Monogenic variants in dystonia: an exome-wide sequencing study.

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

doi:10.1016/S1474-4422(20)30312-4

Monogenic variants in dystonia: an exome-wide sequencing study.

Michael Zech
, Robert Jech
, Sylvia Boesch
, Matej Škorvánek
, Sandrina Weber
, Matias Wagner
, Chen Zhao
, Angela Jochim
, Ján Necpál
, Yasemin Dincer
, Katharina Vill
, Felix Distelmaier
, Malgorzata Stoklosa
, Martin Krenn
, Stephan Grunwald
, Tobias Bock-Bierbaum
, Anna Fečíková
, Petra Havránková
, Jan Roth
, Iva Příhodová

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

Research output: Contribution to journal › Original Article › peer-review

175 Citations (Web of Science)

Original language	English
Pages (from-to)	908-918
Journal	LANCET NEUROLOGY
Volume	19
Issue number	11
DOIs	https://doi.org/10.1016/S1474-4422(20)30312-4
Publication status	Published - 2020

Keywords

CLASSIFICATION
DISORDER

Access to Document

10.1016/S1474-4422(20)30312-4

Cite this

Zech, M., Jech, R., Boesch, S., Škorvánek, M., Weber, S., Wagner, M., Zhao, C., Jochim, A., Necpál, J., Dincer, Y., Vill, K., Distelmaier, F., Stoklosa, M., Krenn, M., Grunwald, S., Bock-Bierbaum, T., Fečíková, A., Havránková, P., Roth, J., ... Winkelmann, J. (2020). Monogenic variants in dystonia: an exome-wide sequencing study. LANCET NEUROLOGY, 19(11), 908-918. https://doi.org/10.1016/S1474-4422(20)30312-4

@article{d802527939aa4851a32ea71451f5e939,

title = "Monogenic variants in dystonia: an exome-wide sequencing study.",

keywords = "CLASSIFICATION, DISORDER",

author = "Michael Zech and Robert Jech and Sylvia Boesch and Matej {\v S}korv{\'a}nek and Sandrina Weber and Matias Wagner and Chen Zhao and Angela Jochim and J{\'a}n Necp{\'a}l and Yasemin Dincer and Katharina Vill and Felix Distelmaier and Malgorzata Stoklosa and Martin Krenn and Stephan Grunwald and Tobias Bock-Bierbaum and Anna Fe{\v c}{\'i}kov{\'a} and Petra Havr{\'a}nkov{\'a} and Jan Roth and Iva P{\v r}{\'i}hodov{\'a} and Miriam Adamovi{\v c}ov{\'a} and Olga Ulmanov{\'a} and Karel Bechyn{\v e} and Pavl{\'i}na Danhofer and Branislav Vesel{\'y} and Vladim{\'i}r Ha{\v n} and Petra Pavelekova and Zuzana Gdovinov{\'a} and Tobias Mantel and Tobias Meindl and Alexandra Sitzberger and Sebastian Schr{\"o}der and Astrid Blaschek and Timo Roser and Bonfert, \{Michaela V\} and Edda Haberlandt and Barbara Plecko and Birgit Leineweber and Steffen Berweck and Thomas Herberhold and Berthold Langguth and Jana {\v S}vantnerov{\'a} and Michal Min{\'a}r and Ramos-Rivera, \{Gonzalo Alonso\} and Wojcik, \{Monica H\} and Sander Pajusalu and Katrin {\~O}unap and Schatz, \{Ulrich A\} and Laura P{\"o}lsler and Ivan Milenkovic and Franco Laccone and Veronika Pilshofer and Roberto Colombo and Steffi Patzer and Arcangela Iuso and Julia Vera and Monica Troncoso and Fang Fang and Holger Prokisch and Friederike Wilbert and Matthias Eckenweiler and Elisabeth Graf and Westphal, \{Dominik S\} and Riedhammer, \{Korbinian M\} and Theresa Brunet and Bader Alhaddad and Riccardo Berutti and Strom, \{Tim M\} and Martin Hecht and Matthias Baumann and Marc Wolf and Aida Telegrafi and Person, \{Richard E\} and Zamora, \{Francisca Millan\} and Henderson, \{Lindsay B\} and David Weise and Thomas Musacchio and Jens Volkmann and Anna Szuto and Jessica Becker and Kirsten Cremer and Thomas Sycha and Fritz Zimprich and Verena Kraus and Christine Makowski and Pedro Gonzalez-Alegre and Bardakjian, \{Tanya M\} and Ozelius, \{Laurie J\} and Annalisa Vetro and Renzo Guerrini and Esther Maier and Ingo Borggraefe and Alice Kuster and Saskia Wortmann and Annette Hackenberg and Robert Steinfeld and Birgit Assmann and Christian Staufner and Thomas Opladen and Ev{\v z}en Rů{\v z}i{\v c}ka and Cohn, \{Ronald D\} and David Dyment and Chung, \{Wendy K\} and Hartmut Engels and Andres Ceballos-Baumann and Rafal Ploski and Oliver Daumke and Bernhard Haslinger and Volker Mall and Konrad Oexle and Juliane Winkelmann",

