Hong-Fu Li

发表

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Ning Wang, Jin He, Wang Ni, 2011, Nature Genetics.

Intermediate-length polyglutamine in ATXN2 is a possible risk factor among Eastern Chinese patients with amyotrophic lateral sclerosis

Zhi-ying Wu, Ning Wang, W. Ni, 2015, Neurobiology of Aging.

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

Zhi-ying Wu, Qiao Wei, Hong-Fu Li, 2019, Translational Neurodegeneration.

Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia.

D. Yin, Z. Wang, Wanjin Chen, 2019, Parkinsonism & related disorders.

CHIP control degradation of mutant ETF:QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency

Z. Xiong, Long Yu, Zhi-ying Wu, 2021, Journal of inherited metabolic disease.

TMEM151A variants cause paroxysmal kinesigenic dyskinesia

Z. Xiong, Hong-Fu Li, Gonglu Liu, 2021, Cell discovery.

Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy

W. Ni, Hong-Xia Wang, Hong-Fu Li, 2015, CNS neuroscience & therapeutics.

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

Z. Xiong, Wanjin Chen, Ning Wang, 2013, Neurology.

Genotype-phenotype correlations of amyotrophic lateral sclerosis

Hong-Fu Li, Zhi-Ying Wu, 2016, Translational Neurodegeneration.

Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

Hong-Fu Li, Gonglu Liu, Zhi-Ying Wu, 2021, Frontiers of Medicine.

Taste loss as the sole presenting symptom in Chinese patient with facial onset sensory and motor neuronopathy

Hong-Fu Li, Hao Yu, Gonglu Liu, 2021, CNS neuroscience & therapeutics.

Characteristic of gut microbiota in southeastern Chinese patients with neuromyelitis optica spectrum disorders.

Lei Wu, Yong Xu, Hong-Fu Li, 2020, Multiple sclerosis and related disorders.

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features

Hong-Fu Li, Zhi-Ying Wu, Yu-Lan Chen, 2022, Neurology: Genetics.

Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants

Hong-Fu Li, Zhi-Ying Wu, Yu-Lan Chen, 2022, Movement disorders : official journal of the Movement Disorder Society.

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2‐related disorders

Hong-Fu Li, Hai-Lin Dong, Yi-Jun Chen, 2019, CNS neuroscience & therapeutics.

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients

Hong-Xia Wang, Hong-Fu Li, Gonglu Liu, 2016, Chinese medical journal.

Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia

Hong-Fu Li, Wenjing Qian, Zhong-Feng Wang, 2015, Biology Open.

Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis

A. Gitler, Qiao Wei, Hong-Fu Li, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report

Hong-Fu Li, Zhi-Ying Wu, Yan-Yan Xue, 2021, CNS neuroscience & therapeutics.

SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

Hong-Fu Li, Hai-Feng Xu, Peiqui Wang, 2021, Frontiers in Genetics.

Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome

Hong-Fu Li, Hai-Lin Dong, Zhi-Ying Wu, 2021, CNS neuroscience & therapeutics.

Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration

Hong-Fu Li, Yi-Jun Chen, Hao-Ling Cheng, 2022, Brain sciences.

Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration.

W. Ni, Hong-Fu Li, Hai-Lin Dong, 2018, Parkinsonism & related disorders.

Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease

Juan Zhang, W. Ni, Qiao Wei, 2022, Frontiers in Genetics.

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations

W. Ni, Hong-Fu Li, Juan-Juan Xie, 2022, CNS neuroscience & therapeutics.

Epileptic Attack-Related Disorders

Hong-Fu Li, Qingqing Tao, Sheng Chen, 2017 .

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy

Qiao Wei, Hong-Fu Li, Hai-Lin Dong, 2019, Molecular genetics & genomic medicine.

Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers–Danlos Syndrome Type IV

Hong-Fu Li, Shanying Mao, Mei-Jiao Chen, 2019, Journal of pain research.

PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum

Yang Li, K. Sakimura, Z. Xiong, 2017, Cell Research.

Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.

