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Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction.
McCombe, Pamela A; Ngo, Shyuan T; Guo, Christine Cong; Fazlollahi, Amir; Bollmann, Saskia; Wang, Liting; Hu, Xintao; Barth, Markus; Salvado, Olivier; Davis, Mark; Ceslis, Amelia; Robinson, Gail; Henderson, Robert D; Steyn, Frederik J.
Afiliação
  • McCombe PA; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia.
  • Ngo ST; Wesley Medical Research, The Wesley Hospital, Brisbane, Auchenflower, Australia.
  • Guo CC; Department of Neurology, Royal Brisbane & Women's Hospital, Herston, Queensland, Australia.
  • Fazlollahi A; School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
  • Bollmann S; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia.
  • Wang L; Wesley Medical Research, The Wesley Hospital, Brisbane, Auchenflower, Australia.
  • Hu X; Department of Neurology, Royal Brisbane & Women's Hospital, Herston, Queensland, Australia.
  • Barth M; Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.
  • Salvado O; Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia.
  • Davis M; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Ceslis A; School of Automation, Northwestern Polytechnical University, Xi'an, China.
  • Robinson G; The Australian E-Health Research Centre, CSIRO Health and Biosecurity, Sydney, Queensland, Australia.
  • Henderson RD; Centre for Advanced Imaging, The University of Queensland, Brisbane, Queensland, Australia.
  • Steyn FJ; School of Automation, Northwestern Polytechnical University, Xi'an, China.
J Neurol Neurosurg Psychiatry ; 90(8): 952-954, 2019 08.
Article em En | MEDLINE | ID: mdl-30196251

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Proteínas Serina-Treonina Quinases / Esclerose Lateral Amiotrófica / Mutação Limite: Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Austrália

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Proteínas Serina-Treonina Quinases / Esclerose Lateral Amiotrófica / Mutação Limite: Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Austrália