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本文引用的文献

1
Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity.神经元蜡样脂褐质沉积病（NCL）中的心脏病理学：不仅仅是一种合并症。
Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165643. doi: 10.1016/j.bbadis.2019.165643. Epub 2019 Dec 19.
2
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.患者定制型寡核苷酸疗法治疗罕见遗传病。
N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9.
3
Combination therapy with nusinersen and AVXS-101 in SMA type 1.诺西那生钠与AVXS-101联合治疗1型脊髓性肌萎缩症。
Neurology. 2019 Oct 1;93(14):640-641. doi: 10.1212/WNL.0000000000008207. Epub 2019 Sep 5.
4
Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease.基因治疗纠正 CLN6 神经鞘脂贮积症的脑和行为病理学。
Mol Ther. 2019 Oct 2;27(10):1836-1847. doi: 10.1016/j.ymthe.2019.06.015. Epub 2019 Jul 10.
5
Therapeutic landscape for Batten disease: current treatments and future prospects.Batten 病的治疗性景观：现有治疗方法和未来前景。
Nat Rev Neurol. 2019 Mar;15(3):161-178. doi: 10.1038/s41582-019-0138-8.
6
Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease.体内纵向监测中枢神经系统证明了基因治疗在 CLN5 神经鞘脂贮积病绵羊模型中的疗效。
Mol Ther. 2018 Oct 3;26(10):2366-2378. doi: 10.1016/j.ymthe.2018.07.015. Epub 2018 Jul 17.
7
Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis).霉酚酸酯的短期给药在CLN3病（青少年神经元蜡样脂褐质沉积症）中耐受性良好。
JIMD Rep. 2019;43:117-124. doi: 10.1007/8904_2018_113. Epub 2018 Jun 20.
8
Study of Intraventricular Cerliponase Alfa for CLN2 Disease.鞘内注射氯苯唑酸软胶囊治疗 CLN2 病的研究。
N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.
9
Synergistic effects of treating the spinal cord and brain in CLN1 disease.同时治疗 CLN1 病的脊髓和大脑的协同作用。
Proc Natl Acad Sci U S A. 2017 Jul 18;114(29):E5920-E5929. doi: 10.1073/pnas.1701832114. Epub 2017 Jul 3.
10
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis.吉非贝齐，一种经美国食品药品监督管理局批准的降脂药物，可延长晚发性婴儿神经元蜡样脂褐质沉积症小鼠模型的寿命。
J Neurochem. 2017 May;141(3):423-435. doi: 10.1111/jnc.13987. Epub 2017 Apr 3.

Batten disease: an expert update on agents in preclinical and clinical trials.

作者信息

Masten Margaux C, Mink Jonathan W, Augustine Erika F

机构信息

University of Rochester Division of Child Neurology, Box 631, University of Rochester Medical Center , Rochester, NY, USA.

出版信息

Expert Opin Investig Drugs. 2020 Dec;29(12):1317-1322. doi: 10.1080/13543784.2020.1837110. Epub 2020 Nov 1.

DOI:10.1080/13543784.2020.1837110
PMID:33135495
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7736171/
Abstract
摘要