Identification of a novel mutation and genotype–phenotype relationship in MEGF10 myopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Identification of a novel mutation and genotype–phenotype relationship in MEGF10 myopathy

Published:2022-05 Issue:5 Volume:32 Page:436-440
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Fujii Kanako,Hirano Makito,Terayama Atsushi,Inada Rino,Saito Yoshihiko,Nishino Ichizo,Nagai Yoshitaka

Funder

Japan Agency for Medical Research and Development

Universita degli Studi del Piemonte Orientale Amedeo Avogadro

National Center of Neurology and Psychiatry

Publisher

Elsevier BV

Subject

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

Reference13 articles.

1. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD);Logan;Nat Genet,2011

2. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores;Boyden;Neurogenetics,2012

3. Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations;Liewluck;Muscle Nerve,2016

4. Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation;Takayama;Neuromuscul Disord,2016

5. Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions;Saha;Hum Mol Genet,2017

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. Cellular and molecular alterations to muscles and neuromuscular synapses in a mouse model of MEGF10-related myopathy;Skeletal Muscle;2024-05-17

2. The Notch signaling pathway in skeletal muscle health and disease;Muscle & Nerve;2022-08-15

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