Literature DB >> 14509665

Update on dopa-responsive dystonia: locus heterogeneity and biochemical features.

Yoshiaki Furukawa1.   

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Year:  2004        PMID： 14509665

Source DB:  PubMed          Journal:  Adv Neurol        ISSN： 0091-3952


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  10 in total

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2.  Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

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3.  Basal ganglia dopamine loss due to defect in purine recycling.

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4.  A new tyrosine hydroxylase genotype with orofacial dyskinaesia.

Authors:  Ahood M Al-Muslamani; Fouad Ali; Fatima Mahmood
Journal:  Sultan Qaboos Univ Med J       Date:  2014-07-24

5.  Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

Authors:  C Wider; S Melquist; M Hauf; A Solida; S A Cobb; J M Kachergus; J Gass; K D Coon; M Baker; A Cannon; D A Stephan; D F Schorderet; J Ghika; P R Burkhard; G Kapatos; M Hutton; M J Farrer; Z K Wszolek; F J G Vingerhoets
Journal:  Neurology       Date:  2007-09-05       Impact factor: 9.910

6.  GCH1 expression in human cerebellum from healthy individuals is not gender dependent.

Authors:  Christian Wider; Sarah Lincoln; Justus C Dachsel; Gregory Kapatos; Michael G Heckman; Nancy N Diehl; Spiridon Papapetropoulos; Deborah Mash; Alex Rajput; Ali H Rajput; Dennis W Dickson; Zbigniew K Wszolek; Matthew J Farrer
Journal:  Neurosci Lett       Date:  2009-06-30       Impact factor: 3.046

7.  Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.

Authors:  Lihua Yu; Huayong Zhou; Fayun Hu; Yanming Xu
Journal:  Eur J Hum Genet       Date:  2012-12-05       Impact factor: 4.246

8.  Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia.

Authors:  Kenta Sato; Chiho Sumi-Ichinose; Ryuji Kaji; Kazuhisa Ikemoto; Takahide Nomura; Ikuko Nagatsu; Hiroshi Ichinose; Masayuki Ito; Wataru Sako; Shinji Nagahiro; Ann M Graybiel; Satoshi Goto
Journal:  Proc Natl Acad Sci U S A       Date:  2008-08-19       Impact factor: 11.205

Review 9.  Genetics of monoamine neurotransmitter disorders.

Authors:  Wai-Kwan Siu
Journal:  Transl Pediatr       Date:  2015-04

Review 10.  The genetics of dystonia: new twists in an old tale.

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Journal:  Brain       Date:  2013-06-17       Impact factor: 13.501
  10 in total

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