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Monogenic variants in dystonia: an exome-wide sequencing study

Zech, Michael ; Jech, Robert ; Boesch, Sylvia ; Škorvánek, Matej ; Weber, Sandrina ; Wagner, Matias ; Zhao, Chen ; Jochim, Angela ; Necpál, Ján ; Dincer, Yasemin ; Vill, Katharina ; Distelmaier, Felix ; Stoklosa, Malgorzata ; Krenn, Martin ; Grunwald, Stephan ; Bock-Bierbaum, Tobias ; Fečíková, Anna ; Havránková, Petra ; Roth, Jan ; Příhodová, Iva ; Adamovičová, Miriam ; Ulmanová, Olga ; Bechyně, Karel ; Danhofer, Pavlína ; Veselý, Branislav ; Haň, Vladimír ; Pavelekova, Petra ; Gdovinová, Zuzana ; Mantel, Tobias ; Meindl, Tobias ; Sitzberger, Alexandra ; Schröder, Sebastian ; Blaschek, Astrid ; Roser, Timo ; Bonfert, Michaela V. ; Haberlandt, Edda ; Plecko, Barbara ; Leineweber, Birgit ; Berweck, Steffen ; Herberhold, Thomas ; Langguth, Berthold ; Švantnerová, Jana ; Minár, Michal ; Ramos-Rivera, Gonzalo Alonso ; Wojcik, Monica H. ; Pajusalu, Sander ; Õunap, Katrin ; Schatz, Ulrich A. ; Pölsler, Laura ; Milenkovic, Ivan ; Laccone, Franco ; Pilshofer, Veronika ; Colombo, Roberto ; Patzer, Steffi ; Iuso, Arcangela ; Vera, Julia ; Troncoso, Monica ; Fang, Fang ; Prokisch, Holger ; Wilbert, Friederike ; Eckenweiler, Matthias ; Graf, Elisabeth ; Westphal, Dominik S. ; Riedhammer, Korbinian M. ; Brunet, Theresa ; Alhaddad, Bader ; Berutti, Riccardo ; Strom, Tim M. ; Hecht, Martin ; Baumann, Matthias ; Wolf, Marc ; Telegrafi, Aida ; Person, Richard E. ; Zamora, Francisca Millan ; Henderson, Lindsay B. ; Weise, David ; Musacchio, Thomas ; Volkmann, Jens ; Szuto, Anna ; Becker, Jessica ; Cremer, Kirsten ; Sycha, Thomas ; Zimprich, Fritz ; Kraus, Verena ; Makowski, Christine ; Gonzalez-Alegre, Pedro ; Bardakjian, Tanya M. ; Ozelius, Laurie J. ; Vetro, Annalisa ; Guerrini, Renzo ; Maier, Esther ; Borggraefe, Ingo ; Kuster, Alice ; Wortmann, Saskia B. ; Hackenberg, Annette ; Steinfeld, Robert ; Assmann, Birgit ; Staufner, Christian ; Opladen, Thomas ; Růžička, Evžen ; Cohn, Ronald D. ; Dyment, David ; Chung, Wendy K. ; Engels, Hartmut ; Ceballos-Baumann, Andres ; Ploski, Rafal ; Daumke, Oliver ; Haslinger, Bernhard ; Mall, Volker ; Oexle, Konrad ; Winkelmann, Juliane



Abstract

Background Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined dystonia with other neurological involvement). However, our understanding of its aetiology is still incomplete. We aimed to elucidate the ...

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