond L Rosales
Journal:  J Mov Disord       Date:  2010-10-30

7.  Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.

Authors:  D Cristopher Bragg; Kotchaphorn Mangkalaphiban; Christine A Vaine; Nichita J Kulkarni; David Shin; Rachita Yadav; Jyotsna Dhakal; Mai-Linh Ton; Anne Cheng; Christopher T Russo; Mark Ang; Patrick Acuña; Criscely Go; Taylor N Franceour; Trisha Multhaupt-Buell; Naoto Ito; Ulrich Müller; William T Hendriks; Xandra O Breakefield; Nutan Sharma; Laurie J Ozelius
Journal:  Proc Natl Acad Sci U S A       Date:  2017-12-11       Impact factor: 11.205
  7 in total

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