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Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Rodríguez Cruz, Pedro M; Belaya, Katsiaryna; Basiri, Keivan; Sedghi, Maryam; Farrugia, Maria Elena; Holton, Janice L; Liu, Wei Wei; Maxwell, Susan; Petty, Richard; Walls, Timothy J; Kennett, Robin; Pitt, Matthew; Sarkozy, Anna; Parton, Matt; Lochmüller, Hanns; Muntoni, Francesco; Palace, Jacqueline; Beeson, David.
Afiliação
  • Rodríguez Cruz PM; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
  • Belaya K; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Basiri K; Neurology Department, Neuroscience Research Centre, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Sedghi M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Farrugia ME; Department of Neurology, Institute of Neurological Sciences, The Queen Elizabeth University Hospital, Glasgow, UK.
  • Holton JL; Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
  • Liu WW; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Maxwell S; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Petty R; Department of Neurology, Institute of Neurological Sciences, The Queen Elizabeth University Hospital, Glasgow, UK.
  • Walls TJ; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
  • Kennett R; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
  • Pitt M; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Sarkozy A; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
  • Parton M; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
  • Lochmüller H; Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Muntoni F; Dubowitz Neuromuscular Centre & MRC Centre for Neuromuscular Diseases, UCL Institute of Child Health, London, UK.
  • Palace J; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
  • Beeson D; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
J Neurol Neurosurg Psychiatry ; 87(8): 802-9, 2016 08.
Article em En | MEDLINE | ID: mdl-27147698
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas / Nucleotidiltransferases Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas / Nucleotidiltransferases Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido