Spinal Muscular Atrophy: Huge Steps

Kelly Howel; Rebecca Gibb; Lee L. Rubi

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Spinal Muscular Atrophy: Huge Steps

机译：脊髓性肌萎缩：巨大的步骤

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I n 2016, Bloomberg published an article that described Lauren Gibbs, who was born with spinal muscular atrophy (SMA) and enrolled in a clinical trial for a drug called nusinersen. The story reported that Gibbs enjoyed wheelchair basketball but was known primarily for her defense because she didn’t have enough strength to heave the ball high enough to reach the rim. “After the second time I got the drug, I hit probably 50 baskets in a row,” said Gibbs, who later attended Baylor University.

机译：2016年，彭博社发表了一篇描述劳伦·吉布斯（Lauren Gibbs）的文章，他出生于脊髓性肌萎缩症（SMA），并参加了一项名为nusinersen的药物的临床试验。故事报道，吉布斯喜欢轮椅篮球，但主要以防守着称，因为她没有足够的力量将球拉高到篮筐的高度。吉布斯说：“在我第二次拿到毒品后，我大概连续打了50个篮子。”

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《Cerebrum: the Dana Forum on Brain Science》 |2019年第march期|共页
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Kelly Howel; Rebecca Gibb; Lee L. Rubi;
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中图分类神经病学与精神病学;
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1. Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps [J] . Baker Mei, Griggs Robert, Byrne Barry, JAMA neurology . 2019,第8期

机译：通过新生儿筛查最大化Pompe疾病，脊柱肌肉萎缩和Duchenne肌营养不良的救生处理的益处：基本步骤
2. The international spinal muscular atrophy (SMA) registry: longitudinal collection and refinement of outcome measures for spinal muscular atrophy [J] . Scoto M., Muntoni F., Hall S., Neuromuscular disorders: NMD . 2019,第Suppla1期

机译：国际脊柱肌肉萎缩（SMA）登记处：纵向收集和改进脊髓肌萎缩的结果措施
3. Nucleic Acid–Targeted Small Molecules have Therapeutic Potential in the Treatment of Spinal Muscular Atrophy: Small‐molecule drugs that can selectively bind RNA and modulate pre‐mRNA splicing have potential as a treatment strategy for human disease, including spinal muscular atrophy [J] . American journal of medical genetics, Part A . 2018,第8期

机译：核酸靶心的小分子在治疗脊柱肌萎缩中具有治疗潜力：可以选择性地结合RNA并调节前mRNA剪接的小分子药物作为人类疾病的治疗策略，包括脊柱肌肉萎缩
4. A Motor Imagery-based Brain-Computer Interface Scheme for a Spinal Muscular Atrophy Subject in CYBATHLON Race [C] . Shi-Chun Bao, Kai Yuan, Cheng Chen, International IEEE/EMBS Conference on Neural Engineering . 2021

机译：基于电机图像的脑电电脑界面方案，用于Cybathlon Race中的脊柱肌肉萎缩课程
5. Linking Transcriptional Dysregulation to Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [D] . Pourshafie, Naemeh. 2020

机译：将转录失调与线粒体功能障碍连接到脊柱和泡杆肌萎缩中的线粒体功能障碍
6. Spinal Muscular Atrophy: Huge Steps [O] . Kelly Howell, Rebecca M. Gibbs, Lee L. Rubin 2019

机译：脊髓性肌萎缩：巨大的步骤
7. Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy? [O] . Boltshauser, E, Lang, W, Spillmann, T, 1989

机译：遗传性远端肌萎缩伴声带麻痹和感觉神经性听力丧失：脊髓性肌萎缩的主要形式？

Spinal Muscular Atrophy: Huge Steps

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