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TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.
Sivakumar, Prasanth; De Giorgio, Francesca; Ule, Agnieszka M; Neeves, Jacob; Nair, Remya R; Bentham, Matthew; Birsa, Nicol; Humphrey, Jack; Plagnol, Vincent; Acevedo-Arozena, Abraham; Cunningham, Thomas J; Fisher, Elizabeth M C; Fratta, Pietro.
Afiliação
  • Sivakumar P; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.
  • De Giorgio F; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.
  • Ule AM; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.
  • Neeves J; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.
  • Nair RR; Mammalian Genetics Unit, MRC Harwell Institute, Oxford, UK.
  • Bentham M; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.
  • Birsa N; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.
  • Humphrey J; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.
  • Plagnol V; University College London Genetics Institute, Gower Street, London, UK.
  • Acevedo-Arozena A; University College London Genetics Institute, Gower Street, London, UK.
  • Cunningham TJ; Unidad de Investigación, Hospital Universitario de Canarias, Fundación Canaria de Investigación Sanitaria and Instituto de Tecnologías Biomédicas, La Laguna, Spain.
  • Fisher EMC; Mammalian Genetics Unit, MRC Harwell Institute, Oxford, UK.
  • Fratta P; Department of Neuromuscular Diseases, Institute of Neurology, Queen Square, University College London, UK.
Brain ; 141(12): e83, 2018 12 01.
Article em En | MEDLINE | ID: mdl-30364928
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribonucleoproteínas Nucleares Heterogêneas Grupo A-B / Esclerose Lateral Amiotrófica Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribonucleoproteínas Nucleares Heterogêneas Grupo A-B / Esclerose Lateral Amiotrófica Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article