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Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy
BACKGROUND: CSF1R-related leukoencephalopathy, also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), is a rare white-matter encephalopathy characterized by motor and neuropsychiatric symptoms due to colony-stimulating factor 1 receptor (CSF1R) gene mutation. Few of CSF1R mutati...
Autores principales: | Tian, Wo-Tu, Zhan, Fei-Xia, Liu, Qing, Luan, Xing-Hua, Zhang, Chao, Shang, Liang, Zhang, Ben-Yan, Pan, Si-Jian, Miao, Fei, Hu, Jiong, Zhong, Ping, Liu, Shi-Hua, Zhu, Ze-Yu, Zhou, Hai-Yan, Sun, Suya, Liu, Xiao-Li, Huang, Xiao-Jun, Jiang, Jing-Wen, Ma, Jian-Fang, Wang, Ying, Chen, Shu-Fen, Tang, Hui-Dong, Chen, Sheng-Di, Cao, Li |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886209/ https://www.ncbi.nlm.nih.gov/pubmed/31827782 http://dx.doi.org/10.1186/s40035-019-0171-y |
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