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A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.
Ricketts, Thomas; McGoldrick, Philip; Fratta, Pietro; de Oliveira, Hugo M; Kent, Rosie; Phatak, Vinaya; Brandner, Sebastian; Blanco, Gonzalo; Greensmith, Linda; Acevedo-Arozena, Abraham; Fisher, Elizabeth M C.
  • Ricketts T; MRC Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom ; Department of Neurodegenerative Diseases and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
  • McGoldrick P; Sobell Department of Motor Neuroscience and Movement Disorders and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
  • Fratta P; Department of Neurodegenerative Diseases and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
  • de Oliveira HM; MRC Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom.
  • Kent R; MRC Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom.
  • Phatak V; MRC Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom.
  • Brandner S; Department of Neurodegenerative Diseases and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
  • Blanco G; Biology Department, University of York, York, United Kingdom.
  • Greensmith L; Sobell Department of Motor Neuroscience and Movement Disorders and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
  • Acevedo-Arozena A; MRC Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom.
  • Fisher EM; MRC Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom ; Department of Neurodegenerative Diseases and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
PLoS One ; 9(1): e85962, 2014.
Article en En | MEDLINE | ID: mdl-24465814

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Empalme Alternativo / Codón sin Sentido / Proteínas de Unión al ADN / Miembro Posterior Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals Idioma: En Año: 2014 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Empalme Alternativo / Codón sin Sentido / Proteínas de Unión al ADN / Miembro Posterior Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals Idioma: En Año: 2014 Tipo del documento: Article