CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy‐like Phenotype

著录项

• 来源
  《Movement disorders》 |2022年第7期|1555-1557|共3页
• 作者

  Ramita Dewan; Zane Jaunmuktane; Monica Emili Garcia‐SeguraCatherine StrandEdward WildJoaquin VillarClifton L. DalgardSarah J. TabriziBryan J. TraynorChristos Proukakis;

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• 作者单位

  Neuromuscular Disease Research Section, Laboratory of Neurogenetics,National Institute on Aging;

  Department of Clinical and Movement Neurosciences,Queen Square Institute of Neurology, UCL;

  Queen Square Brain Bank, UCLHuntington's Disease Centre, Queen Square Institute of Neurology, UCLDepartment of Anatomy, Physiology, and Genetics,Uniformed Services University of the Health SciencesCenter for Military Precision Medicine,Uniformed Services University of the Health Sciences;

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• 收录信息
• 原文格式 PDF
• 正文语种 英语
• 中图分类 神经病学;
• 关键词

  Huntington's disease; PSP; CAG repeat; mosaicism; TDP‐43; somatic instability;