• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

Fragile X: a family of disorders.

作者信息

Chonchaiya Weerasak, Schneider Andrea, Hagerman Randi J

机构信息

Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Medical Center, 2825 50th street, Sacramento, CA 95817, USA.

出版信息

Adv Pediatr. 2009;56:165-86. doi: 10.1016/j.yapd.2009.08.008.

DOI:10.1016/j.yapd.2009.08.008
PMID:19968948
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2921504/
Abstract
摘要

相似文献

1
Fragile X: a family of disorders.脆性X综合征:一类疾病
Adv Pediatr. 2009;56:165-86. doi: 10.1016/j.yapd.2009.08.008.
2
The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.脆性X综合征的行为表型:脆性X综合征、特发性自闭症及其他发育障碍的幼儿中的自闭症症状
J Dev Behav Pediatr. 2001 Dec;22(6):409-17. doi: 10.1097/00004703-200112000-00008.
3
Aberrant behaviors of young boys with fragile X syndrome.患有脆性X综合征的男孩的异常行为。
Am J Ment Retard. 1994 Mar;98(5):567-79.
4
Molecular screening for fragile X syndrome among Indonesian children with developmental disability.印度尼西亚发育障碍儿童脆性X综合征的分子筛查
Am J Med Genet. 1999 Apr 2;83(4):350-1.
5
The mGluR theory of fragile X mental retardation.脆性X智力障碍的代谢型谷氨酸受体理论。
Trends Neurosci. 2004 Jul;27(7):370-7. doi: 10.1016/j.tins.2004.04.009.
6
Early behavior signs of psychiatric phenotypes in fragile X syndrome.脆性X综合征精神疾病表型的早期行为迹象。
Am J Ment Retard. 2000 Jul;105(4):286-99. doi: 10.1352/0895-8017(2000)105<0286:EBSOPP>2.0.CO;2.
7
Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP).脆性X综合征的神经解剖学与异常行为及脆性X智力低下蛋白(FMRP)相关。
Ann Neurol. 2008 Jan;63(1):40-51. doi: 10.1002/ana.21243.
8
Fragile X syndrome.脆性X综合征
Eur J Hum Genet. 2008 Jun;16(6):666-72. doi: 10.1038/ejhg.2008.61. Epub 2008 Apr 9.
9
Brain and behavior in fragile x syndrome and idiopathic autism.脆性X综合征和特发性自闭症中的大脑与行为
Arch Gen Psychiatry. 2011 Mar;68(3):230-1. doi: 10.1001/archgenpsychiatry.2011.11.
10
Therapeutic implications of the mGluR theory of fragile X mental retardation.脆性X智力障碍的代谢型谷氨酸受体理论的治疗意义
Genes Brain Behav. 2005 Aug;4(6):393-8. doi: 10.1111/j.1601-183X.2005.00135.x.