S. Murong, Ning Wang, W. Ni, 2013, Gene.

Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population

Yong Xu, Gui-xian Zhao, Hong-Fu Li, 2020, Journal of Neurology.

Variant of EOMES Associated with Increasing Risk in Chinese Patients with Relapsing-remitting Multiple Sclerosis

Yong Xu, Hong-Fu Li, B. Xiao, 2018, Chinese medical journal.

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

Ning Wang, W. Ni, Yong Xu, 2017, CNS neuroscience & therapeutics.

Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis

W. Ni, Hong-Fu Li, B. Xiao, 2016, Oncotarget.

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease

Qiao Wei, Huan Ma, Ge Bai, 2019, Clinical genetics.

Pathogenicity classification of SOD1 variants of uncertain significance by in vitro aggregation propensity

Hong-Fu Li, Hai-Feng Xu, Zhi-Ying Wu, 2022, Neurobiology of Aging.

Clinical features of Chinese patients with Gerstmann–Sträussler–Scheinker identified by targeted next-generation sequencing

W. Ni, Hong-Fu Li, Zhi-Jun Liu, 2017, Neurobiology of Aging.

Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot‐Marie‐Tooth disease

Qiao Wei, Huan Ma, Ge Bai, 2020, Journal of the peripheral nervous system : JPNS.

Modeling Neurological Disease by Rapid Conversion of Human Urine Cells into Functional Neurons

Hong-Xia Wang, Hong-Fu Li, Wenjing Qian, 2015, Stem cells international.

Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations

Qiao Wei, Hong-Fu Li, Zhi-Ying Wu, 2023, Chinese medical journal.

Diffuse intracranial calcification, deep medullary vein engorgement, and symmetric white matter involvement in a patient with systemic lupus erythematosus

Hong-Fu Li, Mei-Ping Ding, Yin-Xi Zhang, 2019, CNS Neuroscience & Therapeutics.

Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system

Z. Xiong, W. Ni, Guo-he Tan, 2014, Neurobiology of Aging.

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

Hong-Fu Li, Yi Dong, Cong Lu, 2016, BMC Neurology.

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.

Qiao Wei, Ge Bai, Hong-Fu Li, 2021, Brain : a journal of neurology.

Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations

W. Ni, Hong-Fu Li, Zhi-Ying Wu, 2014, Neuroscience Bulletin.

PRRT2 Mutations and PRRT2 Disorders

Hong-Fu Li, Zhi-Ying Wu, 2013 .

PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia

Z. Xiong, W. Ni, Hong-Fu Li, 2013, CNS neuroscience & therapeutics.

Genotype-phenotype correlations of amyotrophic lateral sclerosis

Hong-Fu Li, Zhi-Ying Wu, 2016, Translational Neurodegeneration.

Novel stop‐gain RNF170 variation detected in a Chinese family with adolescent‐onset hereditary spastic paraplegia

Qiao Wei, Hong-Fu Li, Yu-Lan Chen, 2022, Clinical genetics.

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

Qiao Wei, Hong-Fu Li, Zhi-Jun Liu, 2019, Translational Neurodegeneration.

FTL mutation in a Chinese pedigree with neuroferritinopathy

W. Ni, Hong-Fu Li, Zhi-Ying Wu, 2016, Neurology: Genetics.

A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia

Qiao Wei, Hong-Fu Li, Hai-Lin Dong, 2022, Molecular genetics & genomic medicine.

Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration.

Hong-Fu Li, Yanfang Li, Jimin Wu, 2016, Biomedical reports.

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations

L. Guo, R. Chai, X. Gu, 2015, Clinical genetics.

Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia

Qiao Wei, Hong-Fu Li, Hai-Lin Dong, 2019, Clinical genetics.

Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.

Qiao Wei, Hong-Fu Li, Hai-Lin Dong, 2023, CNS neuroscience & therapeutics.

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

Ning Wang, W. Ni, Yong Xu, 2017, CNS neuroscience & therapeutics.

Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms

Hong-Fu Li, Zhi-Ying Wu, Jiao-Jiao Xu, 2023, Neuroscience bulletin.