Cargando…
Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
Autosomal recessive cerebellar ataxias are a group of neurodegenerative disorders that are characterized by complex clinical and genetic heterogeneity. Although more than 20 disease-causing genes have been identified, many patients are still currently without a molecular diagnosis. In a two-generati...
Autores principales: | Shi, Yuting, Wang, Junling, Li, Jia-Da, Ren, Haigang, Guan, Wenjuan, He, Miao, Yan, Weiqian, Zhou, Ying, Hu, Zhengmao, Zhang, Jianguo, Xiao, Jingjing, Su, Zheng, Dai, Meizhi, Wang, Jun, Jiang, Hong, Guo, Jifeng, Zhou, Yafang, Zhang, Fufeng, Li, Nan, Du, Juan, Xu, Qian, Hu, Yacen, Pan, Qian, Shen, Lu, Wang, Guanghui, Xia, Kun, Zhang, Zhuohua, Tang, Beisha |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846781/ https://www.ncbi.nlm.nih.gov/pubmed/24312598 http://dx.doi.org/10.1371/journal.pone.0081884 |
Ejemplares similares
-
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
por: Duan, Ranhui, et al.
Publicado: (2016) -
Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006) -
Zebrafish Models of Autosomal Recessive Ataxias
por: Quelle-Regaldie, Ana, et al.
Publicado: (2021) -
Systematic review of autosomal recessive ataxias and proposal for a classification
por: Beaudin, Marie, et al.
Publicado: (2017) -
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity
por: Aida, Izumi, et al.
Publicado: (2021)