Li Cao

发表

Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18

S. Chen, Wotu Tian, Jun-Yi Shen, 2016, Chinese medical journal.

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.

Y. Liang, H. Lv, Wei Zhang, 2020, American journal of human genetics.

Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review

Li Cao, Fei-xia Zhan, 2021, Immunologic Research.

Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy

Ying Wang, Huidong Tang, Jianfang Ma, 2019, Translational Neurodegeneration.

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.

Zhiyuan Wu, Huidong Tang, S. Chen, 2013, Parkinsonism & related disorders.

Altered structural and functional connectivity in CSF1R-related leukoencephalopathy

Ying Wang, Huidong Tang, Jiong Hu, 2020, Brain Imaging and Behavior.

The study of exercise tests in paroxysmal kinesigenic dyskinesia

S. Chen, Wotu Tian, Xiao-li Liu, 2018, Clinical Neurophysiology.

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review

Huidong Tang, S. Chen, Wotu Tian, 2019, Neuromuscular Disorders.

Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia

Wotu Tian, Xiao-li Liu, Xiao-jun Huang, 2022, Journal of Neurology.

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

Zhaoxia Wang, Shengdi Chen, B. Tang, 2021, Translational Neurodegeneration.

Proline‐rich transmembrane protein 2–negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients

B. Tang, Huidong Tang, S. Chen, 2018, Movement disorders : official journal of the Movement Disorder Society.

Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia

S. Chen, Wotu Tian, Jun-Yi Shen, 2017 .

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.

S. Chen, Xiao-jun Huang, Li Cao, 2012, Parkinsonism & related disorders.

Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia

Wotu Tian, Xiao-li Liu, Xiao-jun Huang, 2022, Journal of Neurology.

Curcumin could reduce the monomer of TTR with Tyr114Cys mutation via autophagy in cell model of familial amyloid polyneuropathy

S. Chen, Li Cao, Hui Li, 2014, Drug design, development and therapy.

Clinical phenotype and genetic characteristics of ataxia - telangiectasia: four cases report

Xiao-li Liu, Li Cao, Lan Zheng, 2017 .

ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F

Baorong Zhang, Baohui Chen, Li Cao, 2019, Journal of the peripheral nervous system : JPNS.

Novel mutations in the SPAST gene cause hereditary spastic paraplegia.

Ying Wang, Huidong Tang, Shengdi Chen, 2019, Parkinsonism & related disorders.

Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia

S. Chen, Li Cao, Q. Xiao, 2011, Movement disorders : official journal of the Movement Disorder Society.

Vacuolar protein sorting 35 Asp620Asn mutation is rare in the ethnic Chinese population with Parkinson's disease.

Ying Wang, Gang Wang, Jianfang Ma, 2012, Parkinsonism & related disorders.

Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL

Huidong Tang, Li Cao, Shige Wang, 2020, Seizure.

De novo mutations in GFAP cause Alexander disease : clinical features , fMRI and functional 3 analysis 4 Running head : De novo mutations in Alexander disease 5 6

Huidong Tang, Wotu Tian, Xiao-li Liu, 2020 .

Genetic research advance on neurodegeneration with brain iron accumulation

Xiao-jun Huang, Li Cao, 2017 .

Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia

Li Cao, Fei-xia Zhan, Shige Wang, 2020, Journal of clinical neurology.

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

Huidong Tang, Wotu Tian, Xiao-li Liu, 2018, Chinese medical journal.

Clinical phenotype and genetic mutation of fatty acid hydroxylase - associated neurodegeneration: analysis of four cases

S. Chen, Jun-Yi Shen, Xiao-li Liu, 2017 .

A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.

Wotu Tian, Xiao-li Liu, Li Cao, 2022, European journal of medical genetics.

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Li Cao, Fei-xia Zhan, Jianguo Liu, 2022, Annals of clinical and translational neurology.

Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review

Wotu Tian, Xiao-li Liu, Li Cao, 2022, Clinical Neurology and Neurosurgery.

Variants in LAMC3 Causes Occipital Cortical Malformation

Huidong Tang, X. Luan, Li Cao, 2021, Frontiers in Genetics.

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Huidong Tang, S. Chen, Xiao-li Liu, 2015, Channels.

Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review

Ying Wang, Huidong Tang, S. Chen, 2018, Seizure.

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

Zhixian Yang, K. Xia, B. Tang, 2018, Human molecular genetics.

Depression, Anxiety, and Quality of Life in Paroxysmal Kinesigenic Dyskinesia Patients

S. Chen, Wotu Tian, Jun-Yi Shen, 2017, Chinese medical journal.

Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China

Ying Wang, Gang Wang, S. Chen, 2010, Neuroscience Letters.

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

K. Xia, B. Tang, Zhengmao Hu, 2011, Brain : a journal of neurology.

Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses

Wotu Tian, Xiao-jun Huang, Li Cao, 2020, Neuroscience Letters.

Mild cognitive impairment has similar alterations as Alzheimer's disease in gut microbiota

Huidong Tang, Jianfang Ma, Shengdi Chen, 2019, Alzheimer's & Dementia.

The association between two single nucleotide polymorphisms within the insulin-degrading enzyme gene and Alzheimer’s disease in a Chinese Han population

Ying Wang, Yulei Deng, Gang Wang, 2012, Journal of Clinical Neuroscience.

CALHM1 P86L polymorphism is a risk factor for Alzheimer's disease in the Chinese population.

