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Updated: Sep 16, 2025

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
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韩国神经内核包容性疾病的不同临床表型

Min Young Chun1,2,3, Sang Won Seo1,4,5,6, Hyemin Jang1,7

  • 1Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Journal of clinical neurology (Seoul, Korea)
|July 10, 2025
PubMed
概括

神经内核包容性疾病 (NIID) 是一种进展性神经退行性疾病. 这项研究详细介绍了韩国NIID患者的各种临床,放射和遗传发现,确定NOTCH2NLC中的GGC重复扩张是关键的遗传原因.

关键词:
在NOTCH2NLC中GGC重复扩张.韩国队列 韩国队列临床现象型临床现象型基因病理学发现 基因病理学发现神经元内核包容性疾病是神经元内核包容性疾病.

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