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Monogenic variants in dystonia: an exome-wide sequencing study.
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvánek, 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; Fecíková, Anna; Havránková, Petra; Roth, Jan; Príhodová, Iva; Adamovicová, Miriam; Ulmanová, Olga; Bechyne, Karel; Danhofer, Pavlína; Veselý, Branislav; Han, 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; Svantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan.
Afiliação
  • 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.
  • Skorvánek M; Department of Neurology, Pavol Jozef Safárik University, Kosice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Kosice, 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.
  • Fecíková 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.
  • Príhodová I; Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Adamovicová 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.
  • Bechyne 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.
  • Han V; Department of Neurology, Pavol Jozef Safárik University, Kosice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Kosice, Slovakia.
  • Pavelekova P; Department of Neurology, Pavol Jozef Safárik University, Kosice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Kosice, Slovakia.
  • Gdovinová Z; Department of Neurology, Pavol Jozef Safárik University, Kosice, Slovakia; Department of Neurology, University Hospital of Louis Pasteur, Kosice, 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.
  • Svantnerová 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.
Lancet Neurol ; 19(11): 908-918, 2020 11.
Article em En | MEDLINE | ID: mdl-33098801
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Distonia / Exoma / Sequenciamento do Exoma Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Distonia / Exoma / Sequenciamento do Exoma Idioma: En Ano de publicação: 2020 Tipo de documento: Article