李丽喜 - 同济大学

个人简介

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。

研究领域

运动障碍性疾病的临床与基础研究神经遗传病的致病基因研究

近期论文

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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. 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. 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. 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. 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. 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. 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.