亨廷顿舞蹈病中，给定（CAG）n重复序列长度时，预测发病年龄的置信区间。 - Suppr

Suppr

超能文献

Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease.

作者信息

Lucotte G, Turpin J C, Riess O, Epplen J T, Siedlaczk I, Loirat F, Hazout S

机构信息

Regional Center of Neurogenetics, CHU-CHR of Reims, Maison Blanche Hospital, France.

出版信息

Hum Genet. 1995 Feb;95(2):231-2. doi: 10.1007/BF00209410.

DOI:10.1007/BF00209410

PMID:7860073

Abstract

摘要

相似文献

Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease.亨廷顿舞蹈病中，给定（CAG）n重复序列长度时，预测发病年龄的置信区间。

Hum Genet. 1995 Feb;95(2):231-2. doi: 10.1007/BF00209410.

Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin.在352名德国裔患者中，导致亨廷顿舞蹈病的（CAG）n重复序列的扩增

Hum Mol Genet. 1993 Sep;2(9):1467-9. doi: 10.1093/hmg/2.9.1467.

Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease.在亨廷顿病患者中，转谷氨酰胺酶活性与CAG重复序列长度相关。

Hum Genet. 1996 Dec;98(6):633-5. doi: 10.1007/s004390050273.

Correlations between triplet repeat expansion and clinical features in Huntington's disease.亨廷顿病中三联体重复序列扩增与临床特征之间的相关性。

Arch Neurol. 1995 Aug;52(8):749-53. doi: 10.1001/archneur.1995.00540320021009.

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.散发性亨廷顿舞蹈病中（CAG）n重复序列的从头扩增

Nat Genet. 1993 Oct;5(2):168-73. doi: 10.1038/ng1093-168.

Mutation size and age at onset in Huntington's disease.亨廷顿舞蹈症的突变大小与发病年龄

J Med Genet. 1993 Dec;30(12):1008-11. doi: 10.1136/jmg.30.12.1008.

A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.一项关于苏格兰人群中与亨廷顿舞蹈症相关的三核苷酸重复序列的研究。

J Med Genet. 1993 Dec;30(12):1003-7. doi: 10.1136/jmg.30.12.1003.

CAG repeat size and clinical presentation in Huntington's disease.亨廷顿舞蹈症中CAG重复序列长度与临床表现

Neurology. 1994 Jun;44(6):1137-43. doi: 10.1212/wnl.44.6.1137.

Trinucleotide repeat length and rate of progression of Huntington's disease.亨廷顿舞蹈症的三核苷酸重复序列长度与疾病进展速率

Ann Neurol. 1994 Oct;36(4):630-5. doi: 10.1002/ana.410360412.

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families.来自71个丹麦家庭的亨廷顿病患者中亨廷顿基因的三核苷酸重复序列延长

Hum Mol Genet. 1993 Sep;2(9):1475-6. doi: 10.1093/hmg/2.9.1475.

引用本文的文献

Explainable artificial intelligence based on feature optimization for age at onset prediction of spinocerebellar ataxia type 3.基于特征优化的可解释人工智能用于3型脊髓小脑共济失调发病年龄预测

Front Neuroinform. 2022 Aug 30;16:978630. doi: 10.3389/fninf.2022.978630. eCollection 2022.

The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington's Disease.CAG重复序列长度与青少年型亨廷顿舞蹈病发病年龄之间的关联

Brain Sci. 2020 Aug 20;10(9):575. doi: 10.3390/brainsci10090575.

Association Between Toll-Like Receptor 4 (TLR4) and Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) Genetic Variants and Clinical Progression of Huntington's Disease.Toll 样受体 4（TLR4）和髓样细胞表达的触发受体 2（TREM2）基因变异与亨廷顿病临床进展的关系。

Mov Disord. 2020 Mar;35(3):401-408. doi: 10.1002/mds.27911. Epub 2019 Nov 14.

Statistical modeling of Huntington disease onset.亨廷顿病发病的统计建模

Handb Clin Neurol. 2017;144:47-61. doi: 10.1016/B978-0-12-801893-4.00004-3.

A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease.亨廷顿病样2型的果蝇模型表现出核毒性以及与亨廷顿病不同的致病机制。

Hum Mol Genet. 2016 Aug 1;25(15):3164-3177. doi: 10.1093/hmg/ddw166. Epub 2016 Jun 10.

Motor onset and diagnosis in Huntington disease using the diagnostic confidence level.使用诊断置信水平对亨廷顿病进行运动发作和诊断

J Neurol. 2015 Dec;262(12):2691-8. doi: 10.1007/s00415-015-7900-7. Epub 2015 Sep 26.

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease.β-防御素基因拷贝数不影响亨廷顿舞蹈症的发病年龄。

J Huntingtons Dis. 2013 Mar 27;2(1):107-124. doi: 10.3233/JHD-130047.

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.自噬相关基因 ATG7 中的 V471A 多态性特异性改变意大利亨廷顿病患者的发病年龄。

PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013.

Indexing disease progression at study entry with individuals at-risk for Huntington disease.在研究开始时对亨廷顿病高危个体进行疾病进展的指标检测。

Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):751-63. doi: 10.1002/ajmg.b.31232. Epub 2011 Aug 19.

Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease.PGC-1α 序列变异的定位影响其在亨廷顿病中的修饰作用。

Mol Neurodegener. 2011 Jan 6;6(1):1. doi: 10.1186/1750-1326-6-1.

本文引用的文献

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.一个含有三核苷酸重复序列的新基因，该序列在亨廷顿病染色体上呈扩增且不稳定状态。亨廷顿病协作研究组。

Cell. 1993 Mar 26;72(6):971-83. doi: 10.1016/0092-8674(93)90585-e.

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.三核苷酸（CAG）重复序列长度与亨廷顿舞蹈症临床特征之间的关系。

Nat Genet. 1993 Aug;4(4):398-403. doi: 10.1038/ng0893-398.

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.亨廷顿舞蹈病中三核苷酸重复序列扩增与表型变异的关系。

Nat Genet. 1993 Aug;4(4):393-7. doi: 10.1038/ng0893-393.

Trinucleotide repeat length instability and age of onset in Huntington's disease.亨廷顿病中三核苷酸重复序列长度不稳定性与发病年龄

Nat Genet. 1993 Aug;4(4):387-92. doi: 10.1038/ng0893-387.

Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease.用于导致亨廷顿舞蹈症的（CAG）n重复序列的改良聚合酶链式反应条件。

Hum Mol Genet. 1993 Jun;2(6):637. doi: 10.1093/hmg/2.6.637.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验