Resultats de la cerca - Li, Hong‐Fu

N-methyl-D-aspartate receptors mediate diphosphorylation of extracellular signal-regulated kinases through Src family tyrosine kinases and Ca(2+)/calmodulin-dependent protein kinas... per Wu, Hui-Wen, Li, Hong-Fu, Guo, Jun

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Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers–Danlos Syndrome Type IV per Chen, Mei-Jiao, Li, Hong-Fu, Mao, Shanying

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Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report per Xue, Yan‐Yan, Wu, Zhi‐Ying, Li, Hong‐Fu

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Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing per Lu, Cong, Zheng, Yi-Cen, Dong, Yi, Li, Hong-Fu

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FTL mutation in a Chinese pedigree with neuroferritinopathy per Ni, Wang, Li, Hong-Fu, Zheng, Yi-Cen, Wu, Zhi-Ying

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Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations per Li, Hong-Fu, Chen, Wan-Jin, Ni, Wang, Wu, Zhi-Ying

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Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration per Li, Yan-Fang, Li, Hong-Fu, Zhang, Yan-Bin, Wu, Ji-Min

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PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia per Li, Hong‐Fu, Ni, Wang, Xiong, Zhi‐Qi, Xu, Jianfeng, Wu, Zhi‐Ying

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Taste loss as the sole presenting symptom in Chinese patient with facial onset sensory and motor neuronopathy per Chen, Lu‐Xi, Liu, Gong‐Lu, Yu, Hao, Wu, Zhi‐Ying, Li, Hong‐Fu

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(E)-2-{4-[1-(Hydroxyimino)ethyl]phenyl­iminomethyl}-6-methoxyphenol mono­hydrate per Tong, Jun-Feng, Gao, Su-Xia, Dong, Wen-Kui, Li, Hong-Fu, Wu, Jian-Chao

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Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients per Wang, Hong-Xia, Li, Hong-Fu, Liu, Gong-Lu, Wen, Xiao-Dan, Wu, Zhi-Ying

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Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome per Xue, Yan‐Yan, Huang, Xue‐Rong, Dong, Hai‐Lin, Wu, Zhi‐Ying, Li, Hong‐Fu

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Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy per Wen, Xiao‐Dan, Li, Hong‐Fu, Wang, Hong‐Xia, Ni, Wang, Dong, Yi, Wu, Zhi‐Ying

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Diffuse intracranial calcification, deep medullary vein engorgement, and symmetric white matter involvement in a patient with systemic lupus erythematosus per Zhang, Yin‐Xi, Li, Hong‐Fu, Zheng, Yang, Wu, Lei, Wu, Zhi‐Ying, Ding, Mei‐Ping

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The association of XRCC1 polymorphism with osteosarcoma risk, clinicopathologic features, and prognosis in a Chinese Han population per Wu, Ying-Guang, Li, Hong-Fu, Ren, Yan-Jun, Zou, De-Bo, Zhang, Kai-Ning, Xiao, Xing

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Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy per Luo, Wen‐Jiao, Wei, Qiao, Dong, Hai‐Lin, Yan, Yang‐Tian, Chen, Mei‐Jiao, Li, Hong‐Fu

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A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia per Wei, Qiao, Wang, Pei‐Shan, Dong, Hai‐Lin, Luo, Wen‐Jiao, Wu, Zhi‐Ying, Li, Hong‐Fu

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Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration per Cheng, Hao-Ling, Chen, Yi-Jun, Xue, Yan-Yan, Wu, Zhi-Ying, Li, Hong-Fu, Wang, Ning

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SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China per Chen, Lu-Xi, Xu, Hai-Feng, Wang, Pei-Shan, Yang, Xin-Xia, Wu, Zhi-Ying, Li, Hong-Fu

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Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features per Chen, Yu-Lan, Chen, Dian-Fu, Ke, Hua-Zhen, Zhao, Shao-Yun, Li, Hong-Fu, Wu, Zhi-Ying

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