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PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
Illingworth, M A; Meyer, E; Chong, W K; Manzur, A Y; Carr, L J; Younis, R; Hardy, C; McDonald, F; Childs, A M; Stewart, B; Warren, D; Kneen, R; King, M D; Hayflick, S J; Kurian, M A.
Afiliación
  • Illingworth MA; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Meyer E; Neurosciences Unit, UCL-Institute of Child Health, London, UK.
  • Chong WK; Department of Radiology, Great Ormond Street Hospital, London, UK.
  • Manzur AY; Dubowitz Neuromuscular Centre for Congenital Muscular Dystrophies and Myopathies, Great Ormond Street Hospital, London, UK.
  • Carr LJ; Department of Neurology, Great Ormond Street Hospital, London, UK.
  • Younis R; West Midlands Regional Genetics, Birmingham Women's Hospital, Birmingham, UK.
  • Hardy C; West Midlands Regional Genetics, Birmingham Women's Hospital, Birmingham, UK.
  • McDonald F; West Midlands Regional Genetics, Birmingham Women's Hospital, Birmingham, UK.
  • Childs AM; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.
  • Stewart B; Department of Paediatrics, York Teaching Hospitals NHS Foundation Trust, York, UK.
  • Warren D; Department of Neuroradiology, Leeds teaching Hospitals, Leeds. UK.
  • Kneen R; Department of Neurology, Alder Hey Children's Hospital, Liverpool, UK.
  • King MD; Department of Paediatric Neurology, Children's University Hospital, Temple Street, Dublin, Ireland.
  • Hayflick SJ; Department of Molecular & Medical Genetics, OR Health & Science University, Portland 97239, USA; Department of Paediatrics, OR Health & Science University, Portland 97239, USA; Department of Neurology, OR Health & Science University, Portland 97239, USA.
  • Kurian MA; Department of Neurology, Great Ormond Street Hospital, London, UK; Neurosciences Unit, UCL-Institute of Child Health, London, UK. Electronic address: manju.kurian@ucl.ac.uk.
Mol Genet Metab ; 112(2): 183-9, 2014 Jun.
Article en En | MEDLINE | ID: mdl-24745848
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Neuroaxonales / Fosfolipasas A2 Grupo VI Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2014 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Neuroaxonales / Fosfolipasas A2 Grupo VI Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2014 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos