Lafora disease: from genotype to phenotype
Author:
Funder
Science and Engineering Research Board
Department of Biotechnology , Ministry of Science and Technology
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s12041-018-0949-1.pdf
Reference137 articles.
1. Aguado C., Sarkar S., Korolchuk V. I., Criado O., Vernia S., Boya P. et al. 2010 Laforin, the most common protein mutated in Lafora disease, regulates autophagy. Hum. Mol. Genet. 19, 2867–2876.
2. Annesi G., Sofia V., Gambardella A., Candiano I. C., Spadafora P., Annesi F. et al. 2004 A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. Epilepsia 45, 294–295.
3. Berthier A., Payá M., García-Cabrero A. M., Ballester M. I., Heredia M., Serratosa J. M. et al. 2015 Pharmacological interventions to ameliorate neuropathological symptoms in a mouse model of Lafora disease. Mol. Neurobiol. 53, 1296–1309.
4. Cardinali S., Canafoglia L., Bertoli S., Franceschetti S., Lanzi G., Tagliabue A. et al. 2006 A pilot study of a ketogenic diet in patients with Lafora body disease. Epilepsy Res. 69, 129–134.
5. Chan E. M., Bulman D. E., Paterson A. D., Turnbull J., Andermann E., Andermann F. et al. 2003a Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. J. Med. Genet. 40, 671–675.
Cited by 21 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. Retinal vascular pathology in a mouse model of Lafora progressive myoclonus epilepsy;Neuroscience Research;2024-07
2. Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts;Journal of Biosciences;2024-01-20
3. Lafora Disease: A Case Report and Evolving Treatment Advancements;Brain Sciences;2023-12-06
4. Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder;Frontiers in Neurology;2023-11-14
5. Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data;Orphanet Journal of Rare Diseases;2023-09-02
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