1.Lin P., Li J., Liu Q., Mao F., Qiu R., Hu H., Song Y., Yang Y., Gao G., Yan C., Yang W., Shao C., Gong Y*. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet. 83, 752-759 (2008).
2.Lin P., Zhang D, Xu G*, Yan C: Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. J Hum Genet 63:521-524, (2018).
3.Lv, X., Gao, F., Dai, T., Zhao, D., Jiang, W., Geng, H., Liu, F.,Lin, P.*, & Yan, C*. Distal myopathy due to TCAP variants in four unrelated Chinese patients. Neurogenetics. (2021).
4.Jiang, W., Geng, H., Lv, X., Ma, J., Liu, F.,Lin, P.*, & Yan, C*. Idebenone Protects against Atherosclerosis in Apolipoprotein E-Deficient Mice Via Activation of the SIRT3-SOD2-mtROS Pathway. Cardiovascular drugs and therapy. (2021).
5.Lv, X., Zhao, B., Xu, L., Jiang, W., Dai, T., Zhao, D.,Lin, P.*, & Yan, C. Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure. Neurological sciences. (2022).
6.Lv, X. Q., Xu, L.,Lin, P. F.*, & Yan, C. Z. Clinical, genetic, and pathological characterization of GNE myopathy in China. Neurological sciences. (2022).
7.Xu, L., Geng, H., Lv, X., Wang, G., Yan, C., Zhang, D.*, &Lin, P*. A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy. Journal of human genetics. (2022).
8.Wang, G., Lv, X., Xu, L., Zhang, R., Yan, C., &Lin, P*. Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family. Neurological sciences. (2022).
9.Lv, X., Zhang, R., Xu, L., Wang, G., Yan, C., &Lin, P*. Tcap Deficiency in Zebrafish Leads to ROS Production and Mitophagy, and Idebenone Improves its Phenotypes. Frontiers in cell and developmental biology.(2022).
10.Yu, W., Cao, L., &Lin, P*. Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy. JAMA neurology. (2022).
11.Xu, L., Wang, G., Lv, X., Zhang, D., Yan, C., &Lin, P*. A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature. Acta neurologica Belgica.(2022).
12.徐玲, 林鹏飞*, 焉传祝. 浅谈模式生物斑马鱼在遗传性肌肉疾病研究中的应用[J]. 中华神经科杂志, 2022, 55(1):4.
13.王光裕, 林鹏飞*, 焉传祝.他汀类药物相关性肌病的发病机制和干预措施研究进展[J]. 中华内科杂志, 2022, 61(8):116.
14.赵丹丹,王光裕,戴廷军, 焉传祝,林鹏飞*. NEB基因突变致杆状体肌病的临床、肌肉病理和基因突变特点. 中华神经科杂志,2022,55(11):1270-1276.
15.王光裕,徐玲,赵丹丹, 焉传祝, 林鹏飞*. 三个FKRP基因变异所致的肢带型肌营养不良2I型家系的临床表现及遗传学分析. 中华医学遗传学杂志,2022,39(11):1205-1210.
16.Wang, G., Zhao, D., Yan, C.,Lin, P*. Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy. J Hum Genet (2022).
17.Wang, G., Hou, Y., Lv, X. Yan,C.,Lin, P*. Somatic and germinal mosaicism in a Han Chinese family with laminopathies. Eur J Hum Genet (2022).
18.Lv X, Lin F, Wu W, Wang H, Luo Y, Wang Z, Yan C, Lv H, Luo S,Lin P*. The clinical features and TCAP mutation Spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7. Hum Mol Genet.(2023)
19.Wang, G., Wu, W., Lv, X., Yan, C., &Lin, P*. Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders. J Hum Genet (2023).
20.Wenfei Yu, Wei Jiang, Wenjing Wu, Guangyu Wang, Dandan Zhao, Chuanzhu Yan*,Pengfei Lin*. Combining idebenone and rosuvastatin prevents atherosclerosis by suppressing oxidative stress and NLRP3 inflammasome activation. European Journal of Pharmacology. (2023)
21.Wang G, Wang B, Qin Q, Yan C, Zhao Y*,Lin P*. Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3-Related Spinocerebellar Ataxia. Mov Disord. (2023)
22.Liu S, Sun X, Ren Q, Chen Y, Dai T, Yang Y, Gong G, Li W, Zhao Y, Meng X,Lin P*, Yan C*. Glymphatic dysfunction in patients with early-stage amyotrophic lateral sclerosis. Brain. (2023)
23.Yu W, Li Z, Wu W, Zhao D, Yan C,Lin P*. Insights into the mechanisms of telbivudine-induced myopathy associated with mitochondrial dysfunction. Chem Biol Interact. 2023 Aug.(2023)