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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
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