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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.
Affiliation
  • 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 de En | MEDLINE | ID: mdl-25952333
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladies du pharynx / Protéines de liaison à l'ARN / Maladies du motoneurone / Protéines associées à la matrice nucléaire / Dysfonction des cordes vocales Limites: Adult / Aged / Female / Humans / Male / Middle aged Langue: En Journal: J Neurol Neurosurg Psychiatry Année: 2016 Type de document: Article Pays d'affiliation: Finlande Pays de publication: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladies du pharynx / Protéines de liaison à l'ARN / Maladies du motoneurone / Protéines associées à la matrice nucléaire / Dysfonction des cordes vocales Limites: Adult / Aged / Female / Humans / Male / Middle aged Langue: En Journal: J Neurol Neurosurg Psychiatry Année: 2016 Type de document: Article Pays d'affiliation: Finlande Pays de publication: Royaume-Uni