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Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
O'Connor, Emily; Töpf, Ana; Müller, Juliane S; Cox, Daniel; Evangelista, Teresinha; Colomer, Jaume; Abicht, Angela; Senderek, Jan; Hasselmann, Oswald; Yaramis, Ahmet; Laval, Steven H; Lochmüller, Hanns.
Afiliación
  • O'Connor E; 1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
  • Töpf A; 1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
  • Müller JS; 2 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Cox D; 1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
  • Evangelista T; 1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
  • Colomer J; 3 Neuromuscular Unit, Neurology Department, Fundación Sant Joan de Déu, Hospital Materno-Infantil Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat, Barcelona, Spain.
  • Abicht A; 4 Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany.
  • Senderek J; 4 Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany.
  • Hasselmann O; 5 Children's Hospital of Eastern Switzerland, Department of Neuropediatrics, Claudiusstrasse 6, 9006 St. Gallen, Switzerland.
  • Yaramis A; 6 Paediatric Neurology Unit, Diyarbakir Memorial Hospital, Turkey.
  • Laval SH; 1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
  • Lochmüller H; 1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK Hanns.Lochmuller@ncl.ac.uk.
Brain ; 139(Pt 8): 2143-53, 2016 08.
Article en En | MEDLINE | ID: mdl-27259756
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miosinas / Síndromes Miasténicos Congénitos / Exoma / Unión Neuromuscular Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miosinas / Síndromes Miasténicos Congénitos / Exoma / Unión Neuromuscular Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido