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Journal of neurology. 2025 Mar 26;272(4):293. doi: 10.1007/s00415-025-12990-9 Q14.62025

Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism

C9ORF72重复长度在进行性核上性麻痹，皮质基底综合症，皮质基底退化和非典型帕金森病中的分析 翻译改进

David P Vaughan  1  2, Raquel Real  1  2, Marte Theilmann Jensen  1  2, Riona G Fumi  1  2, Megan Hodgson  1  2, Edwin Jabbari  1  2, Danielle Lux  1  2, Lesley Wu  1  2; PROSPECT consortium; MD-GAP; Thomas T Warner  1  2, Zane Jaunmuktane  2  3, Tamas Revesz  3  4, James B Rowe  5, Jonathan Rohrer  6, Huw R Morris  7  8

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作者单位

  • 1 Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • 2 Movement Disorders Centre, UCL Queen Square Institute of Neurology, London, UK.
  • 3 Queen Square Brain Bank, Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK.
  • 4 Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, UK.
  • 5 Department of Clinical Neurosciences, Cambridge University Hospitals NHS Trust, and MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK.
  • 6 Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
  • 7 Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK. h.morris@ucl.ac.uk.
  • 8 Movement Disorders Centre, UCL Queen Square Institute of Neurology, London, UK. h.morris@ucl.ac.uk.

    • DOI: 10.1007/s00415-025-12990-9 PMID: 40138021

    摘要 Ai翻译

    Background: Pathogenic hexanucleotide repeat expansions in C9orf72 are the commonest genetic cause of frontotemporal dementia and/or amyotrophic lateral sclerosis. There is growing interest in intermediate repeat expansions in C9orf72 and their relationship to a wide range of neurological presentations, including Alzheimer's disease, Parkinson's disease, progressive supranuclear palsy, corticobasal degeneration, and cortico... ...

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    期刊名：Journal of neurology

    缩写：J NEUROL

    ISSN：0340-5354

    e-ISSN：1432-1459

    IF/分区：4.6/Q1

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    Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism