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The mutational constraint spectrum quantified from variation in 141,456 humans.从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
3
The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.中国青少年肌萎缩侧索硬化症患者的基因与临床特征研究
Clin Genet. 2017 Sep;92(3):267-273. doi: 10.1111/cge.13015. Epub 2017 Apr 20.
4
A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis.一种与青少年肌萎缩侧索硬化症相关的BICD2基因新突变。
Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):454-456. doi: 10.1080/21678421.2017.1304557. Epub 2017 Mar 23.
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Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS.线粒体相关膜崩溃是与SIGMAR1和SOD1相关的肌萎缩侧索硬化症中的一种常见病理机制。
EMBO Mol Med. 2016 Dec 1;8(12):1421-1437. doi: 10.15252/emmm.201606403. Print 2016 Dec.
6
Mutations in SOD1 and FUS caused juvenile-onset sporadic amyotrophic lateral sclerosis with aggressive progression.SOD1 和 FUS 突变导致进展迅速的青少年起病散发性肌萎缩侧索硬化症。
Ann Transl Med. 2015 Sep;3(15):221. doi: 10.3978/j.issn.2305-5839.2015.09.04.
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Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.内质网-线粒体通讯功能障碍是 SIGMAR1 功能丧失介导的运动神经元退行性变的基础。
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Recent progress in the genetics of motor neuron disease.运动神经元病遗传学的最新进展。
Eur J Med Genet. 2014 Feb;57(2-3):103-12. doi: 10.1016/j.ejmg.2014.01.002. Epub 2014 Feb 4.
9
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.一种 sigma-1 受体的突变会导致青少年型肌萎缩性侧索硬化症。
Ann Neurol. 2011 Dec;70(6):913-9. doi: 10.1002/ana.22534. Epub 2011 Aug 12.
10
The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons. An anatomical and behavioral study.sigma-1 受体富含于小鼠运动神经元 C 末端突触后的部位。一项解剖学和行为学研究。
Neuroscience. 2010 May 5;167(2):247-55. doi: 10.1016/j.neuroscience.2010.02.022. Epub 2010 Feb 16.

Uniparental Disomy Leading to a Rare Juvenile Form of ALS.

作者信息

Karasozen Yigit, Sheikh Kazim A, Mancias Pedro, Nguyen Thy P

机构信息

Department of Neurology, McGovern Medical School, University of Texas Houston Health Science Center, Houston, Texas, USA.

Department of Pediatrics, McGovern Medical School, University of Texas Houston Health Science Center, Houston, Texas, USA.

出版信息

J Pediatr Perinatol Child Health. 2020;4(4):107-110. doi: 10.26502/jppch.74050049. Epub 2020 Oct 10.

DOI:10.26502/jppch.74050049
PMID:33123684
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7592712/
Abstract
摘要