Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene

被引：0
|
作者：
Cai Shuang
Lin Jie
Liu Yi-Qi
Lu Jia-Hong
Zhao Chong-Bo
机构：
[1] DepartmentofNeurology,HuashanHospital,FudanUniversity,Shanghai,China
来源：
中华医学杂志英文版 | 2018年 / 131卷 / 19期
关键词：
D O I：
暂无
中图分类号：
R741 [神经病学];
学科分类号：
摘要：
<正>
引用
收藏
相关论文
共 50 条
  • [1] Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene
    Cai, Shuang
    Lin, Jie
    Liu, Yi-Qi
    Lu, Jia-Hong
    Zhao, Chong-Bo
    CHINESE MEDICAL JOURNAL, 2018, 131 (19) : 2371 - 2372
  • [2] Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy
    Xu, Xiaomin
    Yang, Xiaokai
    Su, Zhongliang
    Wang, Hai
    Li, Xiaoqing
    Sun, Congcong
    Wang, Wenhuan
    Chen, Yao
    Zhang, Chenhui
    Zhang, Hongping
    Jin, Fan
    Zheng, Jiayong
    FRONTIERS IN NEUROSCIENCE, 2020, 14
  • [3] Giant axonal neuropathy (GAN) caused by mutations in the gigaxonin gene.
    Kuhlenbaumer, G
    Young, P
    Oberwittler, C
    Ringelstein, B
    Stogbauer, F
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 599 - 599
  • [4] Giant Axonal Neuropathy Caused by a Novel Compound Heterozygous Mutation in the Gigaxonin Gene
    Xu, Min
    Da, Yu-wei
    Liu, Lu
    Wang, Fen
    Jia, Jian-ping
    JOURNAL OF CHILD NEUROLOGY, 2013, 28 (10) : 1316 - 1319
  • [5] Two novel mutations in the GAN gene causing giant axonal neuropathy
    Irad Normendez-Martinez, Monica
    Monterde-Cruz, Lucero
    Martinez, Roberto
    Marquez-Harper, Magdalena
    Esquitin-Garduno, Nayelli
    Valdes-Flores, Margarita
    Casas-Avila, Leonora
    Ponce de Leon-Suarez, Valeria
    Javier Romero-Diaz, Viktor
    Hidalgo-Bravo, Alberto
    WORLD JOURNAL OF PEDIATRICS, 2018, 14 (03) : 298 - 304
  • [6] Two novel mutations in the GAN gene causing giant axonal neuropathy
    Monica Irad Normendez-Martínez
    Lucero Monterde-Cruz
    Roberto Martínez
    Magdalena Marquez-Harper
    Nayelli Esquitin-Garduño
    Margarita Valdes-Flores
    Leonora Casas-Avila
    Valeria Ponce de Leon-Suarez
    Viktor Javier Romero-Díaz
    Alberto Hidalgo-Bravo
    World Journal of Pediatrics, 2018, 14 : 298 - 304
  • [7] Giant Axonal Neuropathy Caused by Compound Heterozygosity for a Maternally Inherited Microdeletion and a Paternal Mutation Within the GAN Gene
    Buysse, Karen
    Vergult, Sarah
    Mussche, Silke
    Ceuterick-de Groote, Chantal
    Speleman, Frank
    Menten, Bjorn
    Lissens, Willy
    Van Coster, Rudy
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (11) : 2802 - 2804
  • [8] Giant axonal neuropathy (GAN):: Case report and two novel mutations in the gigaxonin gene
    Kuhlenbäumer, G
    Young, P
    Oberwittler, C
    Hünermund, G
    Schirmacher, A
    Domschke, K
    Ringelstein, B
    Stögbauer, F
    NEUROLOGY, 2002, 58 (08) : 1273 - 1276
  • [9] A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer
    Kang, James J.
    Liu, Isabelle Y.
    Wang, Marilene B.
    Srivatsan, Eri S.
    HUMAN GENETICS, 2016, 135 (07) : 675 - 684
  • [10] A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer
    James J. Kang
    Isabelle Y. Liu
    Marilene B. Wang
    Eri S. Srivatsan
    Human Genetics, 2016, 135 : 675 - 684
12345