Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.

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第一作者： Adrian J,Waite

第一单位： Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cathays, Cardiff, UK. Electronic address: waitea@cf.ac.uk.

作者： Adrian J,Waite ^[1] ; Dirk,Bäumer ^[2] ; Simon,East ^[2] ; James,Neal ^[3] ; Huw R,Morris ^[4] ; Olaf,Ansorge ^[2] ; Derek J,Blake ^[5]

作者单位： Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cathays, Cardiff, UK. Electronic address: waitea@cf.ac.uk. ^[1] Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK. ^[2] Department of Pathology, School of Medicine, Cardiff University, Cardiff, UK. ^[3] Department of Clinical Neuroscience, UCL Institute of Neurology, Royal Free Hospital, London, UK. ^[4] Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cathays, Cardiff, UK. ^[5]

关键词 Amyotrophic lateral sclerosis C9orf72 Frontotemporal dementia Frontotemporal lobar degeneration Repeat expansion Southern blotting