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Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga, Alejandro; Laurà, Matilde; Jaunmuktane, Zane; Jerath, Nivedita U; Gonzalez, Michael A; Polke, James M; Poh, Roy; Blake, Julian C; Liu, Yo-Tsen; Wiethoff, Sarah; Bettencourt, Conceição; Lunn, Michael Pt; Manji, Hadi; Hanna, Michael G; Houlden, Henry; Brandner, Sebastian; Züchner, Stephan; Shy, Michael; Reilly, Mary M.
  • Horga A; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
  • Laurà M; Department of Neurology, Hospital Clinico Universitario San Carlos, Madrid, Spain.
  • Jaunmuktane Z; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
  • Jerath NU; UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.
  • Gonzalez MA; Division of Neuropathology and Department of Neurodegenerative Disease, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London, UK.
  • Polke JM; Department of Neurology, University of Iowa, Iowa City, Iowa, USA.
  • Poh R; Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
  • Blake JC; The Genesis Project Foundation, The Genesis Project Foundation, Miami, Florida, USA.
  • Liu YT; Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London, UK.
  • Wiethoff S; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Bettencourt C; Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London, UK.
  • Lunn MP; Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery (and Norfolk and Norwich University Hospital), London, UK.
  • Manji H; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
  • Hanna MG; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Brandner S; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Züchner S; Department of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.
  • Shy M; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
  • Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
J Neurol Neurosurg Psychiatry ; 88(7): 575-585, 2017 07.
Article en En | MEDLINE | ID: mdl-28501821
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas de Neurofilamentos / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas de Neurofilamentos / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2017 Tipo del documento: Article