Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy.
作者信息
Finkel Richard S, Schara-Schmidt Ulrike, Hagenacker Tim
机构信息
Experimental Neurotherapeutics Program, St. Jude Children's Research Hospital, Memphis, TN, United States.
Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University Hospital Essen, Essen, Germany.
出版信息
Front Neurol. 2020 Jul 28;11:783. doi: 10.3389/fneur.2020.00783. eCollection 2020.
Abstract
摘要
相似文献
1
Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy.社论：脊髓性肌萎缩症：现代疗法的演进与变革
Front Neurol. 2020 Jul 28;11:783. doi: 10.3389/fneur.2020.00783. eCollection 2020.
2
Therapeutic strategies for spinal muscular atrophy: SMN and beyond.脊髓性肌萎缩症的治疗策略：生存运动神经元蛋白及其他
Dis Model Mech. 2017 Aug 1;10(8):943-954. doi: 10.1242/dmm.030148.
3
The survival motor neuron protein in spinal muscular atrophy.脊髓性肌萎缩症中的存活运动神经元蛋白。
Hum Mol Genet. 1997 Aug;6(8):1205-14. doi: 10.1093/hmg/6.8.1205.
4
Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.印度患者中SMN和NAIP基因缺失模式与脊髓性肌萎缩症临床特征的相关性
Neurol India. 2006 Sep;54(3):255-9. doi: 10.4103/0028-3886.27147.
5
Loganin possesses neuroprotective properties, restores SMN protein and activates protein synthesis positive regulator Akt/mTOR in experimental models of spinal muscular atrophy.马钱苷具有神经保护特性，可恢复运动神经元生存蛋白（SMN）并在脊髓性肌萎缩症实验模型中激活蛋白质合成正向调节因子Akt/哺乳动物雷帕霉素靶蛋白（mTOR）。
Pharmacol Res. 2016 Sep;111:58-75. doi: 10.1016/j.phrs.2016.05.023. Epub 2016 May 27.
6
SMN Blood Levels in a Porcine Model of Spinal Muscular Atrophy.脊髓性肌萎缩症猪模型中的运动神经元存活基因血药浓度。
J Neuromuscul Dis. 2017;4(1):59-66. doi: 10.3233/JND-170209.
7
Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy.非SMN相关与SMN相关脊髓性肌萎缩之间的分子串扰
Neurosci Insights. 2020 Mar 30;15:2633105520914301. doi: 10.1177/2633105520914301. eCollection 2020.
8
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.CHP1 减少通过恢复钙调神经磷酸酶活性和内吞作用改善脊髓性肌萎缩症病理。
Brain. 2018 Aug 1;141(8):2343-2361. doi: 10.1093/brain/awy167.
9
ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy.ZPR1 可防止 R 环积累，上调 SMN2 表达并挽救脊髓性肌萎缩症。
Brain. 2020 Jan 1;143(1):69-93. doi: 10.1093/brain/awz373.
10
Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy.线粒体转运和形态异常作为脊髓性肌萎缩症人类模型中的早期病理变化。
Dis Model Mech. 2016 Jan;9(1):39-49. doi: 10.1242/dmm.021766. Epub 2015 Nov 19.
引用本文的文献
1
Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study.脊髓性肌萎缩症管理中不确定性下的治疗决策：DECISIONS-SMA研究结果
Neurol Ther. 2022 Sep;11(3):1209-1219. doi: 10.1007/s40120-022-00366-4. Epub 2022 Jun 3.
2
Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol.在不确定情况下治疗脊髓性肌萎缩症的决策：DECISIONS-SMA 研究方案。
PLoS One. 2022 Feb 15;17(2):e0264006. doi: 10.1371/journal.pone.0264006. eCollection 2022.
3
Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study).一项非干预性研究的设计，旨在验证一组以患者和照护者为导向的测量方法，以评估脊髓性肌萎缩症的健康结局（SMA-TOOL研究）。
Neurol Ther. 2021 Jun;10(1):361-373. doi: 10.1007/s40120-020-00229-w. Epub 2021 Jan 9.
本文引用的文献
1
Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review.成人大 SMA 患者的健康、福利和生活体验：范围系统综述。
Orphanet J Rare Dis. 2020 Mar 12;15(1):70. doi: 10.1186/s13023-020-1339-3.
2
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2.针对通过新生儿筛查诊断为脊髓性肌萎缩且具有4份SMN2基因拷贝的婴儿的治疗修订建议。
J Neuromuscul Dis. 2020;7(2):97-100. doi: 10.3233/JND-190468.
3
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.第244届ENMC国际研讨会：脊髓性肌萎缩症的新生儿筛查，2019年5月10日至12日，荷兰霍夫多普
Neuromuscul Disord. 2020 Jan;30(1):93-103. doi: 10.1016/j.nmd.2019.11.002. Epub 2019 Nov 9.
4
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.在脊髓性肌萎缩症的前症状期对婴儿期开始用 nusinersen：2 期 NURTURE 研究的中期疗效和安全性结果。
Neuromuscul Disord. 2019 Nov;29(11):842-856. doi: 10.1016/j.nmd.2019.09.007. Epub 2019 Sep 12.
5
Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study.5q 型脊髓性肌萎缩症成年患者使用 nusinersen 的安全性和治疗效果：一项前瞻性观察研究。
J Neuromuscul Dis. 2019;6(4):453-465. doi: 10.3233/JND-190416.
6
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.依库珠单抗治疗晚发性脊髓性肌萎缩症的疗效观察：一项随机、双盲、安慰剂对照 3 期试验
N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.
7
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.依库珠单抗治疗婴儿型脊髓性肌萎缩症的疗效观察
N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.
8
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.脊髓性肌萎缩症的单剂量基因治疗。
N Engl J Med. 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198.
9
Spinal muscular atrophy: A changing phenotype beyond the clinical trials.脊髓性肌萎缩症：临床试验之外不断变化的表型。
Neuromuscul Disord. 2017 Oct;27(10):883-889. doi: 10.1016/j.nmd.2017.05.011. Epub 2017 May 17.
10
Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients.疾病对欧洲II型和III型脊髓性肌萎缩症患者总体健康状况及治疗期望的影响。
Neuromuscul Disord. 2017 May;27(5):428-438. doi: 10.1016/j.nmd.2017.01.018. Epub 2017 Feb 3.
Zotero 插件