Found: 3

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  • Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

    Published in:
    Annals of Neurology, 2024, v. 96, n. 4, p. 758, doi. 10.1002/ana.27018
    By:
    • Li, Yun‐Lu;
    • Lin, Jingjing;
    • Huang, Xuejing;
    • Zeng, Rui‐Huang;
    • Zhang, Guangyu;
    • Xu, Jie‐Ni;
    • Lin, Kai‐Jun;
    • Chen, Xin‐Shuo;
    • He, Ming‐Feng;
    • Qiao, Jing‐Da;
    • Cheng, Xuewen;
    • Zhu, Dengna;
    • Xiong, Zhi‐Qi;
    • Chen, Wan‐Jin
    Publication type:
    Article

  • Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.

    Published in:
    Movement Disorders, 2024, v. 39, n. 1, p. 152, doi. 10.1002/mds.29664
    By:
    • Lin, Xiang;
    • Jiang, Jun‐Yi;
    • Hong, Dao‐jun;
    • Lin, Kai‐Jun;
    • Li, Jin‐Jing;
    • Chen, Yi‐Jun;
    • Qiu, Yu‐sen;
    • Wang, Zishuai;
    • Liao, Yi‐Chu;
    • Yang, Kang;
    • Shi, Yan;
    • Wang, Meng‐wen;
    • Hsu, Shao‐Lun;
    • Hong, Shunyan;
    • Zeng, Yi‐Heng;
    • Chen, Xiao‐Chun;
    • Wang, Ning;
    • Lee, Yi‐Chung;
    • Chen, Wan‐Jin
    Publication type:
    Article

  • Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.

    Published in:
    Cell Discovery, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41421-022-00475-2
    By:
    • Zhao, Miao;
    • Su, Hui-Zhen;
    • Zeng, Yi-Heng;
    • Sun, Yuan;
    • Guo, Xin-Xin;
    • Li, Yun-Lu;
    • Wang, Chong;
    • Zhao, Zhi-Yuan;
    • Huang, Xue-Jing;
    • Lin, Kai-Jun;
    • Ye, Zi-Ling;
    • Lin, Bi-Wei;
    • Hong, Shunyan;
    • Zheng, Jitan;
    • Liu, Yao-Bin;
    • Yao, Xiang-Ping;
    • Yang, Dehao;
    • Lu, Ying-Qian;
    • Chen, Hai-Zhu;
    • Zuo, Erwei
    Publication type:
    Article