Xiao-bo Li

发表

A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy

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

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

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

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 Detection in Candidate Genes for Benign Familial Infantile Seizures on a Novel Locus

K. Xia, Q. Pan, Zhengmao Hu, 2010, The International journal of neuroscience.

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.

MFN2‐related genetic and clinical features in a cohort of Chinese CMT2 patients

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.

PMP22‐Related neuropathies and other clinical manifestations in Chinese han patients with charcot‐marie‐tooth disease type 1

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.

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.

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

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

[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.

IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot–Marie–Tooth disease type 2 patients

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

Effects of chemerin/CMKLR1 in obesity-induced hypertension and potential mechanism.

C. Weng, Kan Yang, Hong Yuan, 2017, American journal of translational research.

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.

Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations

B. Tang, L. Lei, Xiao-bo Li, 2022, Neuromuscular Disorders.

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.