Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort

Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder associated with GGC repeats of >60 to 500 copies in the 5'-untranslated region of NOTCH2NLC. The clinical and genetic characterization of NIID outside of East Asia remains unknown. We identified twelve patients wh...

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Bibliographic Details
Main Authors: Chen, Zhiyong, Xu, Zheyu, Cheng, Qianhui, Tan, Jayne Yi, Ong, Helen L., Zhao, Yi, Lim, Weng Khong, Teo, Jing Xian, Foo, Jia Nee, Lee, Hwei Yee, Tan, Jeanne M. M., Hang, Liting, Yu, Wai-Yung, Ting, Simon K. S., Tan, Eng-King, Lim, Tchoyoson C. C., Ng, Adeline S. L.
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Journal Article
Language:English
Published: 2021
Subjects:
Science::Medicine
Diffusion-weighted Imaging
GGC Repeat Expansion
Online Access:https://hdl.handle.net/10356/152268

Internet

https://hdl.handle.net/10356/152268

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