Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family

机译：大型纺纱术中的孢子肌肌萎缩侧硬化症箱的基因组画像1型系列

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期刊名称 Journal of Personalized Medicine
作者
Giovanna Morello; Giulia Gentile; Rossella Spataro; Antonio Gianmaria Spampinato; Maria Guarnaccia; Salvatore Salomone; Vincenzo La Bella; Francesca Luisa Conforti; Sebastiano Cavallaro;
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作者单位

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年(卷),期 2020(10),4
年度 2020
页码 262
总页数 18
原文格式 PDF
正文语种
中图分类生理学;
关键词
spinocerebellar ataxia; amyotrophic lateral sclerosis; SCA1-MN; NGS; customized aCGH; multi-omics; pathway; network;

机译：旋转梗塞共济失调;肌萎缩侧面硬化;SCA1-MN;NGS;定制ACGH;多OMICS;途径;网络;

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专利

1. A case of amyotrophic lateral sclerosis with intermediate ATXN-1 CAG repeat expansion in a large family with spinocerebellar ataxia type 1 [J] . SpataroR., LaBellaV. Journal of neurology . 2014,第7期

机译：伴有小脑共济失调1型的大家庭中度ATXN-1 CAG重复扩增的肌萎缩性侧索硬化症
2. Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2 [J] . TazenS., FigueroaK., KwanJ.Y., JAMA neurology . 2013,第10期

机译：肌萎缩性侧索硬化症和2型脊髓小脑共济失调的家庭，其CAG完全重复出现ATXN2
3. Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2 [J] . Neuro-degenerative diseases . 2018,第1期

机译：升高的全局DNA甲基化不是肌营养的侧面硬化，并且在纺丝大脑共济失纲膜中也观察到1和2
4. Consonant distortions in dysarthria due to Parkinson's disease, Amyotrophic Lateral Sclerosis and Cerebellar Ataxia [C] . Tanja Kocjan?i? Antolík, Cécile Fougeron Conference of the International Speech Communication Association . 2013

机译：因帕金森病，肌萎缩侧硬化和小脑共济失调导致的伴游伴游
5. Bioinformatics and biomolecular tools for biomarker discovery in peripheral blood lymphocytes from patients with sporadic amyotrophic lateral sclerosis. [D] . Baciu, Cristina. 2012

机译：在散发性肌萎缩性侧索硬化症患者外周血淋巴细胞中发现生物标志物的生物信息学和生物分子工具。
6. Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family with Full CAG Repeat Expansions of ATXN2 [O] . Sirinan Tazen, Karla Figueroa, Justin Y Kwan, -1

机译：肌萎缩性侧索硬化症和2型脊髓小脑共济失调的家庭具有完全CAG重复扩展的ATXN2。
7. Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family [O] . Giovanna Morello, Giulia Gentile, Rossella Spataro, 2020

机译：大型纺纱术中的孢子肌肌萎缩侧硬化症箱的基因组画像1型系列
8. Summary Report: Amyotrophic Lateral Sclerosis and Multiple Sclerosis Surveillance Annual Meeting, June 24-25, 2009: Issues Related to Developing a National Surveillance System and Registries for Amyotrophic Lateral Sclerosis and Multiple Sclerosis [R] . 2009

机译：摘要报告：肌萎缩侧索硬化症和多发性硬化症监测年会，2009年6月24日至25日：与建立肌萎缩侧索硬化症和多发性硬化症的国家监测系统和登记相关的问题

Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family

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