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.
Abstract
摘要
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本文引用的文献
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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.
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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.
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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.
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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.
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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.
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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.
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