Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.
作者信息
Ozcelik Tayfun, Akarsu Nurten, Uz Elif, Caglayan Safak, Gulsuner Suleyman, Onat Onur Emre, Tan Meliha, Tan Uner
出版信息
Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):E32-3. doi: 10.1073/pnas.0804078105.
Abstract
摘要
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本文引用的文献
1
"Devolution" of bipedality.两足行走的“退化”
Proc Natl Acad Sci U S A. 2008 May 27;105(21):E25. doi: 10.1073/pnas.0802584105. Epub 2008 May 16.
2
Genes and quadrupedal locomotion in humans.人类的基因与四足动物运动
Proc Natl Acad Sci U S A. 2008 May 27;105(21):E26. doi: 10.1073/pnas.0802839105. Epub 2008 May 15.
3
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.
4
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.
5
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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A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism.一个患有四足步态、严重智力迟钝、面部特征粗糙和多毛症的巴西家庭。
Int J Neurosci. 2007 Jul;117(7):927-33. doi: 10.1080/00207450600910721.
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Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.极低密度脂蛋白受体基因的纯合缺失导致常染色体隐性遗传性小脑发育不全并伴有脑回简化。
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The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment.脑瘫中的平衡失调综合征。临床症状与治疗。
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