A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia

By Rosa Anna   Carducci Carla   Antonozzi Italo   Giovanniello Teresa   Xhoxhi Evgjeni   Criscuolo Chiara   Menchise Valeria   Striano Salvatore   Filla Alessandro   Michele Giuseppe  

Journal of Neurology, Vol. 254, Iss. 8, 2007-08 ,pp. : 1133-1134

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Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

By Steinberger Daniela   Trübenbach Jutta   Zirn Birgit   Leube Barbara   Wildhardt Gabriele   Müller Ulrich  

Neurogenetics, Vol. 8, Iss. 1, 2007-01 ,pp. : 51-55

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Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

By Steinberger Daniela   Trübenbach Jutta   Zirn Birgit   Leube Barbara   Wildhardt Gabriele   Müller Ulrich  

Neurogenetics, Vol. 8, Iss. 1, 2007-01 ,pp. : 69-69

Springer Publishing Company

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Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

By Steinberger Daniela   Blau Nenad   Goriuonov Dimitri   Bitsch Juliane   Zuker Michael   Hummel Sibylla   Müller Ulrich  

Neurogenetics, Vol. 5, Iss. 3, 2004-09 ,pp. : 187-190

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Striatal dopaminergic system in dopa-responsive dystonia: a multi-tracer PET study shows increased D2 receptors

By Rinne J. O.   Iivanainen M.   Metsähonkala L.   Vainionpää L.   Pääkkönen L.   Någren K.   Helenius H.  

Journal of Neural Transmission, Vol. 111, Iss. 1, 2004-01 ,pp. : 59-67

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