note = "Wortmann: University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria; Lehr-KH: Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany; Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria; ",

year = "2020",

doi = "10.1016/S1474-4422(20)30312-4",

language = "English",

volume = "19",

pages = "908--918",

journal = "LANCET NEUROLOGY",

issn = "1474-4422",

publisher = "Elsevier ",

number = "11",

}

Zech, M, Jech, R, Boesch, S, Škorvánek, M, Weber, S, Wagner, M, Zhao, C, Jochim, A, Necpál, J, Dincer, Y, Vill, K, Distelmaier, F, Stoklosa, M, Krenn, M, Grunwald, S, Bock-Bierbaum, T, Fečíková, A, Havránková, P, Roth, J, Příhodová, I, Adamovičová, M, Ulmanová, O, Bechyně, K, Danhofer, P, Veselý, B, Haň, V, Pavelekova, P, Gdovinová, Z, Mantel, T, Meindl, T, Sitzberger, A, Schröder, S, Blaschek, A, Roser, T, Bonfert, MV, Haberlandt, E, Plecko, B, Leineweber, B, Berweck, S, Herberhold, T, Langguth, B, Švantnerová, J, Minár, M, Ramos-Rivera, GA, Wojcik, MH, Pajusalu, S, Õunap, K, Schatz, UA, Pölsler, L, Milenkovic, I, Laccone, F, Pilshofer, V, Colombo, R, Patzer, S, Iuso, A, Vera, J, Troncoso, M, Fang, F, Prokisch, H, Wilbert, F, Eckenweiler, M, Graf, E, Westphal, DS, Riedhammer, KM, Brunet, T, Alhaddad, B, Berutti, R, Strom, TM, Hecht, M, Baumann, M, Wolf, M, Telegrafi, A, Person, RE, Zamora, FM, Henderson, LB, Weise, D, Musacchio, T, Volkmann, J, Szuto, A, Becker, J, Cremer, K, Sycha, T, Zimprich, F, Kraus, V, Makowski, C, Gonzalez-Alegre, P, Bardakjian, TM, Ozelius, LJ, Vetro, A, Guerrini, R, Maier, E, Borggraefe, I, Kuster, A, Wortmann, S, Hackenberg, A, Steinfeld, R, Assmann, B, Staufner, C, Opladen, T, Růžička, E, Cohn, RD, Dyment, D, Chung, WK, Engels, H, Ceballos-Baumann, A, Ploski, R, Daumke, O, Haslinger, B, Mall, V, Oexle, K & Winkelmann, J 2020, 'Monogenic variants in dystonia: an exome-wide sequencing study.', LANCET NEUROLOGY, vol. 19, no. 11, pp. 908-918. https://doi.org/10.1016/S1474-4422(20)30312-4

TY - JOUR

T1 - Monogenic variants in dystonia: an exome-wide sequencing study.

