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Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Zech, Michael; Boesch, Sylvia; Skorvánek, Matej; Necpál, Ján; Svantnerová, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranová, Tereza; Rektorová, Irena; Havránková, Petra; Ganai, Shahzaman; Mosejová, Alexandra; Príhodová, Iva; Sarláková, Jana; Kulcsarová, Kristína; Ulmanová, Olga; Bechyne, Karel; Ostrozovicová, Miriam; Han, Vladimír; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, Tim M; Ceballos-Baumann, Andres; Mall, Volker; Haslinger, Bernhard; Jech, Robert; Winkelmann, Juliane.
Afiliação
  • Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany. Electronic address: michael.zech@mri.tum.de.
  • Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
  • Skorvánek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Necpál J; Department of Neurology, Zvolen Hospital, Slovakia.
  • Svantnerová J; Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia.
  • Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Dincer Y; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany; Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Germany.
  • Sadr-Nabavi A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad, Iran; Academic Center for Education, Culture and Research (ACECR)-Khorasan R
  • Serranová T; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Rektorová I; First Department of Neurology, Faculty of Medicine, St. Anne's University Hospital and CEITEC, Masaryk University, Brno, Czech Republic.
  • Havránková P; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Ganai S; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Mosejová A; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Príhodová I; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Sarláková J; Department of Neurology, University Hospital Hradec Kralove, Hradec Králové, Czech Republic.
  • Kulcsarová K; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Ulmanová O; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Bechyne K; Department of Neurology, Hospital Písek, Písek, Czech Republic.
  • Ostrozovicová M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Han V; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Ventosa JR; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Shariati M; Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad, Iran; Academic Center for Education, Culture and Research (ACECR)-Khorasan Razavi, Mashhad, Iran.
  • Shoeibi A; Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad, Iran.
  • Weber S; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Paracelsus-Elena-Klinik, Kassel, Germany.
  • Mollenhauer B; Paracelsus-Elena-Klinik, Kassel, Germany; Institute of Neuropathology and Department of Neurosurgery, University Medical Center Göttingen, Göttingen, Germany.
  • Trenkwalder C; Paracelsus-Elena-Klinik, Kassel, Germany; Institute of Neuropathology and Department of Neurosurgery, University Medical Center Göttingen, Göttingen, Germany.
  • Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Strom TM; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Ceballos-Baumann A; Schön Klinik München Schwabing, Munich, Germany.
  • Mall V; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany; Kbo-Kinderzentrum München, Munich, Germany.
  • Haslinger B; Klinik und Poliklinik für Neurologie, Klinikum Rechts der Isar, Technische Universität München, Munich, Germany.
  • Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
Parkinsonism Relat Disord ; 84: 129-134, 2021 03.
Article em En | MEDLINE | ID: mdl-33611074
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Distonia / Variações do Número de Cópias de DNA / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Distonia / Variações do Número de Cópias de DNA / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de publicação: Reino Unido