由极低密度脂蛋白受体（VLDLR）突变的异常组合引起的小脑共济失调、智力发育迟缓与平衡失调综合征1（CAMRQ1） - Suppr

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超能文献

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.

作者信息

Schlotawa Lars, Hotz Alrun, Zeschnigk Christine, Hartmann Britta, Gärtner Jutta, Morris-Rosendahl Deborah

出版信息

J Neurol. 2013 Jun;260(6):1678-80. doi: 10.1007/s00415-013-6941-z. Epub 2013 May 14.

DOI:10.1007/s00415-013-6941-z

PMID:23670308

Abstract

摘要

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Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.由极低密度脂蛋白受体（VLDLR）突变的异常组合引起的小脑共济失调、智力发育迟缓与平衡失调综合征1（CAMRQ1）

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Role for Reelin in stabilizing cortical architecture.Reelin 在稳定皮质结构中的作用。

Trends Neurosci. 2010 Sep;33(9):407-14. doi: 10.1016/j.tins.2010.06.001. Epub 2010 Jul 1.

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).国家的突变：阿联酋（UAE）单基因疾病的突变综述。

Hum Mutat. 2010 May;31(5):505-20. doi: 10.1002/humu.21232.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.在两名患有巨脑回和桥脑小脑萎缩的土耳其兄弟中发现了新型 VLDLR 微缺失。

Neurogenetics. 2010 Jul;11(3):319-25. doi: 10.1007/s10048-009-0232-y. Epub 2010 Jan 15.

J Child Neurol. 2009 Oct;24(10):1310-5. doi: 10.1177/0883073809332696. Epub 2009 Mar 30.

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.极低密度脂蛋白受体基因突变导致的小脑发育不全及四足运动障碍

Eur J Hum Genet. 2008 Sep;16(9):1070-4. doi: 10.1038/ejhg.2008.73. Epub 2008 Mar 26.

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.极低密度脂蛋白受体（VLDLR）的突变会导致人类小脑发育不全和四肢行走。

Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7.

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.在一个患有失衡综合征的伊朗家族中鉴定极低密度脂蛋白受体基因（VLDLR）中的一个无义突变。

Eur J Hum Genet. 2008 Feb;16(2):270-3. doi: 10.1038/sj.ejhg.5201967. Epub 2007 Nov 28.

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Neuron. 1999 Oct;24(2):481-9. doi: 10.1016/s0896-6273(00)80861-2.

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