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.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).
3.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).
4.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).
5.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.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.
12.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.
13.Wang, G., Zhao, D., Yan, C.,Lin, P*. Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy. J Hum Genet (2022).
14.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).
15.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)
16.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).
17.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)
18.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)
19.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)
20. 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)
21. Xu L, Wang Y, Wang W, Zhang R, Zhao D, Yun Y, Liu F, Zhao Y*, Yan C,Lin P*. Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy. J Med Genet.(2023)
22. 杨桂冠,吕晓晴,李伟,戴廷军,赵丹丹,焉传祝,林鹏飞*. MYOT基因变异相关肌原纤维肌病3型的临床、肌肉病理和分子遗传学分析. 中华神经科杂志,2023,56(12): 1361-1370.
23. 王光裕,刘浩洋,吕晓晴,焉传祝,林鹏飞*. CAPN3基因非经典剪接位点突变致肢带型肌营养不良2A型患者3例的临床、肌肉病理和遗传学特点分析. 中华神经科杂志,2023,56(12):1341-1348.
24. 王光裕,刘浩洋,王胜军,焉传祝,林鹏飞*. STUB1基因变异致常染色体隐性遗传脊髓小脑共济失调16型1例并文献复习. 中华神经科杂志,2024,57(03):266-272.
25. Yu W, Wu W, Zhao D, ZhangMD R, Shao K, Liu H, Yan C,Lin P*. Idebenone ameliorates statin-induced myotoxicity in atherosclerotic ApoE-/- mice by reducing oxidative stress and improving mitochondrial function. Biochim Biophys Acta Mol Basis Dis. (2024)
26. Dai, T.#, Lou, J.#, Kong, D. Yan C,Lin P*& Liu S*. Choroid plexus enlargement in amyotrophic lateral sclerosis patients and its correlation with clinical disability and blood-CSF barrier permeability. Fluids Barriers CNS 21, 36 (2024).
27. Sun, S.#, Chen, Y.#, Yun, Y., Zhao, B., Ren, Q., Sun, X., Meng, X., Yan, C.,Lin P*& Liu S*. (2024). Elevated peripheral inflammation is associated with choroid plexus enlargement in independent sporadic amyotrophic lateral sclerosis cohorts. Fluids and barriers of the CNS, 21(1), 83. (2024).
28. Lv X, Liu S, Li X, Lv H, Shao K, Luo S, Zhao D, Yan C*,Lin P*. AAV-based TCAP delivery rescues mitochondria dislocation in limb-girdle muscular dystrophy R7. Brain. 2024 Oct 28.
29. Yang G#, Lv X#, Yang M, Feng Y, Wang G, Yan C,Lin P*. Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies. J Hum Genet. 2024 Nov 15.