Novel GDAP1 Mutation in a Turkish Family with CMT2K (CMT2K with Novel GDAP1 Mutation)-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel GDAP1 Mutation in a Turkish Family with CMT2K (CMT2K with Novel GDAP1 Mutation)

Published:2009-04-19 Issue:2 Volume:11 Page:106-113
ISSN:1535-1084
Container-title:NeuroMolecular Medicine
language:en
Short-container-title:Neuromol Med

Author:

Sahin-Calapoglu Nilufer,Tan Meliha,Soyoz Mustafa,Calapoglu Mustafa,Ozcelik Nurten

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12017-009-8062-5.pdf

Reference30 articles.

1. Azzedine, H., Bolino, A., Taieb, T., Birouk, N., Di Duca, M., Bouhouche, A., et al. (2003a). Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot–Marie–Tooth disease associated with early-onset glaucoma. American Journal of Human Genetics, 72(5), 1141–1153. doi: 10.1086/375034 .

2. Azzedine, H., Ruberg, M., Ente, D., Gilardeau, C., Périé, S., Wechsler, B., et al. (2003b). Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscular Disorders, 13, 341–346.

3. Baez, S., Segura-Aguilar, J., Widersten, M., Johansson, A. S., & Mannervik, B. (1997). Glutathione transferases catalyse the detoxication of oxidized metabolites (o-quinones) of catecholamines and may serve as an antioxidant system preventing degenerative cellular processes. Biochemical Journal, 324(Pt 1), 25–28.

4. Baxter, R. V., Ben Othmane, K., Rochelle, J. M., Stajich, J. E., Hulette, C., Dew-Knight, S., et al. (2002). Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot–Marie–Tooth disease type 4A/8q21. Nature Genetics, 30, 21–22. doi: 10.1038/ng796 .

5. Ben Othmane, K., Hentatl, F., Lennon, F., Ben Hamida, C., Blel, S., Roses, A. D., et al. (1993). Linkage of a locus (CMT4A) for autosomal recessive Charcot–Marie–Tooth disease to chromosome 8q. Human Molecular Genetics, 2, 1625–1628. doi: 10.1093/hmg/2.10.1625 .

Cited by 7 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. Beneficial effects of a ketogenic diet in a woman with Charcot-Marie-Tooth disease;Archives of Food and Nutritional Science;2022-11-15

2. Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy;BMC Neurology;2021-03-02

3. Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease;Frontiers in Cell and Developmental Biology;2021-02-01

4. Genotype–phenotype correlation and frequency of distribution in a cohort of Chinese Charcot–Marie–Tooth patients associated with GDAP1 mutations;Journal of Neurology;2018-01-25

5. Inherited mitochondrial neuropathies;Journal of the Neurological Sciences;2011-05

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3