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Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP.
Nolan, Matthew; Barbagallo, Paola; Turner, Martin R; Keogh, Michael John; Chinnery, Patrick F; Talbot, Kevin; Ansorge, Olaf.
Afiliação
  • Nolan M; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, Oxfordshire, UK.
  • Barbagallo P; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, Oxfordshire, UK.
  • Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, Oxfordshire, UK.
  • Keogh MJ; Biosciences Institute, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
  • Chinnery PF; Department of Clinical Neurosciences, MRC Mitochondrial Biology Unit, Cambridge, Cambridgeshire, UK.
  • Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, Oxfordshire, UK.
  • Ansorge O; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, Oxfordshire, UK olaf.ansorge@ndcn.ox.ac.uk.
J Neurol Neurosurg Psychiatry ; 92(9): 1022-1024, 2021 09.
Article em En | MEDLINE | ID: mdl-33727253

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Proteínas de Ciclo Celular / Esclerose Lateral Amiotrófica / Mutação Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Proteínas de Ciclo Celular / Esclerose Lateral Amiotrófica / Mutação Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2021 Tipo de documento: Article