Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?

Published:2022-06 Issue:6 Volume:32 Page:512-515
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

de Carvalho Nunes Gabriela^ORCID,Grenier Karl,Maedler Kron Chelsea,Kitzler Thomas,Helou Janine El,Rosenblatt David S.,Olivier François

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference25 articles.

1. Centronuclear (myotubular) myopathy;Jungbluth;Orphanet Journal of Rare Diseases,2008

2. A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study;Beggs;Muscle Nerve,2018

3. Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate;Taylor,2000

4. Congenital Myopathies;Lawlor,2014

5. X-linked myotubular myopathy: A prospective international natural history study;Annoussamy;Neurology,2019

Cited by 2 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. Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review;European Journal of Obstetrics & Gynecology and Reproductive Biology;2023-12

2. Update August 2022;Lymphatic Research and Biology;2022-08-01

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