1. Zhao Y, Yan C, Ji K*. Ultrasonography of muscle vibration caused by mybpc1 variant. JAMA neurology. 2023 Jul 1;80(7):757 (IF 28.5,中科院一区,神经病学顶刊)
2. Ji K, Ren H, Zhao X, Yan C. Migratory rolandic encephalopathy caused by the mitochondrial nd3 mutation. Neurology. 2022 Jan 11;98(2):80-81 (IF 11.6,中科院一区,医学1区TOP)
3. Ji K, Lin Y, Xu X, Wang W, Wang D, Zhang C, Li W, Zhao Y, Yan C. Melas-associated m.5541c>t mutation caused instability of mitochondrial trna(trp) and remarkable mitochondrial dysfunction. J Med Genet. 2022 Jan;59(1):79-87 (IF 7.2,中科院一区)
4. Ji K, Zheng J, Lv J, Xu J, Ji X, Luo YB, Li W, Zhao Y, Yan C. Skeletal muscle increases fgf21 expression in mitochondrial disorders to compensate for energy metabolic insufficiency by activating the mtor-yy1-pgc1alpha pathway. Free radical biology & medicine. 2015;84:161-170 (IF 7.89,中科院一区)
5. Lyu J, Zhao Y, Zhang N, Xu X, Zheng R, Yu W, Xin W, Yan C, Ji K*. Bezafibrate rescues mitochondrial encephalopathy in mice via induction of daily torpor and hypometabolic state. Neurotherapeutics. 2022 Apr;19(3):994-1006 (IF 7.49,中科院二区)
6. Ji K, Zhao B, Lin Y, Wang W, Liu F, Li W, Zhao Y, Yan C. "Myo-neuropathy" is commonly associated with mitochondrial trna(lysine) mutation. J Neurol. 2020;267:3319-3328 (IF 5.59,中科院二区)
7. Ji K, Wang W, Lin Y, Xu X, Liu F, Wang D, Zhao Y, Yan C. Mitochondrial encephalopathy due to a novel pathogenic mitochondrial trna(gln) m.4349c>t variant. Ann Clin Transl Neurol. 2020;7:980-991 (IF 5,中科院二区)
8. Wang W, Zhao Y, Xu X, Ma X, Sun Y, Lin Y, Zhao Y, Xu Z, Wang J, Ren H, Wang B, Zhao D, Wang D, Liu F, Li W, Yan C, Ji K*. A different pattern of clinical, muscle pathology and brain mri findings in melas with mt-nd variants. Ann Clin Transl Neurol. 2023 (IF 5,中科院二区)
9. Ji X, Zhao L, Ji K#, Zhao Y, Li W, Zhang R, Hou Y, Lu J, Yan C. Growth differentiation factor 15 is a novel diagnostic biomarker of mitochondrial diseases. Molecular neurobiology. 2017;54:8110-8116 (IF 5.1,中科院二区)
10. Lin Y, Xu X, Zhao D, Liu F, Luo Y, Du J, Wang D, Ji K*, Zhao Y, Yan C. A novel m.11406 t > a mutation in mitochondrial nd4 gene causes melas syndrome. Mitochondrion. 2020;54:57-64 (IF 4.3,中科院三区)
11. Lin Y, Xu X, Wang W, Liu F, Zhao D, Li D, Ji K*, Li W, Zhao Y, Yan C. A mitochondrial myopathy-associated trna(ser(ucn)) 7453g>a mutation alters trna metabolism and mitochondrial function. Mitochondrion. 2020;57:1-8 (IF 4.3,中科院三区)
12. Wang W, Sun Y, Lin Y, Xu X, Zhao D, Ji K*, Li W, Zhao Y, Yan C. A novel nonsense variant in mt-co3 causes melas syndrome. Neuromuscul Disord. 2021;31:558-565 (IF 3.4,中科院三区)
13. Zhao Y, Lin Y, Wang B, Liu F, Zhao D, Wang W, Ren H, Wang J, Xu Z, Yan C, Ji K*. A missense variant in aifm1 caused mitochondrial dysfunction and intolerance to riboflavin deficiency. Neuromolecular medicine. 2023 Aug 21. doi: 10.1007 (IF 3.9,中科院三区)
14. Ji K, Zheng J, Sun B, Liu F, Shan J, Li D, Luo YB, Zhao Y, Yan C. Novel mitochondrial c15620a variant may modulate the phenotype of mitochondrial g11778a mutation in a chinese family with leigh syndrome. Neuromolecular medicine. 2014;16:119-126 (IF 3.9,中科院三区)