Monogenic variants in dystonia: an exome-wide sequencing study
Monogenic variants in dystonia: an exome-wide sequencing study
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Author / Creator
Zech, Michael , Jech, Robert , Boesch, Sylvia , Škorvánek, Matej , Weber, Sandrina , Wagner, Matias , Zhao, Chen , Jochim, Angela , Necpál, Ján , Vill, Katharina , Stoklosa, Malgorzata , Krenn, Martin , Grunwald, Stephan , Bock-Bierbaum, Tobias , Fečíková, Anna , Roth, Jan , Příhodová, Iva , Adamovičová, Miriam , Ulmanová, Olga , Bechyně, Karel , Danhofer, Pavlína , Veselý, Branislav , Haň, Vladimír , Gdovinová, Zuzana , Mantel, Tobias , Meindl, Tobias , Sitzberger, Alexandra , Schröder, Sebastian , Blaschek, Astrid , Roser, Timo , Bonfert, Michaela V , Haberlandt, Edda , Plecko, Barbara , Berweck, Steffen , Herberhold, Thomas , Langguth, Berthold , Švantnerová, Jana , Minár, Michal , Ramos-Rivera, Gonzalo Alonso , Wojcik, Monica H , Pajusalu, Sander , Õunap, Katrin , Pölsler, Laura , Milenkovic, Ivan , Laccone, Franco , Pilshofer, Veronika , Colombo, Roberto , Patzer, Steffi , Iuso, Arcangela , Vera, Julia , Troncoso, Monica , Fang, Fang , Wilbert, Friederike , Eckenweiler, Matthias , Graf, Elisabeth , Westphal, Dominik S , Riedhammer, Korbinian M , Alhaddad, Bader , Berutti, Riccardo , Strom, Tim M , Hecht, Martin , Baumann, Matthias , Wolf, Marc , Telegrafi, Aida , Person, Richard E , Zamora, Francisca Millan , Henderson, Lindsay B , 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 , Hackenberg, Annette , Steinfeld, Robert , Assmann, Birgit , Staufner, Christian , Opladen, Thomas , Růžička, Evžen , Cohn, Ronald D , Dyment, David , Chung, Wendy K , Engels, Hartmut , Ploski, Rafal , Daumke, Oliver , Haslinger, Bernhard , Mall, Volker , Oexle, Konrad and Winkelmann, Juliane
Publisher
England: Elsevier Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: Elsevier Ltd
Subjects
More information
Scope and Contents
Contents
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 in...
Alternative Titles
Full title
Monogenic variants in dystonia: an exome-wide sequencing study
Authors, Artists and Contributors
Author / Creator
Jech, Robert
Boesch, Sylvia
Škorvánek, Matej
Weber, Sandrina
Wagner, Matias
Zhao, Chen
Jochim, Angela
Necpál, Ján
Vill, Katharina
Stoklosa, Malgorzata
Krenn, Martin
Grunwald, Stephan
Bock-Bierbaum, Tobias
Fečíková, Anna
Roth, Jan
Příhodová, Iva
Adamovičová, Miriam
Ulmanová, Olga
Bechyně, Karel
Danhofer, Pavlína
Veselý, Branislav
Haň, Vladimír
Gdovinová, Zuzana
Mantel, Tobias
Meindl, Tobias
Sitzberger, Alexandra
Schröder, Sebastian
Blaschek, Astrid
Roser, Timo
Bonfert, Michaela V
Haberlandt, Edda
Plecko, Barbara
Berweck, Steffen
Herberhold, Thomas
Langguth, Berthold
Švantnerová, Jana
Minár, Michal
Ramos-Rivera, Gonzalo Alonso
Wojcik, Monica H
Pajusalu, Sander
Õunap, Katrin
Pölsler, Laura
Milenkovic, Ivan
Laccone, Franco
Pilshofer, Veronika
Colombo, Roberto
Patzer, Steffi
Iuso, Arcangela
Vera, Julia
Troncoso, Monica
Fang, Fang
Wilbert, Friederike
Eckenweiler, Matthias
Graf, Elisabeth
Westphal, Dominik S
Riedhammer, Korbinian M
Alhaddad, Bader
Berutti, Riccardo
Strom, Tim M
Hecht, Martin
Baumann, Matthias
Wolf, Marc
Telegrafi, Aida
Person, Richard E
Zamora, Francisca Millan
Henderson, Lindsay B
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
Hackenberg, Annette
Steinfeld, Robert
Assmann, Birgit
Staufner, Christian
Opladen, Thomas
Růžička, Evžen
Cohn, Ronald D
Dyment, David
Chung, Wendy K
Engels, Hartmut
Ploski, Rafal
Daumke, Oliver
Haslinger, Bernhard
Mall, Volker
Oexle, Konrad
Winkelmann, Juliane
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8246240
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8246240
Other Identifiers
ISSN
1474-4422
E-ISSN
1474-4465
DOI
10.1016/S1474-4422(20)30312-4
