Spinal muscular atrophy: Advances in research and consensus on care of patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology
Link
http://link.springer.com/content/pdf/10.1007/s11940-008-0044-7.pdf
Reference51 articles.
1. Munsat TL: International SMA Collaboration. Neuromuscul Disord 1991, 1:81.
2. Russman BS: Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol 2007, 22:946–951.
3. Lefebvre S, Burglen L, Reboullet S, et al.: Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155–165.
4. Burglen L, Lefebvre S, Clermont O, et al.: Structure and organization of the human survival motor neurone (SMN) gene. Genomics 1996, 32:479–482.
5. Hahnen E, Forkert R, Marke C, et al.: Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995, 4:1927–1933.
Cited by 22 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. The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration;International Journal of Molecular Sciences;2023-01-23
2. Spinal muscular atrophy carrier frequency in Saudi Arabia;Molecular Genetics & Genomic Medicine;2022-09-05
3. Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy;Neuromuscular Disorders;2021-05
4. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next;Brain Research;2020-04
5. A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2);Frontiers in Pediatrics;2020-02-28
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