Management of neuromuscular diseases and spinal muscular atrophy in Latin America
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Molecular Medicine
Link
https://www.nature.com/articles/gt201768.pdf
Reference24 articles.
1. Monani UR, De Vivo DC . Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond. Future Neurol 2014; 9: 49–65.
2. Cusin V, Clermont O, Gerard B, Chantereau D, Elion J . Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 2003; 40: e39.
3. Alias L, Barcelo MJ, Bernal S, Martinez-Hernandez R, Also-Rallo E, Vazquez C et al. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene. Clin Genet 2014; 85: 470–475.
4. Newsletter Institute of Myology. Available at: http://www.institut-yologie.org/en/newsletter/newsletter accessed on 27 January 2017.
5. Bueno KC, Gouvea SP, Genari AB, Funayama CA, Zanette DL, Silva WA Jr et al. Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. Neuroepidemiology 2011; 36: 105–108.
Cited by 6 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. Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening;Genes;2024-06-29
2. A self-reported Brazilian registry of spinal muscular atrophy: data from natural history, genetic characteristics, and multidisciplinary care;2023-07-20
3. Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population;Genes;2022-06-16
4. Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children;Journal of Neuromuscular Diseases;2020-09-18
5. Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile;Arquivos de Neuro-Psiquiatria;2019-07
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