Facioscapulohumeral Muscular Dystrophy Type 1A in Northwestern Tuscany: A Molecular Genetics-based Epidemiological and Genotype–Phenotype Study
Author:
Affiliation:
1. Department of Neuroscience, University of Pisa, 56126 Pisa, Italy.
2. Department of Genetics, University of Pavia, 27100 Pavia, Italy.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2005.9.30
Reference36 articles.
1. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing
2. Early diagnosis of Duchenne muscular dystrophy
3. Facioscapulohumeral muscular dystrophy
4. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD)
5. Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric KpnI Repeat Units Implicated in Facioscapulohumeral Muscular Dystrophy
Cited by 11 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. Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target;Redox Biology;2022-05
2. Interplay between mitochondria and reactive oxygen and nitrogen species in metabolic adaptation to hypoxia in facioscapulohumeral muscular dystrophy: potential therapeutic targets;2021-09-08
3. Cellular and animal models for facioscapulohumeral muscular dystrophy;Disease Models & Mechanisms;2020-10-01
4. Management strategies in facioscapulohumeral muscular dystrophy;Intractable & Rare Diseases Research;2019-02-28
5. At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy—Are We Closer to Effective Treatment for Patients?;International Journal of Molecular Sciences;2018-05-16
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