Literature DB >> 23771491

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

Roberto Ceravolo1, Valentina Nicoletti, Barbara Garavaglia, Chiara Reale, Lorenzo Kiferle, Ubaldo Bonuccelli.   

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Year:  2013        PMID: 23771491     DOI: 10.1212/WNL.0b013e31829bfd7c

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  4 in total

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

Authors:  Joanne Terbeek; Sylvia Hermans; Koen Van Laere; Wim Vandenberghe
Journal:  Brain       Date:  2014-11-28       Impact factor: 13.501

2.  Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.

Authors:  A J Lewthwaite; T D Lambert; E B Rolfe; S Olgiati; M Quadri; E J Simons; K E Morrison; V Bonifati; D J Nicholl
Journal:  Parkinsonism Relat Disord       Date:  2015-01-14       Impact factor: 4.891

Review 3.  Degradation of Tyrosine Hydroxylase by the Ubiquitin-Proteasome System in the Pathogenesis of Parkinson's Disease and Dopa-Responsive Dystonia.

Authors:  Ichiro Kawahata; Kohji Fukunaga
Journal:  Int J Mol Sci       Date:  2020-05-27       Impact factor: 5.923

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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