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

• Zech M Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Jech R Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
• Boesch S Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
• Škorvánek M Department of Neurology, Pavol Jozef Šafárik University, Košice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Košice, Slovakia.
• Weber S Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Wagner M Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Zhao C Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
• Jochim A Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
• Necpál J Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.
• Dincer Y Lehrstuhl für Sozialpädiatrie, Technical University of Munich, Munich, Germany; Zentrum für Humangenetik und Laboratoriumsdiagnostik, Martinsried, Germany.
• Vill K Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
• Distelmaier F Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany.
• Stoklosa M Department of Neonatology, Clinical Hospital No 2, Rzeszow, Poland.
• Krenn M Institute of Human Genetics, Technical University of Munich, Munich, Germany; Department of Neurology, Medical University of Vienna, Vienna, Austria.
• Grunwald S Crystallography, Max Delbrück Center for Molecular Medicine, Berlin, Germany; Institute of Chemistry and Biochemistry, Free University of Berlin, Berlin, Germany.
• Bock-Bierbaum T Crystallography, Max Delbrück Center for Molecular Medicine, Berlin, Germany; Institute of Chemistry and Biochemistry, Free University of Berlin, Berlin, Germany.
• Fečíková A Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
• Havránková P Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
• Roth J Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
• Příhodová I Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
• Adamovičová M Department of Paediatric Neurology, Thomayer Hospital, Prague, Czech Republic.
• Ulmanová O Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
• Bechyně K Department of Neurology, Hospital Písek, Pisek, Czech Republic.
• Danhofer P Department of Child Neurology, Faculty of Medicine of Masaryk University Brno and University Hospital, Brno, Czech Republic.
• Veselý B Department of Neurology, Faculty Hospital, Constantine the Philosopher University, Nitra, Slovakia.
• Haň V Department of Neurology, Pavol Jozef Šafárik University, Košice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Košice, Slovakia.
• Pavelekova P Department of Neurology, Pavol Jozef Šafárik University, Košice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Košice, Slovakia.
• Gdovinová Z Department of Neurology, Pavol Jozef Šafárik University, Košice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Košice, Slovakia.
• Mantel T Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
• Meindl T Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
• Sitzberger A Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
• Schröder S Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
• Blaschek A Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
• Roser T Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
• Bonfert MV Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
• Haberlandt E Clinic for Pediatrics, Krankenhaus Stadt Dornbirn, Dornbirn, Austria.
• Plecko B Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.
• Leineweber B Sozialpädiatrisches Zentrum, Klinikum Dritter Orden, Munich, Germany.
• Berweck S Ludwig-Maximilians-Universität München, Munich, Germany; Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany.
• Herberhold T Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany.
• Langguth B Department of Psychiatry and Psychotherapy, University of Regensburg, Regensburg, Germany.
• Švantnerová J Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia.
• Minár M Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia.
• Ramos-Rivera GA Department of Pediatric Neurology, National Institute of Children's Diseases, Bratislava, Slovakia.
• Wojcik MH Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Pajusalu S Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, University of Tartu, Tartu, Estonia; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
• Õunap K Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, University of Tartu, Tartu, Estonia.
• Schatz UA Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
• Pölsler L Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
• Milenkovic I Department of Neurology, Medical University of Vienna, Vienna, Austria.
• Laccone F Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
• Pilshofer V Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria.
• Colombo R Fondazione Policlinico Universitario A Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
• Patzer S Klinik für Kinder-und Jugendmedizin St Elisabeth und St Barbara, Halle, Germany.
• Iuso A Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Vera J Child Neurology Service, Hospital San Borja Arriarán, University of Chile, Santiago, Chile.
• Troncoso M Child Neurology Service, Hospital San Borja Arriarán, University of Chile, Santiago, Chile.
• Fang F Department of Neurology, National Center for Children's Health, Beijing Children's Hospital and Capital Medical University, Beijing, China.
• Prokisch H Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Wilbert F Department of Neuropediatrics and Muscle Disorders, University Medical Center, University of Freiburg, Freiburg im Breisgau, Germany.
• Eckenweiler M Department of Neuropediatrics and Muscle Disorders, University Medical Center, University of Freiburg, Freiburg im Breisgau, Germany.
• Graf E Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Westphal DS Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Riedhammer KM Institute of Human Genetics, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
• Brunet T Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Alhaddad B Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Berutti R Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Strom TM Institute of Human Genetics, Technical University of Munich, Munich, Germany.
• Hecht M Neurologische Klinik am Klinikum Kaufbeuren, Bezirkskliniken Schwaben, Kaufbeuren, Germany.
• Baumann M Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria.
• Wolf M Neurologische Klinik, Klinikum Stuttgart, Stuttgart, Germany; Neurologische Klinik, Universitätsmedizin Mannheim, Mannheim, University of Heidelberg, Mannheim, Germany.
• Telegrafi A GeneDx, Gaithersburg, MD, USA.
• Person RE GeneDx, Gaithersburg, MD, USA.
• Zamora FM GeneDx, Gaithersburg, MD, USA.
• Henderson LB GeneDx, Gaithersburg, MD, USA.
• Weise D Klinik für Neurologie, Asklepios Fachklinikum Stadtroda, Stadtroda, Germany.
• Musacchio T Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
• Volkmann J Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
• Szuto A Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
• Becker J Institute of Human Genetics, University of Bonn and University Hospital Bonn, Bonn, Germany.
• Cremer K Institute of Human Genetics, University of Bonn and University Hospital Bonn, Bonn, Germany.
• Sycha T Department of Neurology, Medical University of Vienna, Vienna, Austria.
• Zimprich F Department of Neurology, Medical University of Vienna, Vienna, Austria.
• Kraus V Department of Paediatrics, School of Medicine, Technical University of Munich, Munich, Germany.
• Makowski C Department of Paediatrics, School of Medicine, Technical University of Munich, Munich, Germany.
• Gonzalez-Alegre P Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
• Bardakjian TM Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.
• Ozelius LJ Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.
• Vetro A Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
• Guerrini R Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
• Maier E Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
• Borggraefe I Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
• Kuster A Inborn Errors of Metabolism, Pediatric Intensive Care Unit, University Hospital of Nantes, Nantes, France.
• Wortmann SB Institute of Human Genetics, Technical University of Munich, Munich, Germany; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, Netherlands.
• Hackenberg A Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland.
• Steinfeld R Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland.
• Assmann B Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.
• Staufner C Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.
• Opladen T Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.
• Růžička E Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
• Cohn RD Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada; Hospital for Sick Children Research Institute, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
• Dyment D Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
• Chung WK Department of Pediatrics and Department of Medicine, Columbia University, New York, NY, USA.
• Engels H Institute of Human Genetics, University of Bonn and University Hospital Bonn, Bonn, Germany.
• Ceballos-Baumann A Schön Klinik München Schwabing, Munich, Germany.
• Ploski R Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
• Daumke O Crystallography, Max Delbrück Center for Molecular Medicine, Berlin, Germany; Institute of Chemistry and Biochemistry, Free University of Berlin, Berlin, Germany.
• Haslinger B Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
• Mall V Lehrstuhl für Sozialpädiatrie, Technical University of Munich, Munich, Germany; kbo-Kinderzentrum München, Munich, Germany.
• Oexle K Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
• Winkelmann J Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address: juliane.winkelmann@tum.de.

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Adolescent

Child

Child, Preschool

Dystonia

Exome

Female

Genetic Variation

Humans

Infant

Infant, Newborn

Male

Pedigree

Whole Exome Sequencing

Young Adult