AIMP1/p43 mutation and PMLD.
作者信息
Biancheri Roberta, Rossi Andrea, Zara Federico, Filocamo Mirella
出版信息
Am J Hum Genet. 2011 Mar 11;88(3):391; author reply 393-5. doi: 10.1016/j.ajhg.2011.02.003.
Abstract
摘要
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本文引用的文献
1
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.AIMP1/p43 纯合突变导致的类似于 Pelizaeus-Merzbacher 病。
Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18.
2
Magnetic resonance imaging pattern recognition in hypomyelinating disorders.脱髓鞘疾病中的磁共振成像模式识别
Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257.
3
Invited article: an MRI-based approach to the diagnosis of white matter disorders.特邀文章：基于磁共振成像的白质疾病诊断方法
Neurology. 2009 Feb 24;72(8):750-9. doi: 10.1212/01.wnl.0000343049.00540.c8.
4
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.隐性低髓鞘性白质脑病患儿的GJA12基因突变
Neurology. 2006 Jul 25;67(2):273-9. doi: 10.1212/01.wnl.0000223832.66286.e4. Epub 2006 May 17.
5
Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination.佩利措伊斯-梅茨巴赫病的定量质子磁共振波谱分析：发育异常性和髓鞘形成不足的证据
Neurology. 2005 Sep 13;65(5):701-6. doi: 10.1212/01.wnl.0000174642.32187.20.
6
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.编码缝隙连接蛋白α12（连接蛋白46.6）的基因突变会导致佩利措伊斯-梅茨巴赫样病。
Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10.
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