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Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
Lynch, David S; Zhang, Wei Jia; Lakshmanan, Rahul; Kinsella, Justin A; Uzun, Günes Altiokka; Karbay, Merih; Tüfekçioglu, Zeynep; Hanagasi, Hasmet; Burke, Georgina; Foulds, Nicola; Hammans, Simon R; Bhattacharjee, Anupam; Wilson, Heather; Adams, Matthew; Walker, Mark; Nicoll, James A R; Chataway, Jeremy; Fox, Nick; Davagnanam, Indran; Phadke, Rahul; Houlden, Henry.
Afiliação
  • Lynch DS; Department of Molecular Neuroscience, University College London Institute of Neurology, London, England2The Leonard Wolfson Experimental Neurology Centre, University College London Institute of Neurology, London, England.
  • Zhang WJ; Department of Molecular Neuroscience, University College London Institute of Neurology, London, England3Department of Neurology, Royal Free Hospital, London, England.
  • Lakshmanan R; Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London, England.
  • Kinsella JA; Dementia Research Centre, Department of Neurodegeneration, The National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, England6University College Dublin, Department of Neurology, St Vincent's University Hospital, Dublin, Ireland.
  • Uzun GA; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Karbay M; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Tüfekçioglu Z; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Hanagasi H; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Burke G; Department of Neurology, Queen Alexandra Hospital, Portsmouth, England9Wessex Neurological Centre, University Hospital Southampton, Southampton, England.
  • Foulds N; Wessex Clinical Genetics Services, Princess Anne Hospital, Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, England.
  • Hammans SR; Department of Neurology, Queen Alexandra Hospital, Portsmouth, England.
  • Bhattacharjee A; Department of Neurology, Royal Free Hospital, London, England.
  • Wilson H; Department of Neurology, Royal Free Hospital, London, England.
  • Adams M; Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London, England.
  • Walker M; Clinical Neurosciences, Clinical & Experimental Sciences, University of Southampton, Department of Cellular Pathology, Southampton General Hospital, Southampton, England.
  • Nicoll JA; Clinical Neurosciences, Clinical & Experimental Sciences, University of Southampton, Department of Cellular Pathology, Southampton General Hospital, Southampton, England.
  • Chataway J; Department of Neuroinflammation, University College London Institute of Neurology, London, England.
  • Fox N; Dementia Research Centre, Department of Neurodegeneration, The National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, England.
  • Davagnanam I; Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London, England.
  • Phadke R; Division of Neuropathology and Department of Neurodegenerative Disease, The National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, England.
  • Houlden H; Department of Molecular Neuroscience, University College London Institute of Neurology, London, England14Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, England.
JAMA Neurol ; 73(12): 1433-1439, 2016 Dec 01.
Article em En | MEDLINE | ID: mdl-27749956
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Microglia / Alanina-tRNA Ligase / Leucoencefalopatias Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: JAMA Neurol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Microglia / Alanina-tRNA Ligase / Leucoencefalopatias Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: JAMA Neurol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos