相似文献
1
Batten disease: an expert update on agents in preclinical and clinical trials.巴滕病：临床前和临床试验中药物的专家最新进展
Expert Opin Investig Drugs. 2020 Dec;29(12):1317-1322. doi: 10.1080/13543784.2020.1837110. Epub 2020 Nov 1.
2
Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease).婴儿神经元蜡样脂褐质沉积症（婴儿型巴滕病）的治疗考量
J Child Neurol. 2013 Sep;28(9):1151-8. doi: 10.1177/0883073813495960.
3
Valproate-induced hyperammonemia in juvenile ceroid lipofuscinosis (Batten disease).丙戊酸盐诱发的青少年蜡样脂褐质沉积症（巴滕病）中的高氨血症
Seizure. 2014 Jun;23(6):429-34. doi: 10.1016/j.seizure.2014.02.011. Epub 2014 Feb 28.
4
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.罕见病临床研究方法学：通过创建患者登记系统和与患者权益维护者合作，开发青少年神经元蜡样脂褐质沉积症（JNCL）研究计划
Contemp Clin Trials. 2013 Jul;35(2):48-54. doi: 10.1016/j.cct.2013.04.004. Epub 2013 Apr 26.
5
Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2.Cerliponase Alfa 综述：用于晚发性婴儿神经元蜡样脂褐质沉积症 2 型的重组人酶替代治疗。
J Child Neurol. 2020 Apr;35(5):348-353. doi: 10.1177/0883073819895694. Epub 2019 Dec 29.
6
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.口服酒石酸半胱胺和N-乙酰半胱氨酸治疗婴儿神经元蜡样脂褐质沉积症患者：一项初步研究。
Lancet Neurol. 2014 Aug;13(8):777-87. doi: 10.1016/S1474-4422(14)70142-5. Epub 2014 Jul 2.
7
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).青少年神经元蜡样脂褐质沉积症（巴滕病）的神经行为特征及自然病史。
J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813.
8
[Electrophysiologic findings in neuronal ceroid-lipofuscinosis (Batten-Spielmayer-Vogt)].神经元蜡样脂褐质沉积症（巴滕-施皮尔迈尔-沃格特病）的电生理检查结果
Fortschr Ophthalmol. 1982;79(4):364-6.
9
Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).婴儿神经元蜡样脂褐质沉积症（婴儿型CLN1病）的发病机制与治疗方法
Biochim Biophys Acta. 2013 Nov;1832(11):1906-9. doi: 10.1016/j.bbadis.2013.05.026. Epub 2013 Jun 6.
10
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.神经元蜡样脂褐质沉积症的现行和新兴治疗策略。
CNS Drugs. 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8.
引用本文的文献
1
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.口服海藻糖治疗神经元蜡样脂褐质沉积症患者的开放标签评估
J Neurol. 2025 Jan 7;272(1):94. doi: 10.1007/s00415-024-12790-7.
2
Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat.药物重定位与溶酶体贮积症：治疗的新策略
Genes (Basel). 2024 Feb 25;15(3):290. doi: 10.3390/genes15030290.
3
A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis.一种分析三肽基肽酶 1 错义突变对神经元蜡样脂褐质沉积症的功能和结构影响的计算方法。
Metab Brain Dis. 2024 Apr;39(4):545-558. doi: 10.1007/s11011-024-01341-8. Epub 2024 Jan 8.
4
Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.通过视觉电生理学和多模态成像实现 CLN3 疾病的早期识别。
Doc Ophthalmol. 2023 Jun;146(3):241-256. doi: 10.1007/s10633-023-09930-1. Epub 2023 Mar 25.
5
The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample.统一脑腱黄瘤病评定量表（UBDRS）：在独立的 CLN3 疾病样本中的验证和可靠性。
Eur J Paediatr Neurol. 2022 May;38:62-65. doi: 10.1016/j.ejpn.2022.03.005. Epub 2022 Apr 4.
6
Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies.神经退行性疾病：剪接缺陷的温床和潜在的治疗方法。
Transl Neurodegener. 2021 May 20;10(1):16. doi: 10.1186/s40035-021-00240-7.
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.
Zotero 插件