| Issue Date | Title | Author(s) |
| Mar-2020 | Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay | Wei, Xiujuan; Du, Miaomiao; Xie, Jie; Luo, Ting; Zhou, Yan; Zhang, Kun; Li, Jin; Chen, Deyu; Xu, Pu; Jia, Manli; Zhou, Huaibin; Fang, Hezhi; Lyu, Jianxin; Yang, Yanling |
| Nov-2020 | A novel mitochondrial m.14430A > G (MT-ND6, p.W82R) variant causes complex I deficiency and mitochondrial Leigh syndrome | Du, Miaomiao; Wei, Xiujuan; Xu, Pu; Xie, Anran; Zhou, Xiyue; Yang, Yanling; Li, Dongxiao; Lyu, Jianxin; Fang, Hezhi |
| 2017 | Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome | Xu, Bing; Li, Xiyuan; Du, Miaomiao; Zhou, Chao; Fang, Hezhi; Lyu, Jianxin; Yang, Yanling |
| 2-Mar-2022 | SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA | Fang, Hezhi; Xie, Anran; Du, Miaomiao; Li, Xueyun; Yang, Kaiqiang; Fu, Yinxu; Yuan, Xiangshu; Fan, Runxiao; Yu, Weidong; Zhou, Zhuohua; Sang, Tiantian; Nie, Ke; Li, Jin; Zhao, Qiongya; Chen, Zhehui; Yang, Yanling; Hong, Chaoyang; Lyu, Jianxin |
| 2018 | SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences | Li, Yuanyuan; Wen, Shumeng; Li, Dongxiao; Xie, Jie; Wei, Xiujuan; Li, Xiyuan; Liu, Yi; Fang, Hezhi; Yang, Yanling; Lyu, Jianxin |
| Mar-2020 | Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency | Chen, Deyu; Zhao, Qiongya; Xiong, Jingting; Lou, Xiaoting; Han, Qinxia; Wei, Xiujuan; Xie, Jie; Li, Xueyun; Zhou, Huaibin; Shen, Lijun; Yang, Yanling; Fang, Hezhi; Lyu, Jianxin |
