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Neuropediatrics, Table of Contents
Neuropediatrics 2018; 49(05): 330-338
DOI: 10.1055/s-0038-1661396
Original Article
Georg Thieme Verlag KG Stuttgart · New York

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

Authors

  • Bader Alhaddad   *

    1   Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany

  • Anna Schossig   *

    2   Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

  • Tobias B. Haack

    1   Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
    3   Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
    4   Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany

  • Reka Kovács-Nagy

    1   Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany

  • Matthias C. Braunisch

    1   Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
    5   Department of Nephrology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany

  • Christine Makowski

    6   Department of Pediatrics, Technische Universität München (TUM), Munich, Germany

  • Jan Senderek

    7   Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University Munich, Munich, Germany

  • Katharina Vill

    8   Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany

  • Wolfgang Müller-Felber

    8   Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany

  • Tim M. Strom

    1   Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
    3   Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany

  • Birgit Krabichler

    2   Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

  • Peter Freisinger

    9   Department of Pediatrics, Kreisklinken Reutlingen, Reutlingen, Germany

  • Charu Deshpande

    10   Department of Clinical Genetics, Guy's Hospital, London, United Kingdom

  • Tilman Polster

    11   Department of Pediatric Epileptology, Bethel Epilepsy Centre, Bielefeld, Germany

  • Nicole I. Wolf

    12   Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Centre, Amsterdam, The Netherlands

  • Isabelle Desguerre

    13   Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France

  • Friedrich Wörmann

    11   Department of Pediatric Epileptology, Bethel Epilepsy Centre, Bielefeld, Germany

  • Agnès Rötig

    14   INSERM U1163, Institut Imagine, Université Paris Descartes, Paris, France

  • Uwe Ahting

    1   Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany

  • Robert Kopajtich

    1   Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
    3   Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany

  • Holger Prokisch

    1   Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
    3   Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany

  • Thomas Meitinger

    1   Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
    3   Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany

  • René G. Feichtinger

    15   Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria

  • Johannes A. Mayr

    15   Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria

  • Heinz Jungbluth

    16   Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom
    17   Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, United Kingdom
    18   Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, United Kingdom

  • Michael Hubmann

    19   Department of Neuropediatrics, Kinderärzte Zirndorf, Zirndorf, Germany

  • Johannes Zschocke

    2   Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

  • Felix Distelmaier   *

    20   Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany

  • Johannes Koch   *

    15   Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria
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