Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation

por Shen, Cunzhou, Xian, Wenbiao, Zhou, Hongyan, Li, Xunhua, Liang, Xiuling, Chen, Ling
Publicado en Front Neurol (2018)

Clinical and Physiological Significance of F-Wave in Spinocerebellar Ataxia Type 3

por Cai, Qiong, Xu, Wenxiao, Liao, Songjie, Liang, Yinxing, Wu, Chao, Li, Xunhua
Publicado en Front Neurol (2020)

Co‐occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades

por Wu, Chao, Cai, Qiong, You, Huajing, Zhou, Xiangxue, Chen, Dingbang, Mo, Guiling, Li, Xunhua
Publicado en Mol Genet Genomic Med (2019)

Clinical efficacy of combined sodium dimercaptopropanesulfonate and zinc treatment in neurological Wilson’s disease with D-penicillamine treatment failure

por Chen, Dingbang, Zhou, Xiangxue, Hou, Haiman, Feng, Li, Liu, JunXiu, Liang, Yinyin, Lin, Xiaopu, Zhang, Jiwei, Wu, Chao, Liang, Xiuling, Pei, Zhong, Li, Xunhua
Publicado en Ther Adv Neurol Disord (2016)

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly...

por Banerjee, Santasree, Chen, Huishuang, Huang, Hui, Wu, Jing, Yang, Zhiyun, Deng, Weiping, Chen, Dongna, Deng, Jianlian, Su, Yan, Li, Yang, Wu, Chao, Wang, Ye, Zeng, Hao, Wang, Yiming, Li, Xunhua
Publicado en Oncotarget (2016)