Literature DB >> 21674621

Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.

Nutan Sharma, Ioanna A Armata, Trisha J Multhaupt-Buell, Laurie J Ozelius, Winnie Xin, Katherine B Sims.   

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Year:  2011        PMID： 21674621      PMCID： PMC3175261          DOI： 10.1002/mds.23786

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

1.  Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Authors:  J Tassin; A Dürr; A M Bonnet; R Gil; M Vidailhet; C B Lücking; J Y Goas; F Durif; M Abada; B Echenne; J Motte; A Lagueny; L Lacomblez; P Jedynak; B Bartholomé; Y Agid; A Brice
Journal:  Brain       Date:  2000-06       Impact factor: 13.501

2.  Hereditary progressive dystonia with marked diurnal fluctuation.

Authors:  M Segawa; A Hosaka; F Miyagawa; Y Nomura; H Imai
Journal:  Adv Neurol       Date:  1976

Review 3.  Dopa-responsive dystonia.

Authors:  T G Nygaard; C D Marsden; R C Duvoisin
Journal:  Adv Neurol       Date:  1988

4.  Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Authors:  Nutan Sharma; Ramon A Franco; John K Kuster; Adele A Mitchell; Tania Fuchs; Rachel Saunders-Pullman; Deborah Raymond; Mitchell F Brin; Andrew Blitzer; Susan B Bressman; Laurie J Ozelius
Journal:  Mov Disord       Date:  2010-10-15       Impact factor: 10.338

5.  Dopa-responsive dystonia: a clinical and molecular genetic study.

Authors:  O Bandmann; E M Valente; P Holmans; R A Surtees; J H Walters; R A Wevers; C D Marsden; N W Wood
Journal:  Ann Neurol       Date:  1998-10       Impact factor: 10.422
  5 in total
  2 in total

Review 1.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

2.  Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.

Authors:  Ioanna A Armata; Leonora Balaj; John K Kuster; Xuan Zhang; Shelun Tsai; Andreas A Armatas; Trisha J Multhaupt-Buell; Roy Soberman; Xandra O Breakefield; Hiroshi Ichinose; Nutan Sharma
Journal:  PLoS One       Date:  2013-10-04       Impact factor: 3.240
  2 in total

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