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Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset.

作者信息

Laurencin Chloé, Anheim Mathieu, Larrieu Lise, Tilikete Caroline, Koenig Michel, Thobois Stéphane

机构信息

Neurologie C, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Lyon, France,

出版信息

J Neurol. 2015 May;262(5):1366-8. doi: 10.1007/s00415-015-7717-4. Epub 2015 Apr 7.

DOI:10.1007/s00415-015-7717-4
PMID:25845762
Abstract
摘要

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Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.常染色体隐性小脑共济失调 3 型伴 ANO10 突变:临床表型与基因型相关性研究。
JAMA Neurol. 2014 Oct;71(10):1305-10. doi: 10.1001/jamaneurol.2014.193.
2
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2.眼跳与眼头协调异常在眼动运动不能症 2 型中的作用。
Cerebellum. 2013 Aug;12(4):557-67. doi: 10.1007/s12311-013-0463-1.
3
The autosomal recessive cerebellar ataxias.常染色体隐性遗传性小脑共济失调
N Engl J Med. 2012 Feb 16;366(7):636-46. doi: 10.1056/NEJMra1006610.
4
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.眼动性动作失调伴低白蛋白血症和早发性共济失调的基因型-表型相关性。
Brain. 2011 May;134(Pt 5):1387-99. doi: 10.1093/brain/awr069. Epub 2011 Apr 12.
5
"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).2型共济失调伴眼球运动失用症(AOA2)的“假显性遗传”
J Neurol. 2008 Apr;255(4):495-501. doi: 10.1007/s00415-008-0707-z. Epub 2008 Mar 20.
6
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.
Neurology. 2004 Dec 14;63(11):2173-5. doi: 10.1212/01.wnl.0000145604.57000.36.
7
Aprataxin gene mutations in Tunisian families.突尼斯家族中的 aprataxin 基因突变。
Neurology. 2004 Sep 14;63(5):928-9. doi: 10.1212/01.wnl.0000137044.06573.46.
8
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.1型动眼性失用伴小脑共济失调:临床与遗传学研究
Brain. 2003 Dec;126(Pt 12):2761-72. doi: 10.1093/brain/awg283. Epub 2003 Sep 23.
9
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.在共济失调性眼肌失用症1中发生突变的基因编码新的HIT/锌指蛋白共济失调性眼肌失用蛋白。
Nat Genet. 2001 Oct;29(2):189-93. doi: 10.1038/ng1001-189.
10
Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.葡萄牙型和日本型共济失调性眼球运动失用症的纯合子定位至9p13以及遗传异质性证据
Am J Hum Genet. 2001 Feb;68(2):501-8. doi: 10.1086/318191. Epub 2001 Jan 22.