导师简介

姓名：畅雪丽性别：女政治面貌：中共党员

学历：博士学位：博士职称：副主任医师

博、硕导师：硕导本岗位工作年数：10年

研究方向：神经肌肉病

荣誉称号：无

学术任职：中国医师协会神经内科医师分会青年工作组学组成员；山西省医学会神经病学分会青年委员会副主任委员；山西省医学会神经病学分会神经肌肉病学组副组长

近五年承担科研课题情况：

1.山西省科学技术厅,山西省基础研究计划, 202403021221288, NEMF调控内质网应激参与海马神经发生导致认知障碍的机制研究, 2025-01至2027-12, 7万元,在研,主持

2.山西医科大学2024年高等教育“百亿工程”科技引导专项—基础-临床双向转化专项，BYJH011，NEMF调控内质网应激参与成年海马神经发生导致认知障碍的机制研究，20万元，在研，主持

3.国家自然科学基金委员会,青年科学基金项目, 82001222, NEMF参与神经发育致神经变性疾病发生的分子机制研究, 2021-01-01至2023-12-31, 24万元,结题,主持

4.中华国际医学交流基金会创新思维研究基金，Z-2016-20-1801，MELAS患者神经元中PPAR/PGC-1α通路的关键作用及干预研究，10万元，结题，主持

代表性论著及近五年的代表性论文（限10项以内）：

1.通讯作者. Juan Wang; Rongjuan Zhao; Jing Ma; Jiangbo Qin; Huiqiu Zhang; Junhong Guo;Xueli Chang*; Wei Zhang*. Biallelic FDXR mutations induce ferroptosis in a rare mitochondrial disease with ataxia, Free Radic Biol Med, 2025, 230: 248-262.

2.通讯作者. Juan Wang; Jianhua Wang; Hanshuai Cao; Yingming Xing; Zhuoran Wang; Jing Ma; Rongjuan Zhao; Wei Zhang; Junhong Guo*;Xueli Chang*. The relationship between Ribosome-associated Quality Control and neurological disorders, The Journals of Gerontology, Series A: Biological Sciences and Medical Sciences, 2025, 80(4): glae304.

3.通讯作者.Feng Liang; Runyang Li; Make Yao; Jing Wang; Yunhong Li; Lijian Lei; Junhong Guo;Xueli Chang*. Deciphering Prognostic Indicators in Non-HIV Cryptococcal Meningitis: Constructing and Validating a Predictive Nomogram Model, Medical Mycology, 2024, 62(9): myae092.

4.通讯作者. Feng Liang; Runyang Li; Junhong Guo; Wei Zhang; Xueli Chang*. Assessing PET/CT's diagnostic accuracy in idiopathic inflammatory myopathies,Hell J Nucl Med, 2024; 27(1): 46-54.

5.通讯作者. Juan Wang; Rongjuan Zhao; Hanshuai Cao; Zhaoxu Yin; Jing Ma; Yingming Xing; Wei Zhang;Xueli Chang*; Junhong Guo*. A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family, Ann Clin Transl Neurol, 2023, 10(11): 2139-2148.

6.通讯作者.Wei Zhang,Jing Ma,Jiaying Shi,Shan Huang,Rongjuan Zhao,Xiaomin Pang,Juan Wang,Junhong Guo,Xueli Chang*. GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome. J Neurol, 2022, 269(8):4469-4477.

7.第一作者.Xueli Chang,Zhaoxu Yin,Wei Zhang,Jiaying Shi,Chuanqiang Pu,Qiang Shi,Juan Wang,Jing Zhang,Li Yan,Wenqu Yang,Junhong Guo*. Data-independent acquisition-based quantitative proteomic analysis of m.3243A>G MELAS reveals novel potential pathogenesis and therapeutic targets. Medicine (Baltimore), 2022, 101(41):e30938.

8.通讯作者.Li Yan,Zhao-Xu Yin,Xue-Li Chang*,Rui Wang,Xiu-Min Zhang,Jun-Hong Guo. Neuromuscular junction disorders: Experimental models and pathophysiological mechanisms. Acta Neurobiol Exp (Wars), 2022;82(4):501-510.

9.第一作者.Chang X, Wu Y, Zhou J, Meng H, Zhang W, Guo J*. A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations. Medicine (Baltimore), 2020, 99(5): e18634.

10.通讯作者. Wen Q,Chang X*, Guo J*. A childhood‑onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. Acta Neurologica Belgica, 2020,120(6):1351-1360.