Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease

BACKGROUND: Abnormal expanded GGC repeats within the NOTCH2HLC gene has been confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear inclusion disease (NIID). This cross-sectional observational study aimed to characterise the clinical features of NOTCH2NLC-related NIID...

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Detalles Bibliográficos
Autores principales: Tian, Yun, Zhou, Lu, Gao, Jing, Jiao, Bin, Zhang, Sizhe, Xiao, Qiao, Xue, Jin, Wang, Ying, liang, Hui, Liu, Yaling, Ji, Guang, Mao, Chenhui, Liu, Caiyan, Dong, Liling, Zhang, Long, Zhang, Shugang, Yi, Jiping, Zhao, Guohua, Luo, Yingying, Sun, Qiying, Zhou, Yafang, Yi, Fang, Chen, Xiaoyu, Zhou, Chaojun, Xie, Nina, Luo, Mengchuan, Yao, Lingyan, Hu, Yacen, Zhang, Mengqi, Zeng, Qiuming, Fang, Liangjuan, Long, Hong-Yu, Xie, Yuanyuan, Weng, Ling, Chen, Si, Du, Juan, Xu, Qian, Feng, Li, Huang, Qing, Hou, Xuan, Wang, Junpu, Xie, Bin, Zhou, Lin, Long, Lili, Guo, Ji-feng, Wang, Junling, Yan, Xinxiang, Jiang, Hong, Xu, Hongwei, Duan, Ranhui, Tang, Beisha, Shen, Lu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685690/
https://www.ncbi.nlm.nih.gov/pubmed/36150844
http://dx.doi.org/10.1136/jnnp-2022-329772

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