Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy

著录项

• 来源
  《Neuromuscular disorders: NMD》 |2017年第2期|共2页
• 作者

  Donkervoort S.; Muller J.; Knierim E.; Bharucha-Goebel D.; Dyack S.; Burns D.; Hu Y.; Baker L.; Ezzo D.; Scavina M.; Foley A.; Schulke M.; Bonnemann C.;

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• 作者单位

  NINDS NIH Bethesda MD 20892 USA;

  Newcastle Univ Newcastle Upon Tyne Tyne &

  Wear England;

  Charite Berlin Germany;

  NINDS NIH Bethesda MD 20892 USA;

  Dalhousie Univ Halifax NS Canada;

  Newcastle Univ Newcastle Upon Tyne Tyne &

  Wear England;

  NINDS NIH Bethesda MD 20892 USA;

  AI Pont Hosp Children Wilmington DE USA;

  NINDS NIH Bethesda MD 20892 USA;

  AI Pont Hosp Children Wilmington DE USA;

  NINDS NIH Bethesda MD 20892 USA;

  Charite Berlin Germany;

  NINDS NIH Bethesda MD 20892 USA;

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• 原文格式 PDF
• 正文语种 eng
• 中图分类 神经病学;
• 关键词