Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot–Marie

Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot–Marie–Tooth disease

Published:2020-11-02 Issue:12 Volume:7 Page:2381-2392
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann. Clin. Transl. Neurol.

Author:

Chen Cong‐Xin¹²^ORCID,Li Jia‐Qi¹,Dong Hai‐Lin¹,Liu Gong‐Lu¹,Bai Ge³,Wu Zhi‐Ying¹

Affiliation:

1. Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China

2. Department of Neurology and Institute of Neurology First Affiliated Hospital Fujian Medical University Fuzhou China

3. NHC and CAMS Key Laboratory of Medical Neurobiology MOE Frontier Science Center for Brain Research and Brain‐Machine Integration School of Brain Science and Brain Medicine Zhejiang University Hangzhou China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51233

Reference39 articles.

1. Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

2. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

3. A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

5. Mutation analysis of ganglioside‐induced differentiation associated protein‐1 gene in Chinese Charcot‐Marie‐Tooth disease;Zhang RX;Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,2004

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects;Journal of Genetic Engineering and Biotechnology;2023-12

2. Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease;Journal of Translational Genetics and Genomics;2022

3. GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons;Biomedicines;2021-08-02