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1
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.BICD2 缺失导致发育性脊髓性肌萎缩症中的运动神经元丧失。
Acta Neuropathol Commun. 2020 Mar 17;8(1):34. doi: 10.1186/s40478-020-00909-6.
2
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.基于 Rasch 分析的 CMT1A 神经病变和检查评分的纵向研究。
Neurology. 2020 Mar 3;94(9):e884-e896. doi: 10.1212/WNL.0000000000009035. Epub 2020 Feb 11.
3
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.RFC1 重复扩展导致的小脑性共济失调、神经病、前庭反射消失综合征。
Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.
4
HDAC6 inhibitors: Translating genetic and molecular insights into a therapy for axonal CMT.HDAC6 抑制剂：将遗传和分子见解转化为治疗轴索性 CMT 的疗法。
Brain Res. 2020 Apr 15;1733:146692. doi: 10.1016/j.brainres.2020.146692. Epub 2020 Jan 30.
5
Are we prepared for clinical trials in Charcot-Marie-Tooth disease?我们是否为 Charcot-Marie-Tooth 病的临床试验做好了准备？
Brain Res. 2020 Feb 15;1729:146625. doi: 10.1016/j.brainres.2019.146625. Epub 2019 Dec 30.
6
Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.Charcot-Marie-Tooth 病的下一代测序：机遇与挑战。
Nat Rev Neurol. 2019 Nov;15(11):644-656. doi: 10.1038/s41582-019-0254-5. Epub 2019 Oct 3.
7
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.遗传性运动感觉神经病和相关疾病：一个不断发展的领域。
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.基于生物信息学的重复序列鉴定：RFC1 中的非参考内含子五聚体扩展导致 CANVAS。
Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.
9
Changing platforms without stopping the train: experiences of data management and data management systems when adapting platform protocols by adding and closing comparisons.在不中断火车运行的情况下更换平台：通过添加和关闭比较来适应平台协议时的数据管理和数据管理系统的经验。
Trials. 2019 May 29;20(1):294. doi: 10.1186/s13063-019-3322-7.
10
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.RFC1 内含子重复的双等位基因扩展是迟发性共济失调的常见原因。
Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.

Humans: the ultimate animal models.

作者信息

Reilly Mary M, Rossor Alexander M

机构信息

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

出版信息

J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1132-1136. doi: 10.1136/jnnp-2020-323016. Epub 2020 Aug 7.

DOI:10.1136/jnnp-2020-323016
PMID:32769113
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7415072/
Abstract
摘要