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Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn, Maike F; Glöckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hörtnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Jörg B; Claeys, Kristl G; Gess, Burkhard; Katona, Istvan; Ferbert, Andreas; Vittore, Debora; Grimm, Alexander; Wolking, Stefan; Schöls, Ludger; Lerche, Holger; Korenke, G Christoph; Fischer, Dirk; Schrank, Bertold; Kotzaeridou, Urania; Kurlemann, Gerhard; Dräger, Bianca; Schirmacher, Anja; Young, Peter; Schlotter-Weigel, Beate; Biskup, Saskia.
Afiliação
  • Dohrn MF; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Glöckle N; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Mulahasanovic L; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Heller C; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Mohr J; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Bauer C; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Riesch E; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Becker A; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Battke F; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Hörtnagel K; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Hornemann T; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  • Suriyanarayanan S; Institute for Clinical Chemistry, University Hospital Zürich, Zurich, Switzerland.
  • Blankenburg M; Institute for Clinical Chemistry, University Hospital Zürich, Zurich, Switzerland.
  • Schulz JB; Department of Pediatric Neurology Klinikum Stuttgart, Olgahospital, Stuttgart, Germany.
  • Claeys KG; Faculty of Health, Witten/Herdecke University, Witten, Germany.
  • Gess B; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Katona I; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany.
  • Ferbert A; Department of Neurology, University Hospitals Leuven and University of Leuven (KU Leuven), Leuven, Belgium.
  • Vittore D; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Grimm A; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Wolking S; Department of Neurology, Klinikum Kassel, Kassel, Germany.
  • Schöls L; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany.
  • Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany.
  • Korenke GC; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany.
  • Fischer D; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany.
  • Schrank B; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany.
  • Kotzaeridou U; Department of Neuropediatrics, Children's Hospital Oldenburg, Oldenburg, Germany.
  • Kurlemann G; Department of Neurology, University of Basel Hospital, Basel, Switzerland.
  • Dräger B; Department of Neurology, Deutsche Klinik für Diagnostik, Wiesbaden, Germany.
  • Schirmacher A; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.
  • Young P; Department of Neuropediatrics, University Hospital Münster, Muenster, Germany.
  • Schlotter-Weigel B; Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Münster, Muenster, Germany.
  • Biskup S; Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Münster, Muenster, Germany.
J Neurochem ; 143(5): 507-522, 2017 12.
Article em En | MEDLINE | ID: mdl-28902413
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Predisposição Genética para Doença / Doenças Raras / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Neurochem Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Predisposição Genética para Doença / Doenças Raras / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Neurochem Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido