Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-020-01789-0.pdf
Reference79 articles.
1. Abolghasemi H, Amid A, Zeinali S, Radfar MH, Eshghi P, Rahiminejad MS, Ehsani MA, Najmabadi H, Akbari MT, Afrasiabi A (2007) Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol 29:233–238
2. Abraham M, van der Spoel D, Lindahl E, Hess B (2015) the GROMACS development team GROMACS User Manual version 5.1. 2; 2016. SoftwareX 1:19
3. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248
4. Ahn E-J, Yum M-S, Kim E-H, Yoo H-W, Lee BH, Kim G-H, Ko T-S (2017) Genotype-phenotype correlation of SMN1 and NAIP deletions in Korean patients with spinal muscular atrophy. J Clin Neurol 13:27–31
5. Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E (2009) Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet 125:29–39
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. Current advance on distal myopathy genetics;Current Opinion in Neurology;2024-07-16
2. Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature;Neuromuscular Disorders;2024-04
3. Innovating spinal muscular atrophy models in the therapeutic era;Disease Models & Mechanisms;2023-09-01
4. Extension of the DNAJB2a isoform in a dominant neuromyopathy family;Human Molecular Genetics;2023-04-18
5. Whole exome sequencing provides a diagnosis of spinal muscular atrophy pedigree with SMN1 “2+0” genotype;2022-10-11
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