1.Lu JL, Dai Y,Ji K(并列一作), Peng GX, Li H, Yan C, Shen B, Zhou XL. Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases.Nucleic Acids Res.2024 Nov 27;52(21):13351-13367. doi: 10.1093/nar/gkae854.PMID: 39380483. (IF16.5)
2.Zhao Y, Xu Z, Yan C,Ji K*. Unraveling the Diagnostic Puzzle: Minor Stroke-Like Lesions and Normal Muscle Histopathology in MELAS Syndrome.Stroke. 2024 Apr;55(4):e127-e130 (IF 8.8,中科院一区)
3.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)
4.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)
5.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 4.9,中科院一区)
6.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)
7.Wang J, Lin Y, Zhuang X, Zhao D, Li B, Zhao Y, Xu Z, Liu F, Dai T, Li W, Jiang M, Yan C, Zhao Y,Ji K. Genotype-Phenotype Correlation in Progressive External Ophthalmoplegia: Insights From a Retrospective Analysis.Neuropathol Appl Neurobiol. 2025 Feb;51(1):e70001. doi: 10.1111/nan.70001. PMID: 39822040.(IF5.1,中科院二区)
8.Lin Y, Wang J, Zhuang X, Zhao Y, Wang W, Wang D, Zhao Y, Yan C,Ji K. Queuine ameliorates impaired mitochondrial function caused by mt-tRNAAsnvariants. J Transl Med. 2024 Aug 22;22(1):780. doi: 10.1186/s12967-024-05574-0. PMID: 39175050; PMCID: PMC11340107. (IF6.2,中科院二区)
9.Lin Y, Wang J, Xu R, Xu Z, Wang Y, Pan S, Zhang Y, Tao Q, Zhao Y, Yan C, Cao Z, Ji K. HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA. BMC Genomics. 2024 Jul 30;25(1):745. doi: 10.1186/s12864-024-10660-0(IF4.1,中科院二区)
10.Lin Y, Wang J, Ren H, Ma X, Wang W, Zhao Y, Xu Z, Liu S, Wang W, Xu X, Wang B, Zhao D, Wang D, Li W, Liu F, Zhao Y, Lu J, Yan C,Ji K*. Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile. J Neurol. 2024 Feb;271(2):864-876. doi: 10.1007/s00415-023-12005-5 (IF 5.59,中科院二区)
11.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. 2023Jun; 10(6):1035-1045. (IF 5,中科院二区)
12.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)
13.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)
14.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 Jun;7(6):980-991.(IF 5,中科院二区)
15.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)