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NOTCH2NLC expanded GGC repeats in patients with cerebral small vessel disease
OBJECTIVE: GGC repeat expansions in the human-specific NOTCH2NLC gene have been reported as the cause of neuronal intranuclear inclusion disease (NIID). Given the clinical overlap of cognitive impairment in NIID and cerebral small vessel disease (CSVD), both diseases have white matter hyperintensity...
Autores principales: | Wang, Yun-chao, Fan, Yu, Yu, Wen-Kai, Shen, Si, Li, Jia-Di, Gao, Yuan, Ji, Yan, Li, Yu-Sheng, Yu, Lu-Lu, Zhao, Zi-Chen, Li, Shan-Shan, Ding, Yao, Shi, Chang-He, Xu, Yu-ming |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176980/ https://www.ncbi.nlm.nih.gov/pubmed/36207023 http://dx.doi.org/10.1136/svn-2022-001631 |
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