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标题:A Missense Mutation in SMEK1 Triggers Aggresome Formation and Neuronal Death, Causing Autosomal-Dominant Complicated Hereditary Spastic Paraplegia and Neurodegeneration.

高菲

单位:山东第一医科大学第一附属医院   科室:检验科

(1) Noncoding RNA profiling in omentum adipose tissue from obese patients and the dentification of novel metabolic biomarkers, Frontiers in genetics.

(2) Ppp4r3a deficiency leads to depression-like behaviors in mice by modulating the synthesis of synaptic proteins. Dis Model Mech. 

(3) Distal myopathy due to TCAP variants in four unrelated Chinese patients. Neurogenetics

(4) 山东省自然科学基金委员会,青年项目,EIF3A基因在非酒精性脂肪肝病发生发展中的作用及机制研究,2024.01.01-2026.12.31,在研,主持

(5)山东预防医学会转化医学分化常务委员、中国康复医学会青年工作组委员等