The 3rd International Lafora Epilepsy Workshop: Evidence for a cure.
作者信息
Brewer M Kathryn, Gentry Matthew S
机构信息
Molecular and Cellular Biochemistry, Lafora Epilepsy Cure Initiative, UK Epilepsy Center, College of Medicine, University of Kentucky, Lexington, KY 40536, United States.
Molecular and Cellular Biochemistry, Lafora Epilepsy Cure Initiative, UK Epilepsy Center, College of Medicine, University of Kentucky, Lexington, KY 40536, United States.
出版信息
Epilepsy Behav. 2018 Apr;81:125-127. doi: 10.1016/j.yebeh.2017.12.015. Epub 2018 Feb 21.
Abstract
摘要
相似文献
1
The 3rd International Lafora Epilepsy Workshop: Evidence for a cure.第三届国际拉福拉癫痫研讨会：治愈的证据
Epilepsy Behav. 2018 Apr;81:125-127. doi: 10.1016/j.yebeh.2017.12.015. Epub 2018 Feb 21.
2
The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.第六届国际拉福拉癫痫研讨会：寻找治愈方法的新进展。
Epilepsy Behav. 2021 Jun;119:107975. doi: 10.1016/j.yebeh.2021.107975. Epub 2021 May 1.
3
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.第五届国际拉福拉癫痫研讨会：基础科学阐明治疗选择并为临床治疗做准备。
Epilepsy Behav. 2020 Feb;103(Pt A):106839. doi: 10.1016/j.yebeh.2019.106839. Epub 2020 Jan 10.
4
Lafora Body Epilepsy: A Challenging Diagnosis.拉福拉体病性癫痫：一项具有挑战性的诊断。
J Coll Physicians Surg Pak. 2022 Aug;32(8):S133-S135. doi: 10.29271/jcpsp.2022.Supp2.S133.
5
The 4th International Lafora Epilepsy Workshop: Shifting paradigms, paths to treatment, and hope for patients.第四届国际拉福拉癫痫研讨会：转变范式、治疗途径与患者希望
Epilepsy Behav. 2019 Jan;90:284-286. doi: 10.1016/j.yebeh.2018.11.014. Epub 2018 Dec 6.
6
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.PTG 耗竭去除 Lafora 小体并挽救 Lafora 病的致死性癫痫。
PLoS Genet. 2011 Apr;7(4):e1002037. doi: 10.1371/journal.pgen.1002037. Epub 2011 Apr 28.
7
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.拉福拉进行性肌阵挛癫痫中EPM2A基因的突变谱：高度的等位基因异质性和缺失的发生率
Eur J Hum Genet. 2000 Dec;8(12):946-54. doi: 10.1038/sj.ejhg.5200571.
8
Lafora disease: a case report.拉佛拉病：病例报告。
J Med Case Rep. 2022 Oct 3;16(1):360. doi: 10.1186/s13256-022-03537-x.
9
Genotypes and phenotypes of patients with Lafora disease living in Germany.居住在德国的拉福拉病患者的基因型和表型。
Neurol Res Pract. 2019;1. doi: 10.1186/s42466-019-0040-2. Epub 2019 Nov 12.
10
引用本文的文献
1
An empirical pipeline for personalized diagnosis of Lafora disease mutations.用于拉福拉病突变个性化诊断的经验性流程。
iScience. 2021 Oct 13;24(11):103276. doi: 10.1016/j.isci.2021.103276. eCollection 2021 Nov 19.
2
A novel gene therapy for neurodegenerative Lafora disease via -loaded DLinDMA lipoplexes.一种通过负载的二油酰基磷脂酰乙醇胺-二甲基胺（DLinDMA）脂质复合物治疗神经退行性拉福拉病的新型基因疗法。
Nanomedicine (Lond). 2021 Jun;16(13):1081-1095. doi: 10.2217/nnm-2020-0477. Epub 2021 May 7.
3
The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.第六届国际拉福拉癫痫研讨会：寻找治愈方法的新进展。
Epilepsy Behav. 2021 Jun;119:107975. doi: 10.1016/j.yebeh.2021.107975. Epub 2021 May 1.
4
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.第五届国际拉福拉癫痫研讨会：基础科学阐明治疗选择并为临床治疗做准备。
Epilepsy Behav. 2020 Feb;103(Pt A):106839. doi: 10.1016/j.yebeh.2019.106839. Epub 2020 Jan 10.
5
Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion.靶向拉罗汤加病致病性 Lafora 体的抗体酶融合物。
Cell Metab. 2019 Oct 1;30(4):689-705.e6. doi: 10.1016/j.cmet.2019.07.002. Epub 2019 Jul 25.
6
Central Nervous System Delivery and Biodistribution Analysis of an Antibody-Enzyme Fusion for the Treatment of Lafora Disease.用于治疗拉佛拉病的抗体-酶融合物的中枢神经系统传递和生物分布分析。
Mol Pharm. 2019 Sep 3;16(9):3791-3801. doi: 10.1021/acs.molpharmaceut.9b00396. Epub 2019 Aug 2.
7
The 4th International Lafora Epilepsy Workshop: Shifting paradigms, paths to treatment, and hope for patients.第四届国际拉福拉癫痫研讨会：转变范式、治疗途径与患者希望
Epilepsy Behav. 2019 Jan;90:284-286. doi: 10.1016/j.yebeh.2018.11.014. Epub 2018 Dec 6.
Zotero 插件