Literature DB >> 25433916

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Joanne Terbeek1, Sylvia Hermans1, Koen Van Laere2, Wim Vandenberghe3.   

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Year:  2014        PMID： 25433916      PMCID： PMC5963399          DOI： 10.1093/brain/awu324

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  13 in total

1.  Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one?

Authors:  Roberto Ceravolo; Valentina Nicoletti; Barbara Garavaglia; Chiara Reale; Lorenzo Kiferle; Ubaldo Bonuccelli
Journal:  Neurology       Date:  2013-06-14       Impact factor: 9.910

2.  Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Authors:  J L K Van Hove; J Steyaert; G Matthijs; E Legius; P Theys; R Wevers; A Romstad; L B Møller; K Hedrich; D Goriounov; N Blau; C Klein; P Casaer
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-01       Impact factor: 10.154

3.  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

4.  Hereditary dystonia and parkinsonism: two sides of the same coin?

Authors:  Anne Weissbach; Christine Klein
Journal:  Brain       Date:  2014-09       Impact factor: 13.501

5.  Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report.

Authors:  Carsten Eggers; Alexander E Volk; Deniz Kahraman; Gereon R Fink; Barbara Leube; Matthias Schmidt; Lars Timmermann
Journal:  Parkinsonism Relat Disord       Date:  2011-10-24       Impact factor: 4.891

6.  Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

Authors:  Lena Elisabeth Hjermind; Lis Gitte Johannsen; Nenad Blau; Ron Allan Wevers; Christoph-Burkhard Lucking; Jens Michael Hertz; Lars Friberg; Lisbeth Regeur; Jørgen Erik Nielsen; Sven Asger Sørensen
Journal:  Mov Disord       Date:  2006-05       Impact factor: 10.338

7.  Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.

Authors:  Akio Kikuchi; Atsushi Takeda; Kazuo Fujihara; Teiko Kimpara; Yusei Shiga; Hiroaki Tanji; Makiko Nagai; Hiroshi Ichinose; Fumi Urano; Nobuyuki Okamura; Hiroyuki Arai; Yasuto Itoyama
Journal:  Mov Disord       Date:  2004-05       Impact factor: 10.338

8.  Long-term follow-up of levodopa responsiveness in generalized dystonia.

Authors:  R B Dewey; M D Muenter; A Kishore; B J Snow
Journal:  Arch Neurol       Date:  1998-10

Review 9.  The genetics of dystonia: new twists in an old tale.

Authors:  Gavin Charlesworth; Kailash P Bhatia; Nicholas W Wood
Journal:  Brain       Date:  2013-06-17       Impact factor: 13.501

10.  Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Authors:  Niccolò E Mencacci; Ioannis U Isaias; Martin M Reich; Christos Ganos; Vincent Plagnol; James M Polke; Jose Bras; Joshua Hersheson; Maria Stamelou; Alan M Pittman; Alastair J Noyce; Kin Y Mok; Thomas Opladen; Erdmute Kunstmann; Sybille Hodecker; Alexander Münchau; Jens Volkmann; Samuel Samnick; Katie Sidle; Tina Nanji; Mary G Sweeney; Henry Houlden; Amit Batla; Anna L Zecchinelli; Gianni Pezzoli; Giorgio Marotta; Andrew Lees; Paulo Alegria; Paul Krack; Florence Cormier-Dequaire; Suzanne Lesage; Alexis Brice; Peter Heutink; Thomas Gasser; Steven J Lubbe; Huw R Morris; Pille Taba; Sulev Koks; Elisa Majounie; J Raphael Gibbs; Andrew Singleton; John Hardy; Stephan Klebe; Kailash P Bhatia; Nicholas W Wood
Journal:  Brain       Date:  2014-07-02       Impact factor: 13.501
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  2 in total

1.  Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Authors:  Niccolo E Mencacci; Alan M Pittman; Ioannis U Isaias; John Hardy; Stephan Klebe; Kailash P Bhatia; Nicholas W Wood
Journal:  Brain       Date:  2014-11-14       Impact factor: 13.501

2.  Guanosine-5'-triphosphate cyclohydrolase 1 regulated long noncoding RNAs are potential targets for microglial activation in neuropathic pain.

Authors:  Yan-Hu Liang; Guo-Wu Chen; Xue-Song Li; Shu Jia; Chun-Yang Meng
Journal:  Neural Regen Res       Date:  2021-03       Impact factor: 5.135
  2 in total

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