An update on diagnostic options and considerations in limb-girdle dystrophies
Author:
Affiliation:
1. Neuromuscular Center, San Camillo Hospital IRCCS, Venice, Italy
Funder
Fondazione Telethon
Publisher
Informa UK Limited
Subject
Pharmacology (medical),Clinical Neurology,General Neuroscience
Link
https://www.tandfonline.com/doi/pdf/10.1080/14737175.2018.1508997
Reference56 articles.
1. ON THE CLASSIFICATION, NATURAL HISTORY AND TREATMENT OF THE MYOPATHIES
2. Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limbgirdle dystrophies
3. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
4. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
5. Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene
Cited by 36 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. Experiência de um único centro em distrofia muscular de cinturas do tipo autossômica recessiva: série de casos e revisão de literatura;Journal Archives of Health;2024-07-09
2. LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A (CALPAINOPATHY): CLINICAL OBSERVATION;Bulletin of Problems Biology and Medicine;2024
3. MicroRNA as potential biomarker for severity, progression, and therapeutic monitoring in animal models of limb-girdle muscular dystrophy: a systematic review;Frontiers in Cellular Neuroscience;2023-12-07
4. Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review;Arquivos de Neuro-Psiquiatria;2023-10
5. A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene;Frontiers in Neurology;2023-09-27
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