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Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.
Palmio, Johanna; Evilä, Anni; Bashir, Ayat; Norwood, Fiona; Viitaniemi, Kati; Vihola, Anna; Huovinen, Sanna; Straub, Volker; Hackman, Peter; Hirano, Michio; Bushby, Kate; Udd, Bjarne.
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  • Palmio J; Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland.
  • Evilä A; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
  • Bashir A; Newcastle University, Newcastle upon Tyne, UK.
  • Norwood F; Department of Neurology, King's College Hospital, London, UK.
  • Viitaniemi K; Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland.
  • Vihola A; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
  • Huovinen S; Department of Pathology, Fimlab Laboratories, Tampere University Hospital, Tampere, Finland.
  • Straub V; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.
  • Hackman P; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
  • Hirano M; Department of Neurology, Columbia University Medical Centre, New York, New York, USA.
  • Bushby K; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.
  • Udd B; Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland Department of Neurology, Vasa Central Hospital,
J Neurol Neurosurg Psychiatry ; 87(4): 448-50, 2016 Apr.
Article en En | MEDLINE | ID: mdl-25952333
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Faríngeas / Proteínas de Unión al ARN / Enfermedad de la Neurona Motora / Proteínas Asociadas a Matriz Nuclear / Disfunción de los Pliegues Vocales Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2016 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Faríngeas / Proteínas de Unión al ARN / Enfermedad de la Neurona Motora / Proteínas Asociadas a Matriz Nuclear / Disfunción de los Pliegues Vocales Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2016 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Reino Unido