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A recessive ataxia diagnosis algorithm for the next generation sequencing era.
Renaud, Mathilde; Tranchant, Christine; Martin, Juan Vicente Torres; Mochel, Fanny; Synofzik, Matthis; van de Warrenburg, Bart; Pandolfo, Massimo; Koenig, Michel; Kolb, Stefan A; Anheim, Mathieu.
Afiliação
  • Renaud M; Department of Neurology, Hautepierre Hospital, University Hospitals of Strasbourg, Strasbourg, France.
  • Tranchant C; Institute of Genetics and Molecular and Cellular Biology, INSERM-U964/CNRS-UMR7104, University of Strasbourg, Illkirch, France.
  • Martin JVT; Strasbourg Federation of Translational Medicine, University of Strasbourg, Strasbourg, France.
  • Mochel F; Department of Neurology, Hautepierre Hospital, University Hospitals of Strasbourg, Strasbourg, France.
  • Synofzik M; Institute of Genetics and Molecular and Cellular Biology, INSERM-U964/CNRS-UMR7104, University of Strasbourg, Illkirch, France.
  • van de Warrenburg B; Strasbourg Federation of Translational Medicine, University of Strasbourg, Strasbourg, France.
  • Pandolfo M; Syntax for Science, Palma, Mallorca, Spain.
  • Koenig M; Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
  • Kolb SA; Neurometabolic GRC, Pierre and Marie Curie University, Paris, France.
  • Anheim M; Neurometabolic Research Group, Pierre and Marie Curie University, Paris, France.
Ann Neurol ; 82(6): 892-899, 2017 Dec.
Article em En | MEDLINE | ID: mdl-29059497
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Algoritmos / Ataxia Cerebelar / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Algoritmos / Ataxia Cerebelar / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article