Clinical differences between a patient with intermediate CTA/CTG repeats and patients with typically expanded CTA/CTG repeats in spinocerebellar ataxia type 8

M. Samukawa; M. Hirano; K. Saigoh; Kusunoki

首页> 外文期刊>Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology >Clinical differences between a patient with intermediate CTA/CTG repeats and patients with typically expanded CTA/CTG repeats in spinocerebellar ataxia type 8

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Clinical differences between a patient with intermediate CTA/CTG repeats and patients with typically expanded CTA/CTG repeats in spinocerebellar ataxia type 8

机译：中间体CTA / CTG重复患者与含有常见的CTA / CTG患者在纺丝大脑共济失调中的患者患者患者的临床差异8型

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来源
《Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology》 |2017年第2017期|共1页
作者
M. Samukawa; M. Hirano; K. Saigoh; Kusunoki;
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作者单位

Kindai University Hospital Neurology;

Kindai University Hospital Neurology;

Kindai University Hospital Neurology;

Kindai University Hospital Neurology;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
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1. Clinical differences between a patient with intermediate CTA/CTG repeats and patients with typically expanded CTA/CTG repeats in spinocerebellar ataxia type 8 [J] . M. Samukawa, M. Hirano, K. Saigoh, Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2017,第期

机译：中间体CTA / CTG重复患者与含有常见的CTA / CTG患者在纺丝大脑共济失调中的患者患者患者的临床差异8型
2. Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients [J] . Fernandez-CostaJ.M., Garcia-LopezA., Zu?igaS., Human Molecular Genetics . 2013,第4期

机译：扩大的CTG重复序列触发果蝇中1型强直性肌营养不良患者保守的miRNA改变
3. The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract. [J] . Verpoest W, Seneca S, De Rademaeker M, Journal of assisted reproduction and genetics . 2010,第6期

机译：接受PGD的1型强直性肌营养不良（DM1）女性患者的生殖结局不受扩大的CTG重复道大小的影响。
4. Small molecule induced CAG/CTG repeat contraction during PCR: Repeat length dependency [C] . Nursakinah Binti Mohd Zaifuddin, Chikara Dohno, Kazuhiko Nakatani 日本化学会春季年会講演予稿集 . 2018

机译：在PCR期间，小分子诱导CAG / CTG重复收缩：重复长度依赖性
5. Recombination mediated instabilities of (CTG:CAG) and (CAG:CTG) triplet repeat sequences from human hereditary disease. [D] . Jakupciak, John Paul. 2000

机译：重组介导的来自人类遗传疾病的（CTG：CAG）和（CAG：CTG）三联体重复序列的不稳定性。
6. SCA8 Repeat Expansion: Large CTA/CTG Repeat Alleles Are More Common in Ataxic Patients Including Those with SCA6 [O] . Yuishin Izumi, Hirofumi Maruyama, Masaya Oda, 2003

机译：SCA8重复序列扩展：大型CTA / CTG重复等位基因在包括SCA6在内的共济失调患者中更为常见
7. CTA/CTG repeat sizes in the atxn8os gene afefct age at onset and phenotype in spinocerebellar ATAXIA type8 [O] . M. Samukawa, M. Hirano, K. Saigoh, 2019

机译：CTA / CTG在ATXN8OS基因中重复尺寸在ATXN8OS基因AFFCT AGENT AGET和表型在纺丝大脑脑外发作Asaxia Type8

Clinical differences between a patient with intermediate CTA/CTG repeats and patients with typically expanded CTA/CTG repeats in spinocerebellar ataxia type 8

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