Allele distribution of a highly polymorphic repeat on chromosome 12 in patients with symptoms of chorea and ataxia.
作者信息
Zühlke C, Knobloch O, Wagner S, Hilgers R
出版信息
J Med Genet. 1995 Jul;32(7):577-8. doi: 10.1136/jmg.32.7.577-a.
Abstract
摘要
相似文献
1
Allele distribution of a highly polymorphic repeat on chromosome 12 in patients with symptoms of chorea and ataxia.患有舞蹈症和共济失调症状患者中，12号染色体上一个高度多态性重复序列的等位基因分布情况。
J Med Genet. 1995 Jul;32(7):577-8. doi: 10.1136/jmg.32.7.577-a.
2
Ataxia without telangiectasia masquerading as benign hereditary chorea.
Mov Disord. 1996 Mar;11(2):217-20. doi: 10.1002/mds.870110217.
3
Extrapyramidal signs are a common feature of spinocerebellar ataxia type 17.锥体外系体征是17型脊髓小脑共济失调的常见特征。
Neurology. 2009 Nov 17;73(20):1708-9. doi: 10.1212/WNL.0b013e3181c1df0c.
4
Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).两种CAG动态突变（亨廷顿舞蹈症和1型脊髓小脑共济失调）的印迹PCR产物的化学发光检测（CB-PCR）
J Med Genet. 1994 Aug;31(8):654-5. doi: 10.1136/jmg.31.8.654.
5
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.2型脊髓小脑共济失调中正常双等位基因三核苷酸重复序列的中度扩增。
Nat Genet. 1996 Nov;14(3):269-76. doi: 10.1038/ng1196-269.
6
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.
Hum Genet. 1995 Mar;95(3):313-8. doi: 10.1007/BF00225200.
7
Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders.舞蹈病、遗传性共济失调及其他共济失调、抽搐、肌阵挛和其他运动障碍。
Curr Opin Neurol Neurosurg. 1993 Jun;6(3):358-68.
8
Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia.亨廷顿舞蹈病样和共济失调患者中的脊髓小脑共济失调17型重复序列
Ann Neurol. 2004 Jul;56(1):163; author reply 163-4. doi: 10.1002/ana.20146.
9
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.
Nat Genet. 1995 Jul;10(3):344-50. doi: 10.1038/ng0795-344.
10
[Triplet repeat disorder, dentatorubral and pallidoluysian atrophy DRPLA)].
Nihon Rinsho. 1995 Apr;53(4):1024-32.
本文引用的文献
1
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.1型脊髓小脑共济失调中不稳定的三核苷酸CAG重复序列的扩增。
Nat Genet. 1993 Jul;4(3):221-6. doi: 10.1038/ng0793-221.
2
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).遗传性齿状核红核苍白球路易体萎缩（DRPLA）中CAG重复序列的不稳定扩增。
Nat Genet. 1994 Jan;6(1):9-13. doi: 10.1038/ng0194-9.
3
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.齿状核红核苍白球路易体萎缩症：12号染色体短臂上不稳定的CAG三核苷酸重复序列扩增。
Nat Genet. 1994 Jan;6(1):14-8. doi: 10.1038/ng0194-14.
4
Dentatorubral-pallidoluysian atrophy and Haw River syndrome.齿状核红核苍白球路易体萎缩症和霍里弗综合征。
Lancet. 1994 Dec 17;344(8938):1711-2. doi: 10.1016/s0140-6736(94)90497-9.
Zotero 插件