长期致力于运动障碍性疾病及神经遗传病的临床与基础研究。主持国家自然科学基金青年项目1项（81801125）、上海市“科技创新行动计划”自然科学基金项目1项（23ZR1457800）、国家重点研发计划项目子课题1项（2018YFC1314703）、上海市卫计委卫生行业临床研究专项1项（20184Y0015），获2019年度“上海市青年科技启明星”人才计划。以第一/通讯作者在Movement disorders，Molecular and cellular biology, Human mutation等杂志发表学术论文10余篇。
His main research interests are the clinical and basic research of movement disorders and neurogenetic diseases. He has presided over one project of the National Natural Science Foundation of China (81801125), one project of the Natural Science Foundation of Shanghai (23ZR1457800), one sub-project of the National Key Research and Development Program of China (2018YFC1314703), and one project of the Clinical Research Special Program of Shanghai Municipal Commission of Health and Family Planning (20184Y0015). He was awarded the "Shanghai Science and Technology Committee Rising-Star Program" talent program in 2019. He has published over 10 papers as the first/corresponding author in Movement disorders, Molecular and cellular biology, Human mutation, and other journals.
Representative works:
1.Li LX#, Liu Y#, Huang JH, Yang Y, Pan YG, Zhang XL, Pan LZ, Jin LJ*. Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia. Clin Genet. 2023;103(4):459-465.
2.Jiang LT#, Chen YH#, Huang JH, Tong WF, Jin LJ*, Li LX*. Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease. Mol Cell Biol. 2022;42(7):e0055921.
3.Li LX#, Huang JH#, Pan LZ, Zhang XL, Pan YG, Jin LJ*. Whole-Exome Sequencing Identified Rare Variants in PCDHGB1 in Patients with Adult-Onset Dystonia. Mov Disord. 2022;37(5):1099-1101.
4.Li LX#, Jiang LT#, Liu Y, Zhang XL, Pan YG, Pan LZ, Nie ZY, Wan XH*, Jin LJ*. Mutation screening of VPS16 gene in patients with isolated dystonia. Parkinsonism Relat Disord. 2021;83:63-65.
5.Zhao SY#, Li LX#, Chen YL, Chen YJ, Liu GL, Dong HL, Chen DF, Li HF*, Wu ZY*. Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders. CNS Neurosci Ther. 2020;26(1):39-46.
6.Lu C#, Li LX#, Dong HL#, Wei Q, Liu ZJ, Ni W, Gitler AD, Wu ZY*. Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. J Mol Med (Berl). 2018;96(7):701-712.
7.Li LX#, Liu GL, Liu ZJ, Lu C, Wu ZY*. Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D. Hum Mutat. 2017;38(11):1569-1578.
