Literature DB >> 25416181

Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.

Yoshiaki Furukawa1, Stephen J Kish2.   

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Year:  2014        PMID: 25416181      PMCID: PMC5963400          DOI: 10.1093/brain/awu325

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


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  14 in total

1.  Can SPET imaging of dopamine uptake sites replace PET imaging in Parkinson's disease? For.

Authors:  Klaus Tatsch
Journal:  Eur J Nucl Med Mol Imaging       Date:  2002-03-23       Impact factor: 9.236

2.  An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.

Authors:  Thomas Opladen; Georg F Hoffmann; Nenad Blau
Journal:  J Inherit Metab Dis       Date:  2012-06-23       Impact factor: 4.982

3.  SPECT imaging of the dopamine transporter in juvenile-onset dystonia.

Authors:  J D O'Sullivan; D C Costa; S Gacinovic; A J Lees
Journal:  Neurology       Date:  2001-01-23       Impact factor: 9.910

4.  Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia.

Authors:  Y Furukawa; T G Nygaard; M Gütlich; A H Rajput; C Pifl; L DiStefano; L J Chang; K Price; M Shimadzu; O Hornykiewicz; J W Haycock; S J Kish
Journal:  Neurology       Date:  1999-09-22       Impact factor: 9.910

5.  VMAT2 binding is elevated in dopa-responsive dystonia: visualizing empty vesicles by PET.

Authors:  Raúl De La Fuente-Fernández; Sarah Furtado; Mark Guttman; Yoshiaki Furukawa; Chong S Lee; Donald B Calne; Thomas J Ruth; A Jon Stoessl
Journal:  Synapse       Date:  2003-07       Impact factor: 2.562

6.  Influence of development and aging on brain biopterin: implications for dopa-responsive dystonia onset.

Authors:  Y Furukawa; S J Kish
Journal:  Neurology       Date:  1998-08       Impact factor: 9.910

Review 7.  Neuroimaging findings in children with paediatric neurotransmitter diseases.

Authors:  Wang-Tso Lee; Wen-Chin Weng; Shinn-Forng Peng; Kai-Yuan Tzen
Journal:  J Inherit Metab Dis       Date:  2009-05-20       Impact factor: 4.982

8.  Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.

Authors:  Y Furukawa; S J Kish; E M Bebin; R D Jacobson; J S Fryburg; W G Wilson; M Shimadzu; K Hyland; J M Trugman
Journal:  Ann Neurol       Date:  1998-07       Impact factor: 10.422

9.  Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

Authors:  Roberto Cilia; Chiara Reale; Anna Castagna; Alessia Nasca; Marco Muzi-Falconi; Chiara Barzaghi; Alberto Marzegan; Magda Granata; Giorgio Marotta; Giorgio Sacilotto; Davide Vallauri; Gianni Pezzoli; Stefano Goldwurm; Barbara Garavaglia
Journal:  Neurology       Date:  2014-08-22       Impact factor: 9.910

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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  3 in total

Review 1.  Dopa-responsive dystonia--clinical and genetic heterogeneity.

Authors:  Subhashie Wijemanne; Joseph Jankovic
Journal:  Nat Rev Neurol       Date:  2015-06-23       Impact factor: 42.937

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

  3 in total

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