Literature DB >> 14509676

Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?

Masaya Segawa1, Yoshiko Nomura, Shoko Yukishita, Nobuyoshi Nishiyama, Masayuki Yokochi.   

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Year:  2004        PMID: 14509676

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


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  4 in total

Review 1.  Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Authors:  Susanne A Schneider; Roy N Alcalay
Journal:  Mov Disord       Date:  2017-11       Impact factor: 10.338

Review 2.  Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics.

Authors:  Philippe A Salles; Mérida Terán-Jimenez; Alvaro Vidal-Santoro; Pedro Chaná-Cuevas; Marcelo Kauffman; Alberto J Espay
Journal:  Neurol Clin Pract       Date:  2021-12

3.  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

4.  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

  4 in total

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