Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease

被引：0
|
作者：
Luo, Wei [1 ]
Tang, Bei-Sha [1 ]
Zhao, Guo-Hua [1 ]
Li, Qi [2 ]
Xiao, Jian-Feng [1 ]
Yang, Qi-Dong [1 ]
Xia, Jia-Hui [2 ]
机构：
[1] Department of Neurology, Natl. Key Lab. of Medical Genetics, Central South University, Changsha, Hunan 410008, China
[2] Xiangya Hospital, Natl. Key Lab. of Medical Genetics, Central South University, Changsha, Hunan 410008, China
来源：
Chinese Journal of Medical Genetics | 2003年 / 20卷 / 02期
关键词：
Mutation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：169 / 170
相关论文
共 50 条
  • [41] Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review
    Cordeiro, Joana L. C.
    Marques, Wilson, Jr.
    Hallak, Jaime E. C.
    Osorio, Flavia L.
    ASN NEURO, 2014, 6 (03): : 185 - 192
  • [42] LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond
    Palaima, Paulius
    Berciano, Jose
    Peeters, Kristien
    Jordanova, Albena
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [43] Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
    Taniguchi, Takaki
    Ando, Masahiro
    Okamoto, Yuji
    Yoshimura, Akiko
    Higuchi, Yujiro
    Hashiguchi, Akihiro
    Matsuda, Nozomu
    Yamamoto, Mamoru
    Dohi, Eisuke
    Takahashi, Makoto
    Yoshino, Masanao
    Nomura, Taichi
    Matsushima, Masaaki
    Yabe, Ichiro
    Sanpei, Yui
    Ishiura, Hiroyuki
    Mitsui, Jun
    Nakagawa, Masanori
    Tsuji, Shoji
    Takashima, Hiroshi
    JOURNAL OF HUMAN GENETICS, 2022, 67 (06) : 353 - 362
  • [44] Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?
    Zhang, Han
    Zhou, Zhong-Wei
    Sun, Litao
    JOURNAL OF NEUROCHEMISTRY, 2021, 157 (03) : 351 - 369
  • [45] Spatial selectivity of ATase inhibition in mouse models of Charcot-Marie-Tooth disease
    Fernandez-Fuente, Gonzalo
    Farrugia, Mark A.
    Peng, Yajing
    Schneider, Andrew
    Svaren, John
    Puglielli, Luigi
    BRAIN COMMUNICATIONS, 2024, 6 (04)
  • [46] Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
    Jacquier, Arnaud
    Risson, Valerie
    Schaeffer, Laurent
    JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, 2019, (143):
  • [47] Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients
    Sun, Bo
    He, Zheng-Qing
    Li, Yan-Ran
    Bai, Jiong-Ming
    Wang, Hao-Ran
    Wang, Hong-Fen
    Cui, Fang
    Yang, Fei
    Huang, Xu-Sheng
    ACTA NEUROLOGICA BELGICA, 2022, 122 (05) : 1169 - 1175
  • [48] Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease
    Houlden, Henry
    Reilly, Mary M.
    NEUROMOLECULAR MEDICINE, 2006, 8 (1-2) : 43 - 62
  • [49] Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
    Record, Christopher J.
    Pipis, Menelaos
    Skorupinska, Mariola
    Blake, Julian
    Poh, Roy
    Polke, James M.
    Eggleton, Kelly
    Nanji, Tina
    Zuchner, Stephan
    Cortese, Andrea
    Houlden, Henry
    Rossor, Alexander M.
    Laura, Matilde
    Reilly, Mary M.
    BRAIN, 2024, 147 (09) : 3144 - 3156
  • [50] A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1
    Yoshihara, T
    Kanda, F
    Yamamoto, M
    Ishihara, H
    Misu, K
    Hattori, N
    Chihara, K
    Sobue, G
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2001, 184 (02) : 149 - 153
12345