引用本文的文献

1
Knowledge and perceptions about fragile X syndrome and fragile X-premutation-associated conditions among medical doctors in Nigeria.尼日利亚医生对脆性 X 综合征和脆性 X 前突变相关疾病的知识和认知。
Clin Genet. 2025 Jan;107(1):56-66. doi: 10.1111/cge.14619. Epub 2024 Sep 18.
2
Specific EEG resting state biomarkers in FXS and ASD.脆性 X 综合征和自闭症的特定 EEG 静息状态生物标志物。
J Neurodev Disord. 2024 Sep 9;16(1):53. doi: 10.1186/s11689-024-09570-9.
3
A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.脆性 X 综合征与脆性 X 前突变相关疾病在非洲的综合综述
Genes (Basel). 2024 May 25;15(6):683. doi: 10.3390/genes15060683.
4
Genetic background mutations drive neural circuit hyperconnectivity in a fragile X syndrome model.遗传背景突变导致脆性 X 综合征模型中的神经回路过度连接。
BMC Biol. 2020 Jul 30;18(1):94. doi: 10.1186/s12915-020-00817-0.
5
Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS.在脆性X震颤共济失调综合征(FXTAS)模型中,降低Fmr1 mRNA水平可挽救皮质神经元的病理特征。
Mol Ther Nucleic Acids. 2019 Dec 6;18:546-553. doi: 10.1016/j.omtn.2019.09.018. Epub 2019 Sep 26.
6
Modulators of Kv3 Potassium Channels Rescue the Auditory Function of Fragile X Mice.Kv3 钾通道调节剂可挽救脆性 X 小鼠的听觉功能。
J Neurosci. 2019 Jun 12;39(24):4797-4813. doi: 10.1523/JNEUROSCI.0839-18.2019. Epub 2019 Apr 1.
7
New Therapeutic Options for Fragile X Syndrome.脆性X综合征的新治疗选择
Curr Treat Options Neurol. 2019 Feb 27;21(3):12. doi: 10.1007/s11940-019-0551-8.
8
Stop Making Noise! Auditory Sensitivity in Adults with an Autism Spectrum Disorder Diagnosis: Physiological Habituation and Subjective Detection Thresholds.停止制造噪音!自闭症谱系障碍成人的听觉敏感性:生理习惯化和主观检测阈值。
J Autism Dev Disord. 2019 May;49(5):2116-2128. doi: 10.1007/s10803-019-03890-9.
9
Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in fragile X syndrome.与脆性X综合征中皮层过度兴奋和听觉过敏相关的神经同步缺陷。
Mol Autism. 2017 Jun 7;8:22. doi: 10.1186/s13229-017-0140-1. eCollection 2017.
10
CGG-repeat dynamics and gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.脆性X综合征干细胞及干细胞衍生神经元中的CGG重复序列动态变化与基因沉默
Mol Autism. 2016 Oct 6;7:42. doi: 10.1186/s13229-016-0105-9. eCollection 2016.

本文引用的文献

1
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration.表达 Fmr1 基因前突变的鼠海马神经元表现出早期发育缺陷和晚期退化。
Hum Mol Genet. 2010 Jan 1;19(1):196-208. doi: 10.1093/hmg/ddp479.
2
A review of fragile X premutation disorders: expanding the psychiatric perspective.脆性X前突变疾病综述:拓展精神病学视角
J Clin Psychiatry. 2009 Jun;70(6):852-62. doi: 10.4088/JCP.08m04476. Epub 2009 May 5.
3
Brain function and gaze fixation during facial-emotion processing in fragile X and autism.脆性X综合征和自闭症患者面部情绪处理过程中的脑功能与注视固定
Autism Res. 2008 Aug;1(4):231-9. doi: 10.1002/aur.32.
4
Autism profiles of males with fragile X syndrome.脆性X综合征男性的自闭症特征
Am J Ment Retard. 2008 Nov;113(6):427-38. doi: 10.1352/2008.113:427-438.
5
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.一项针对脆性X综合征成人患者的非诺班开放标签单剂量试验。
J Med Genet. 2009 Apr;46(4):266-71. doi: 10.1136/jmg.2008.063701. Epub 2009 Jan 6.
6
Advances in the treatment of fragile X syndrome.脆性X综合征治疗进展
Pediatrics. 2009 Jan;123(1):378-90. doi: 10.1542/peds.2008-0317.
7
Testing for fragile X gene mutations throughout the life span.终生检测脆性X基因突变。
JAMA. 2008 Nov 26;300(20):2419-21. doi: 10.1001/jama.2008.684.
8
Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function.脆性X综合征:局部mRNA调控的丧失改变突触发育和功能。
Neuron. 2008 Oct 23;60(2):201-14. doi: 10.1016/j.neuron.2008.10.004.
9
Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model.米诺环素可促进脆性X小鼠模型的树突棘成熟并改善行为表现。
J Med Genet. 2009 Feb;46(2):94-102. doi: 10.1136/jmg.2008.061796. Epub 2008 Oct 3.
10
Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment.脆性X综合征中的前脉冲抑制:可行性、可靠性及对治疗的意义。
Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):545-53. doi: 10.1002/ajmg.b.30858.