A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Link
http://link.springer.com/content/pdf/10.1007/s10897-013-9584-4
Reference106 articles.
1. 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26–28 September 1997, Naarden, The Netherlands. (1998). Neuromuscul Disord, 8(6), 426–431.
2. Andersson, P. B., Yuen, E., Parko, K., & So, Y. T. (2000). Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology, 54(1), 40–44.
3. Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S. Q., et al. (2003). Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. American Journal of Human Genetics, 72(5), 1293–1299.
4. Arnold, A., McEntagart, M., & Younger, D. S. (2005). Psychosocial issues that face patients with Charcot-Marie-Tooth disease: the role of genetic counseling. Journal of Genetic Counseling, 14(4), 307–318.
5. Auer-Grumbach, M., De Jonghe, P., Wagner, K., Verhoeven, K., Hartung, H. P., & Timmerman, V. (2000). Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus. Neurology, 55(10), 1552–1557.
Cited by 22 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. Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease;Neurología (English Edition);2024-03
2. Charcot-Marie-Tooth Atrophy: A Case Report and Literature Review;Advances in Clinical Medicine;2023
3. Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report;Journal of International Medical Research;2022-12
4. Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages;Balkan Medical Journal;2022-01-24
5. Identification of Rpd3 as a novel epigenetic regulator of Drosophila FIG 4, a Charcot-Marie-Tooth disease-causing gene;NeuroReport;2021-04-12
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