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SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Park, Julien H; Elpers, Christiane; Reunert, Janine; McCormick, Michael L; Mohr, Julia; Biskup, Saskia; Schwartz, Oliver; Rust, Stephan; Grüneberg, Marianne; Seelhöfer, Anja; Schara, Ulrike; Boltshauser, Eugen; Spitz, Douglas R; Marquardt, Thorsten.
Afiliação
  • Park JH; Department of General Paediatrics, University of Münster, Münster, Germany.
  • Elpers C; Department of General Paediatrics, University of Münster, Münster, Germany.
  • Reunert J; Department of General Paediatrics, University of Münster, Münster, Germany.
  • McCormick ML; Free Radical and Radiation Biology Program, Department of Radiation Oncology, Holden Comprehensive Cancer Center, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa, USA.
  • Mohr J; CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Biskup S; CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Schwartz O; Department of General Paediatrics, University of Münster, Münster, Germany.
  • Rust S; Department of General Paediatrics, University of Münster, Münster, Germany.
  • Grüneberg M; Department of General Paediatrics, University of Münster, Münster, Germany.
  • Seelhöfer A; Department of General Paediatrics, University of Münster, Münster, Germany.
  • Schara U; Department of Paediatric Neurology, University Hospital Essen, Essen, Germany.
  • Boltshauser E; Department of Paediatric Neurology, University Children's Hospital, Zürich, Switzerland.
  • Spitz DR; Free Radical and Radiation Biology Program, Department of Radiation Oncology, Holden Comprehensive Cancer Center, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa, USA.
  • Marquardt T; Department of General Paediatrics, University of Münster, Münster, Germany.
Brain ; 142(8): 2230-2237, 2019 08 01.
Article em En | MEDLINE | ID: mdl-31332433

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Heredodegenerativos do Sistema Nervoso / Superóxido Dismutase-1 Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Heredodegenerativos do Sistema Nervoso / Superóxido Dismutase-1 Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido