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Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.脆性X前突变和脆性X相关震颤/共济失调综合征的小鼠模型。
Results Probl Cell Differ. 2012;54:255-69. doi: 10.1007/978-3-642-21649-7_14.
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The fragile X-associated tremor ataxia syndrome.脆性X相关震颤共济失调综合征
Results Probl Cell Differ. 2012;54:337-57. doi: 10.1007/978-3-642-21649-7_18.
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Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).伴有和不伴有脆性X相关震颤/共济失调综合征（FXTAS）的脆性X前突变携带者平衡缺陷的特征与早期检测
Cerebellum. 2015 Dec;14(6):650-62. doi: 10.1007/s12311-015-0659-7.
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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.小鼠中模拟的脆性X相关震颤/共济失调综合征（FXTAS）运动功能障碍
Cerebellum. 2016 Oct;15(5):611-22. doi: 10.1007/s12311-016-0797-6.
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Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers.衰老脆性 X 智力低下 1 型 (FMR1) 基因前突变携带者的静态和动态姿势控制缺陷。
J Neurodev Disord. 2019 Jan 21;11(1):2. doi: 10.1186/s11689-018-9261-x.
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Fragile X-associated tremor/ataxia syndrome and movements disorders.脆性X相关震颤/共济失调综合征与运动障碍
Curr Opin Neurol. 2005 Aug;18(4):393-8. doi: 10.1097/01.wco.0000168332.99305.50.
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Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.脆性X震颤共济失调综合征（FXTAS）及FMR1前突变携带者的临床、影像学和神经行为学表现的最新进展
Cerebellum. 2016 Oct;15(5):578-86. doi: 10.1007/s12311-016-0799-4.
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Mouse models of fragile X-associated tremor ataxia.脆性 X 相关震颤共济失调的小鼠模型。
J Investig Med. 2009 Dec;57(8):837-41. doi: 10.2310/JIM.0b013e3181af59d6.
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Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.脆性 X 相关震颤/共济失调综合征中线粒体功能障碍的证据。
Biochem J. 2010 Aug 1;429(3):545-52. doi: 10.1042/BJ20091960.
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Fragile X premutation carriers: A systematic review of neuroimaging findings.脆性X前突变携带者：神经影像学研究结果的系统综述。
J Neurol Sci. 2015 May 15;352(1-2):19-28. doi: 10.1016/j.jns.2015.03.031. Epub 2015 Mar 27.
引用本文的文献
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, and Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome.以及在脆性X震颤共济失调综合征中识别分子参与者的方法。
Front Mol Biosci. 2020 Mar 11;7:31. doi: 10.3389/fmolb.2020.00031. eCollection 2020.
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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.
3
Regulation of IL-6 Secretion by Astrocytes via TLR4 in the Fragile X Mouse Model.在脆性X小鼠模型中，星形胶质细胞通过Toll样受体4（TLR4）对白细胞介素-6分泌的调节
Front Mol Neurosci. 2018 Aug 3;11:272. doi: 10.3389/fnmol.2018.00272. eCollection 2018.
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Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding.脆性X智力低下1（FMR1）基因的前突变影响母体锌含量、母乳以及围产期大脑生物能量学和支架构建。
Front Neurosci. 2016 Apr 19;10:159. doi: 10.3389/fnins.2016.00159. eCollection 2016.
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Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo.扩展的CGG RNA的诱导表达在体内导致线粒体功能障碍。
Cell Cycle. 2014;13(16):2600-8. doi: 10.4161/15384101.2014.943112.
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Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.脆性 X 前突变 knockin 小鼠模型中的大脑蛋白合成。
ASN Neuro. 2014 Sep 23;6(5). doi: 10.1177/1759091414551957. Print 2014.
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Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome.脆性 X 前突变和脆性 X 相关震颤/共济失调综合征的小鼠模型。
J Neurodev Disord. 2014;6(1):25. doi: 10.1186/1866-1955-6-25. Epub 2014 Jul 30.
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RNA-protein interactions in unstable microsatellite diseases.不稳定微卫星疾病中的RNA-蛋白质相互作用
Brain Res. 2014 Oct 10;1584:3-14. doi: 10.1016/j.brainres.2014.03.039. Epub 2014 Apr 4.
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Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field.脆性X相关疾病的CGG基因敲入和Fmr1基因敲除小鼠模型中的神经认知内表型：该领域现状分析
F1000Res. 2013 Dec 27;2:287. doi: 10.12688/f1000research.2-287.v1. eCollection 2013.
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Reduced activity-dependent protein levels in a mouse model of the fragile X premutation.脆性 X 前突变小鼠模型中活性依赖性蛋白水平降低。
Neurobiol Learn Mem. 2014 Mar;109:160-8. doi: 10.1016/j.nlm.2014.01.011. Epub 2014 Jan 23.
本文引用的文献
1
A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis.脆性 X 前突变的小鼠模型：对行为、树突形态和大脑蛋白质合成区域率的影响。
Neurobiol Dis. 2011 Apr;42(1):85-98. doi: 10.1016/j.nbd.2011.01.008. Epub 2011 Jan 8.
2
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.Fmr1 基因的前突变 CGG 重复扩展会损害小鼠新皮层的发育。
Hum Mol Genet. 2011 Jan 1;20(1):64-79. doi: 10.1093/hmg/ddq432. Epub 2010 Oct 8.
3
Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers.脆性 X 前突变携带者心境和焦虑障碍的终身患病率。
J Clin Psychiatry. 2011 Feb;72(2):175-82. doi: 10.4088/JCP.09m05407blu. Epub 2010 Aug 24.
4
Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.脆性X前突变杂合的雌性CGG KI小鼠的时间排序缺陷。
Behav Brain Res. 2010 Dec 1;213(2):263-8. doi: 10.1016/j.bbr.2010.05.010. Epub 2010 May 15.
5
Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins.脆性 X 前突变携带者接触神经毒素后出现神经症状早发。
Neurotoxicology. 2010 Aug;31(4):399-402. doi: 10.1016/j.neuro.2010.04.002. Epub 2010 May 11.
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Advances in understanding the molecular basis of FXTAS.理解脆性 X 智力低下震颤/共济失调综合征分子基础的进展。
Hum Mol Genet. 2010 Apr 15;19(R1):R83-9. doi: 10.1093/hmg/ddq166. Epub 2010 Apr 29.
7
Lesions to the ventral, but not the dorsal, medial prefrontal cortex enhance latent inhibition.腹侧而非背侧内侧前额叶皮质损伤增强潜伏抑制。
Eur J Neurosci. 2010 Apr;31(8):1474-82. doi: 10.1111/j.1460-9568.2010.07178.x. Epub 2010 Apr 9.
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Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model.溴酸钾，一种强有力的 DNA 氧化试剂，可加重脆性 X 前突变小鼠模型中的生殖系重复扩展。
Hum Mutat. 2010 May;31(5):611-6. doi: 10.1002/humu.21237.
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Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.Sam68 隔离和部分功能丧失与 FXTAS 患者的剪接改变有关。
EMBO J. 2010 Apr 7;29(7):1248-61. doi: 10.1038/emboj.2010.21. Epub 2010 Feb 25.
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Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation.脆性 X 前突变小鼠模型中神经元和神经胶质细胞内的泛素阳性核内包涵体。
Brain Res. 2010 Mar 8;1318:155-66. doi: 10.1016/j.brainres.2009.12.077. Epub 2010 Jan 4.
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