W. Xu, Ying Wang, Huidong Tang, 2010, Journal of Alzheimer's disease : JAD.

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

H. Lv, Wei Zhang, Zhaoxia Wang, 2021, Annals of clinical and translational neurology.

H. Shang, T. Ashizawa, Baorong Zhang, 2017, Brain : a journal of neurology.

The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia

Huidong Tang, Jianfang Ma, Shengdi Chen, 2018, Aging and disease.

Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders

Wotu Tian, Li Cao, Yan Wang, 2019, Clinical Neurology and Neurosurgery.

PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia.

Huidong Tang, S. Chen, Xiao-li Liu, 2014, Parkinsonism & related disorders.

PLP1 gene mutations cause spastic paraplegia type 2 in three families

Wotu Tian, Li Cao, Chaoyan Zhang, 2023, Annals of clinical and translational neurology.

Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T

S. Chen, Wotu Tian, X. Luan, 2019, Annals of clinical and translational neurology.

New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity

S. Chen, Wotu Tian, X. Luan, 2020, Annals of clinical and translational neurology.

Hemiballism-hemichorea induced by ketotic hyperglycemia: case report with PET study and review of the literature

Huidong Tang, Shengdi Chen, Li Cao, 2014, Translational Neurodegeneration.

Altered structural and functional connectivity in CSF1R-related leukoencephalopathy

Ying Wang, Huidong Tang, Wotu Tian, 2020, Brain Imaging and Behavior.

Altered Local Brain Amplitude of Fluctuations in Patients With Myotonic Dystrophy Type 1

Jun Liu, S. Chen, X. Luan, 2021, Frontiers in Aging Neuroscience.

Case report: A Chinese child with Andersen–Tawil syndrome due to a de novo KCNJ2 mutation

Huidong Tang, S. Chen, Jun-Yi Shen, 2015, Journal of the Neurological Sciences.

Transthyretin-Related Hereditary Amyloidosis in a Chinese Family with TTR Y114C Mutation

Yulei Deng, Jianfang Ma, S. Chen, 2010, Neurodegenerative Diseases.

Novel ATM mutations with ataxia-telangiectasia

S. Chen, Jun-Yi Shen, Xiao-li Liu, 2016, Neuroscience Letters.

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review

Xiao-jun Huang, Li Cao, Chaoyan Zhang, 2022, The Journal of international medical research.

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease

Huidong Tang, Wotu Tian, Li Cao, 2021, Molecular medicine reports.

c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis

Xiao-li Liu, X. Luan, Xiao-jun Huang, 2020, Frontiers in Genetics.

H1/H1 genotype influences symptom severity in corticobasal syndrome

Huidong Tang, Jianqing Ding, S. Chen, 2010, Movement disorders : official journal of the Movement Disorder Society.

Expanding the clinical spectrum of adult-onset neuronal intranuclear inclusion disease

X. Luan, Xiao-jun Huang, Li Cao, 2021, Acta Neurologica Belgica.

Genetic polymorphisms in sigma-1 receptor and apolipoprotein E interact to influence the severity of Alzheimer's disease.

G. Halliday, J. Kwok, M. Hallupp, 2011, Current Alzheimer research.

The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts

Wotu Tian, Xiao-jun Huang, Li Cao, 2023, Movement disorders : official journal of the Movement Disorder Society.

Paroxysmal kinesigenic dyskinesia

B. Tang, S. Chen, Jun-Yi Shen, 2015, Neurology.

Progress in the research of genetics and clinical manifestation of paroxysmal kinesigenic dyskinesia

S. Chen, Xiao-jun Huang, Li Cao, 2013 .

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

X. Luan, Li Cao, Zhouwei Xu, 2022, Clinical case reports.

(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China.

H. Shang, T. Klockgether, T. Ashizawa, 2016, Brain : a journal of neurology.

The prevalence of LRRK2 Gly2385Arg variant in Chinese Han population with Parkinson's disease

Ying Wang, Jianfang Ma, Jianqing Ding, 2007 .

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Wotu Tian, Li Cao, Q. Lu, 2020, Annals of translational medicine.

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review

S. Chen, Xiao-jun Huang, Li Cao, 2013, Journal of the Neurological Sciences.

Myotonia congenita: novel mutations in CLCN1 gene

Ying Wang, Huidong Tang, S. Chen, 2015, Channels.

Mechanisms and Pharmacotherapy for Ethanol-Responsive Movement Disorders

Huidong Tang, Shengdi Chen, Li Cao, 2020, Frontiers in Neurology.

Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review

Wotu Tian, X. Luan, Li Cao, 2016, Clinical Neurology and Neurosurgery.

GIGYF2 Asn56Ser mutation is rare in Chinese Parkinson's disease patients

Ying Wang, S. Chen, Li Cao, 2009, Neuroscience Letters.

DJ‐1 modulates the expression of Cu/Zn‐superoxide dismutase‐1 through the Erk1/2–Elk1 pathway in neuroprotection

Jianqing Ding, Li Cao, Siyan Chen, 2011, Annals of neurology.

Depression, Anxiety, and Quality of Life in Paroxysmal Kinesigenic Dyskinesia Patients

Jun-Yi Shen, Xiao-jun Huang, Li Cao, 2022 .

Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells

Shengdi Chen, Li Cao, Siguang Li, 2016, OncoTarget.

Generation of an human induced pluripotent stem cell JTUi007-A from a patient with CSF1R-related leukoencephalopathy carrying heterozygous p.Ile794Thr mutation in CSF1R gene.

X. Luan, Li Cao, Fei-xia Zhan, 2021, Stem cell research.