Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy-Reference-Cited by-同舟云学术

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Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy

Published:2020-02-25 Issue: Volume:14 Page:
ISSN:1662-453X
Container-title:Frontiers in Neuroscience
language:
Short-container-title:Front. Neurosci.

Author:

Xu Xiaomin,Yang Xiaokai,Su Zhongliang,Wang Hai,Li Xiaoqing,Sun Congcong,Wang Wenhuan,Chen Yao,Zhang Chenhui,Zhang Hongping,Jin Fan,Zheng Jiayong

Funder

Natural Science Foundation of Zhejiang Province

Publisher

Frontiers Media SA

Subject

General Neuroscience

Reference22 articles.

1. Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.;Allen;Nature,2005

2. Giant axonal neuropathy–a unique case with segmental neurofilamentous masses.;Asbury;Acta Neuropathol.,1972

3. Giant axonal neuropathy.;Berg;Pediatrics,1972

4. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.;Bomont;Nat. Genet.,2000

5. Clinical and molecular findings in patients with giant axonal neuropathy (GAN).;Bruno;Neurology,2004

Cited by 5 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. Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations;Cureus;2024-02-17

2. Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families;Molecular Genetics & Genomic Medicine;2023-03-03

3. Genetic Approaches for the Treatment of Giant Axonal Neuropathy;Journal of Personalized Medicine;2022-12-30

4. Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report;Molecular Biology Reports;2022-06-28

5. Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India;Molecular Biology Reports;2021-02

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