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Mov Disord. 2018 Mar;33(3):497-498. doi: 10.1002/mds.27258. Epub 2017 Nov 29.
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Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.重复中断对脊髓小脑性共济失调 10 型扩展和重复不稳定性的矛盾影响。
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Neurobiol Aging. 2017 Aug;56:211.e9-211.e14. doi: 10.1016/j.neurobiolaging.2017.04.011. Epub 2017 Apr 26.
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Relationship between C9orf72 repeat size and clinical phenotype.C9orf72重复序列大小与临床表型之间的关系。
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Acta Neuropathol. 2017 Aug;134(2):271-279. doi: 10.1007/s00401-017-1713-y. Epub 2017 Apr 24.
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Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.C9orf72 扩展在亨廷顿病表型模拟队列中的临床谱。
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Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort.希腊额颞叶痴呆队列中C9ORF72重复扩增的筛查。
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Curr Neurol Neurosci Rep. 2024 Mar;24(3):47-54. doi: 10.1007/s11910-024-01331-4. Epub 2024 Jan 25.
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Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA.美国脊髓小脑共济失调研究的合作努力：CRC-SCA和READISCA。
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C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.C9orf72及其在帕金森症和运动障碍中的相关性：文献综述
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本文引用的文献

1
C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.C9orf72和ATXN2重复序列扩增在一个患有共济失调、痴呆和帕金森症的家族中共存。
Mov Disord. 2017 Jan;32(1):158-162. doi: 10.1002/mds.26841. Epub 2016 Nov 7.
2
Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.中国SCA3/MJD患者C9orf72基因GGGGCC重复序列扩增分析。
PLoS One. 2015 Jun 17;10(6):e0130336. doi: 10.1371/journal.pone.0130336. eCollection 2015.
3
Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.突变型ATXN3使PNKP失活，通过激活SCA3中的DNA损伤反应途径触发细胞凋亡。
PLoS Genet. 2015 Jan 15;11(1):e1004834. doi: 10.1371/journal.pgen.1004834. eCollection 2015 Jan.
4
Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.家族性 C9orf72 六核苷酸重复扩增与多系统萎缩和肌萎缩性侧索硬化症。
JAMA Neurol. 2014 Jun;71(6):771-4. doi: 10.1001/jamaneurol.2013.5762.
5
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.美国脊髓小脑共济失调 1、2、3 和 6 型患者的临床特征；一项前瞻性观察研究。
Orphanet J Rare Dis. 2013 Nov 13;8:177. doi: 10.1186/1750-1172-8-177.
6
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.C9ORF72 基因中的重复扩展导致高加索人群患阿尔茨海默病。
Neurobiol Aging. 2013 May;34(5):1519.e5-12. doi: 10.1016/j.neurobiolaging.2012.10.003. Epub 2012 Oct 27.
7
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.C9ORF72 上的六核苷酸重复扩展是 9p21 连锁 ALS-FTD 的原因。
Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21.

C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.

作者信息

Figueroa Karla P, Gan Shi-Rui, Perlman Susan, Wilmot George, Gomez Christopher M, Schmahmann Jeremy, Paulson Henry, Shakkottai Vikram G, Ying Sarah H, Zesiewicz Theresa, Bushara Khalaf, Geschwind Michael, Xia Guangbin, Subramony S H, Ashizawa Tetsuo, Pulst Stefan M, Kuo Sheng-Han

机构信息

Department of Neurology, University of Utah, Salt Lake City, Utah, USA.

Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.

出版信息

Mov Disord. 2018 Mar;33(3):497-498. doi: 10.1002/mds.27258. Epub 2017 Nov 29.

DOI:10.1002/mds.27258
PMID:29193335
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6200142/
Abstract
摘要