登录 注册 会员服务 联系我们

Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure

  • Published:2021-11-28 Issue: Volume: Page:
  • ISSN:1590-1874
  • Container-title:Neurological Sciences
  • language:en
  • Short-container-title:Neurol Sci

Author:

Lv Xiaoqing,Zhao Bing,Xu Ling,Jiang Wei,Dai Tingjun,Zhao Dandan,Lin PengfeiORCID,Yan Chuanzhu

Funder

Taishan Scholars Program of Shandong Province

the 20 policy supported projects of collaborative innovation and achievement transformation in universities and research institutes of Jinan

Qingdao Key Health Discipline Development Fund

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Reference19 articles.

1. Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttila S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B (2019) Expanding the importance of HMERF titinopathy: new mutations and clinical aspects. J Neurol 266(3):680–690. https://doi.org/10.1007/s00415-019-09187-2

2. Tasca G, Udd B (2018) Hereditary myopathy with early respiratory failure (HMERF): still rare, but common enough. Neuromuscul Disord 28(3):268–276. https://doi.org/10.1016/j.nmd.2017.12.002

3. Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I (2015) Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry 86(5):483–489. https://doi.org/10.1136/jnnp-2014-309009

4. Uapinyoying P, Goecks J, Knoblach SM, Panchapakesan K, Bonnemann CG, Partridge TA, Jaiswal JK, Hoffman EP (2020) A long-read RNA-seq approach to identify novel transcripts of very large genes. Genome Res 30(6):885–897. https://doi.org/10.1101/gr.259903.119

5. Yue D, Gao M, Zhu W, Luo S, Xi J, Wang B, Li Y, Cai S, Li J, Wang Y, Lu J, Zhao C (2015) New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. Neuromuscul Disord 25(2):172–176. https://doi.org/10.1016/j.nmd.2014.11.005

Cited by 1 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

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