AU - Zech, Michael

AU - Jech, Robert

AU - Boesch, Sylvia

AU - Škorvánek, Matej

AU - Weber, Sandrina

AU - Wagner, Matias

AU - Zhao, Chen

AU - Jochim, Angela

AU - Necpál, Ján

AU - Dincer, Yasemin

AU - Vill, Katharina

AU - Distelmaier, Felix

AU - Stoklosa, Malgorzata

AU - Krenn, Martin

AU - Grunwald, Stephan

AU - Bock-Bierbaum, Tobias

AU - Fečíková, Anna

AU - Havránková, Petra

AU - Roth, Jan

AU - Příhodová, Iva

AU - Adamovičová, Miriam

AU - Ulmanová, Olga

AU - Bechyně, Karel

AU - Danhofer, Pavlína

AU - Veselý, Branislav

AU - Haň, Vladimír

AU - Pavelekova, Petra

AU - Gdovinová, Zuzana

AU - Mantel, Tobias

AU - Meindl, Tobias

AU - Sitzberger, Alexandra

AU - Schröder, Sebastian

AU - Blaschek, Astrid

AU - Roser, Timo

AU - Bonfert, Michaela V

AU - Haberlandt, Edda

AU - Plecko, Barbara

AU - Leineweber, Birgit

AU - Berweck, Steffen

AU - Herberhold, Thomas

AU - Langguth, Berthold

AU - Švantnerová, Jana

AU - Minár, Michal

AU - Ramos-Rivera, Gonzalo Alonso

AU - Wojcik, Monica H

AU - Pajusalu, Sander

AU - Õunap, Katrin

AU - Schatz, Ulrich A

AU - Pölsler, Laura

AU - Milenkovic, Ivan

AU - Laccone, Franco

AU - Pilshofer, Veronika

AU - Colombo, Roberto

AU - Patzer, Steffi

AU - Iuso, Arcangela

AU - Vera, Julia

AU - Troncoso, Monica

AU - Fang, Fang

AU - Prokisch, Holger

AU - Wilbert, Friederike

AU - Eckenweiler, Matthias

AU - Graf, Elisabeth

AU - Westphal, Dominik S

AU - Riedhammer, Korbinian M

AU - Brunet, Theresa

AU - Alhaddad, Bader

AU - Berutti, Riccardo

AU - Strom, Tim M

AU - Hecht, Martin

AU - Baumann, Matthias

AU - Wolf, Marc

AU - Telegrafi, Aida

AU - Person, Richard E

AU - Zamora, Francisca Millan

AU - Henderson, Lindsay B

AU - Weise, David

AU - Musacchio, Thomas

AU - Volkmann, Jens

AU - Szuto, Anna

AU - Becker, Jessica

AU - Cremer, Kirsten

AU - Sycha, Thomas

AU - Zimprich, Fritz

AU - Kraus, Verena

AU - Makowski, Christine

AU - Gonzalez-Alegre, Pedro

AU - Bardakjian, Tanya M

AU - Ozelius, Laurie J

AU - Vetro, Annalisa

AU - Guerrini, Renzo

AU - Maier, Esther

AU - Borggraefe, Ingo

AU - Kuster, Alice

AU - Wortmann, Saskia

AU - Hackenberg, Annette

AU - Steinfeld, Robert

AU - Assmann, Birgit

AU - Staufner, Christian

AU - Opladen, Thomas

AU - Růžička, Evžen

AU - Cohn, Ronald D

AU - Dyment, David

AU - Chung, Wendy K

AU - Engels, Hartmut

AU - Ceballos-Baumann, Andres

AU - Ploski, Rafal

AU - Daumke, Oliver

AU - Haslinger, Bernhard

AU - Mall, Volker

AU - Oexle, Konrad

AU - Winkelmann, Juliane

N1 - Wortmann: University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria; Lehr-KH: Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany; Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria;

PY - 2020

Y1 - 2020

KW - CLASSIFICATION

KW - DISORDER

U2 - 10.1016/S1474-4422(20)30312-4

DO - 10.1016/S1474-4422(20)30312-4

M3 - Original Article

C2 - 33098801

SN - 1474-4422

VL - 19

SP - 908

EP - 918

JO - LANCET NEUROLOGY

JF - LANCET NEUROLOGY

IS - 11

ER -