Ruxu Zhang

发表

A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy

K. Xia, Zhengmao Hu, B. Tang, 2015, Neurology.

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

Huidong Tang, S. Chen, Wotu Tian, 2020, Movement disorders : official journal of the Movement Disorder Society.

A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L

K. Xia, Q. Pan, B. Tang, 2014, Neural regeneration research.

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

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

Guillain-Barré syndrome in southern China: retrospective analysis of hospitalised patients from 14 provinces in the area south of the Huaihe River

X. He, M. Lou, Q. Cao, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Intermediate Charcot-Marie-Tooth disease

Ruxu Zhang, Leishan Liu, 2014, Neuroscience Bulletin.

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

K. Xia, Q. Pan, Biao Chen, 2005, Archives of neurology.

Genotype–phenotype correlation and frequency of distribution in a cohort of Chinese Charcot–Marie–Tooth patients associated with GDAP1 mutations

K. Xia, Zhengmao Hu, B. Tang, 2018, Journal of Neurology.

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

K. Xia, B. Tang, Zhengmao Hu, 2018, Chinese medical journal.

Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.

C. Zhang, K. Xia, B. Tang, 2005, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

[The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].

K. Xia, Q. Pan, B. Tang, 2005, Zhonghua yi xue za zhi.

One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families

B. Tang, Ji-feng Guo, Lu Shen, 2022, Frontiers in Neurology.

Genotype and phenotype distribution of 435 patients with Charcot–Marie–Tooth disease from central south China

Zhengmao Hu, B. Tang, S. Zuchner, 2021, European journal of neurology.

Sensitivity of Sniffer Dogs for a Diagnosis of Parkinson's Disease: A Diagnostic Accuracy Study

Yang Zhang, B. Tang, Ji-feng Guo, 2022, Movement disorders : official journal of the Movement Disorder Society.

Listeria Monocytogenes Meningoencephalitis Due to IRAK4 Deficiency

Ding Liu, Ruxu Zhang, Ru Chen, 2021, Journal of Clinical Immunology.

K. Xia, Zhengmao Hu, B. Tang, 2016, Journal of the peripheral nervous system : JPNS.

Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families

Zhengmao Hu, B. Tang, Ji-feng Guo, 2020, Frontiers in Neurology.

K. Xia, Zhengmao Hu, B. Tang, 2015, Muscle & nerve.

MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.

K. Xia, Zhengmao Hu, B. Tang, 2016, Brain : a journal of neurology.

A novel AIFM1 mutation in a Chinese family with X-linked Charcot–Marie–Tooth disease type 4

B. Tang, Binghao Wang, Qingwen Jin, 2018, Neuromuscular Disorders.

Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.

J. Li, B. Tang, Wanjun Zhou, 2019, Brain : a journal of neurology.

Clinical Features of Familial Amyloidotic Polyneuropathy With Transthyretin p.Ala117Ser Mutation in Mainland China

Haishan Jiang, L. Meng, Zhaoyong Zhang, 2021 .

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

P. Jin, K. Xia, B. Tang, 2019, American journal of human genetics.

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

K. Xia, Q. Pan, H. Dai, 2005, Human Genetics.

Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients★

K. Xia, Zhengmao Hu, B. Tang, 2012, Neural regeneration research.

[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].

K. Xia, B. Tang, Zhengmao Hu, 2010, Yi chuan = Hereditas.

The electrophysiological characteristics of the four most common genotypes of Charcot-Marie-Tooth disease

B. Tang, X. Zi, Huadong Zhao, 2019 .

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].

K. Xia, Q. Pan, B. Tang, 2009, Zhonghua yi xue za zhi.

Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

M. Kennerson, Jin He, Jing Zhang, 2022, Annals of neurology.

K. Xia, Zhengmao Hu, B. Tang, 2017, Neuromuscular Disorders.

Mutation spectrum of amyotrophic lateral sclerosis in Central South China

B. Tang, Ling Huang, Hong Jiang, 2021, Neurobiology of Aging.

The Protective Effect of Vitexin Compound B-1 on Rat Cerebral I/R Injury through a Mechanism Involving Modulation of miR-92b/NOX4 Pathway.

Zhong-Bao Yang, Ruxu Zhang, Jun Peng, 2022, CNS & neurological disorders drug targets.

SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS

T. Hornemann, B. Tang, S. Zeng, 2022, medRxiv.

Two novel MPZ mutations in Chinese CMT patients

K. Xia, B. Tang, Ji-feng Guo, 2013, Journal of the peripheral nervous system : JPNS.

A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family

Jun Liu, Zhengmao Hu, B. Tang, 2019, Clinical genetics.

The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies

B. Tang, S. Zuchner, Q. Xiao, 2023, Journal of Neurology.

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot–Marie–Tooth Disease

Xiao-bo Li, Lei Liu, Yongzhi Xie, 2023, Journal of neurology.

Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients

B. Tang, Xiao-bo Li, Lei Liu, 2023, European journal of neurology.

A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12‐p35.1

K. Xia, Q. Pan, B. Tang, 2008, Clinical genetics.