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Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes

Mirja Thomsen,Katrin Marth,Sebastian Loens,Judith Everding,Johanna Junker,Friederike Borngraeber,Fabian Ott,Silvia Jesus,Mathias Gelderblom,Thorsten Odorfer,Gregor Kuhlenbaeumer,Han-Joon Kim,Eva Schaeffer,Jos Becktepe,Meike Kasten,Norbert Brueggemann,Robert Pfister,Katja Kollewe,Joachim K. Krauss,Ebba Lohmann,Frauke Hinrichs,Daniela Berg,Beomseok Jeon,Hauke Busch,Eckart Altenmueller,Pablo Mir,Christoph Kamm,Jens Volkmann,Simone Zittel,Andreas Ferbert,Kirsten E. Zeuner,Arndt Rolfs,Peter Bauer,Andrea A. Kuehn,Tobias Baeumer,Christine Klein,Katja Lohmann

Movement Disorders（2024）

Cited 0|Views53
Key words
dystonia,GCH1,GNAL,KMT2B,SGCE,THAP1,TOR1A,PRKRA,monogenic,primary dystonia
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