Publications

Li HF#, Chen YL#, Zhuang L#, Chen DF, Ke HZ, Luo WJ, Liu GL, Wu SN, Zhou WH, Xiong ZQ*, Wu ZY*. TMEM151A variants cause paroxysmal kinesigenic dyskinesia. Cell Discov, 2021, 7(1):83.

Chen LX, Xu HF, Wang PS, Yang XX, Wu ZY*, Li HF*. SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China. Front Genet, 2021, 12:746060.

Xue YY#, Huang XR#, Dong HL, Wu ZY, Li HF*. Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome. CNS Neurosci Ther, 2021, 27(10):1251-1253

Xue YY, Wu ZY, Li HF*. Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report. CNS Neurosci Ther, 2021, 27(6):725-727.

Luo WJ#, Wei Q#, Dong HL, Yan YT, Chen MJ, Li HF*. Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy. Mol Genet Genomic Med, 2020, 8(1): e1065

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

Li HF#, Yang L#, Yin D#, Chen WJ, Liu GL, Ni W, Wang N, Yu W, Wu ZY*, Wang Z*. Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia, Parkinsonism Relat Disord, 2019, 62:134-140.

Liu ZJ#, Lin HX#, Wei Q#, Zhang QJ#, Chen CX, Tao QQ, Liu GL, Ni W, Aaron D. Gitler, Li HF*, Wu ZY*. Genetic spectrum and variability in Chinese patients with amyotrophic lateral sclerosis. Aging Dis, 2019, 10(6):1199-1206

Yan YT#, Wei Q#, Zheng Y#, Luo WJ, Dong HL, Lu C, Zhang J, Chen MJ, Bao YX, Li HF*. Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia, Clin Genet, 2019, 95(5):637-639.

Chen MJ, Li HF*, Mao S*. Trigeminal autonomic cephalalgias manifested as the only initial symptom of Ehlers–Danlos syndrome type IV. J Pain Res, 2019, 12:3215-3220

Chen YJ, Chen YC, Dong HL, Li LX, Ni W, Li HF*, Wu ZY*. Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration, Parkinsonism Relat Disord, 2018, 49:88-94.

Li HF#, Liu ZJ#, Dong HL, Xie JJ, Zhao SY, Ni W, Dong Y, Wu ZY*. Clinical features of Chinese patients with Gerstmann-Sträussler-Scheinker identified by targeted next-generation sequencing, Neurobiol Aging, 2017, 49:216.e1-e5.

Chen S#, Ni W#, Yin XZ#, Liu HQ, Lu C, Zheng QJ, Zhao GX, Xu YF, Wu L, Zhang L, Wang N, Li HF*, Wu ZY*. Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study, CNS Neurosci Ther, 2017, 23(9):707-716.

Lu C#, Zheng YC#, Dong Y, Li HF*. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing, BMC Neurol, 2016, 16(1):179.

Li HF, Wu ZY*, Genotype-phenotype correlations of amyotrophic lateral sclerosis, Transl Neurodegener, 2016, 5:3

Ni W#, Li HF#, Zheng YC, Wu ZY*, FTL mutation in a Chinese pedigree with neuroferritinopathy, Neurol Genet, 2016, 2(3):e74.

Wen XD#, Li HF#, Wang HX, Ni W, Dong Y, Wu ZY*, Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy, CNS Neurosci Ther, 2015, 21(8):626-630

Zhang SZ#, Li HF#, Ma LX#, Qian WJ, Wang ZF, Wu ZY*, Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia, Biol Open, 2015, 4: 1744-1752.

Liu ZJ#, Li HF#, Tan GH#, Tao QQ, Ni W, Cheng XW, Xiong ZQ, Wu ZY*, Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system, Neurobiol Aging, 2014, 35(12):2881.e11-15

Li HF#, Chen WJ#, Ni W, Wu ZY*. Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations, Neurosci Bull, 2014, 30(6):1010-1016

Li HF, Chen WJ, Ni W, Wang KY, Liu GL, Wang N, Xiong ZQ, Xu JF, Wu ZY. PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. Neurology, 2013, 80(16):1534-1535.

Li HF, Ni W, Xiong ZQ, Xu JF, Wu ZY. PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia. CNS Neurosci Ther, 2013, 19(1):61-65.

Li HF#, Li Q#, Du XN, Sun YY, Wang XY, Kroemer G, Blomgren K, Zhu CL. Lithium-mediated long-term neuroprotection in neonatal rat hypoxia-ischemia is associated with antiinflammatory effects and enhanced proliferation and survival of neural stem/progenitor cells. J Cereb Blood Flow Metab, 2011: 31(10): 2106-2115.