Cargando…
Three novel mutations in Chinese patients with CSF1R-related leukoencephalopathy
BACKGROUND: CSF1R-related encephalopathy refers to adult-onset leukodystrophy with neuroaxonal spheroids and pigmented glia (ALSP) due to CSF1R mutations, which is a rare autosomal dominant white matter disease including two pathological entities, hereditary diffuse leukoencephalopathy with spheroid...
Autores principales: | Chu, Min, Wang, Dong-Xin, Cui, Yue, Kong, Yu, Liu, Li, Xie, Ke-Xin, Xia, Tian-Xinyu, Zhang, Jing, Gao, Ran, Zhou, Ai-Hong, Wang, Chao-Dong, Wu, Li-Yong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8339872/ https://www.ncbi.nlm.nih.gov/pubmed/34422984 http://dx.doi.org/10.21037/atm-21-217 |
Ejemplares similares
-
Clinical and genetic characterization of adult‐onset leukoencephalopathy caused by CSF1R mutations
por: Tsai, Pei‐Chien, et al.
Publicado: (2021) -
Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy
por: Tian, Wo-Tu, et al.
Publicado: (2019) -
Reply to: Adult‐onset leukoencephalopathy caused by
CSF1R
mutations: Is all that glitters gold?
por: Lee, Yi‐Chung, et al.
Publicado: (2022) -
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function
por: Pridans, Clare, et al.
Publicado: (2013) -
Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy
por: Kondo, Y., et al.
Publicado: (2019)