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Neurogenetics
Original Article
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

Authors

  • Benjamin Roeben Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany PubMed articlesGoogle scholar articles
  • Rebecca Schüle Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany PubMed articlesGoogle scholar articles
  • Susanne Ruf Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital Tübingen, Tübingen, Germany PubMed articlesGoogle scholar articles
  • Benjamin Bender Department of Neuroradiology, University of Tübingen, Tübingen, Baden-Württemberg, Germany PubMed articlesGoogle scholar articles
  • Bader Alhaddad Institute of Human Genetics, Technische Universität München, Munich, Germany PubMed articlesGoogle scholar articles
  • Tanja Benkert Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articlesGoogle scholar articles
  • Thomas Meitinger Institute of Human Genetics, Technische Universität München, Munich, Germany Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany PubMed articlesGoogle scholar articles
  • Selina Reich Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany PubMed articlesGoogle scholar articles
  • Judith Böhringer Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital Tübingen, Tübingen, Germany PubMed articlesGoogle scholar articles
  • Claus-Dieter Langhans Division of Neuropediatrics and Pediatric Metabolic Medicine, University Children’s Hospital Heidelberg, Heidelberg, Germany PubMed articlesGoogle scholar articles
  • Frédéric M Vaz Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, Noord Holland, The Netherlands PubMed articlesGoogle scholar articles
  • Saskia B Wortmann Institute of Human Genetics, Technische Universität München, Munich, Germany Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria PubMed articlesGoogle scholar articles
  • Thorsten Marquardt Department of Pediatrics, University Hospital of Muenster, Muenster, Germany PubMed articlesGoogle scholar articles
  • Tobias B Haack Institute of Human Genetics, Technische Universität München, Munich, Germany Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany PubMed articlesGoogle scholar articles
  • Ingeborg Krägeloh-Mann Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital Tübingen, Tübingen, Germany PubMed articlesGoogle scholar articles
  • Ludger Schöls Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany PubMed articlesGoogle scholar articles
  • Matthis Synofzik Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Matthis Synofzik, Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain, Research, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany; matthis.synofzik{at}uni-tuebingen.de
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Citation

Roeben B, Schüle R, Ruf S, et al
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
Journal of Medical Genetics 2018;55:39-47.

Publication history

  • Received February 22, 2017
  • Revised August 24, 2017
  • Accepted August 31, 2017
  • First published September 15, 2017.
Online issue publication 
June 15, 2020

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.