Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene

Tobias Haack; Douglas Friday; Andreas Bender; Arndt Rolfs; Thomas Klopstock

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Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene

机译：2型共济失调动眼性运动失用症，病程长达27年，并在senataxin基因中出现新的终止突变

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《Journal of Neurology》 |2009年第9期|p.1555-1557|共3页
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Tobias Haack; Douglas Friday; Andreas Bender; Arndt Rolfs; Thomas Klopstock;
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1. Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene. [J] . Haack T, Friday D, Bender A Journal of neurology . 2009,第9期

机译：2型共济失调动眼性运动失用症，病程长达27年，并且在senataxin基因中出现新的终止突变。
2. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2 [J] . FogelB.L., ChoE., WahnichA., Human Molecular Genetics . 2014,第18期

机译：senataxin的突变改变了动眼性运动失用2型共济失调患者的疾病特异性转录网络
3. Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2 [J] . Brent L. Fogel, Ji Yong Lee, Susan Perlman The Cerebellum . 2009,第4期

机译：Senataxin基因在动眼性失用症2型共济失调患者中的异常剪接。
4. Short-patch single-strand break repair in ataxia oculomotor apraxia-1 [C] . John J. Reynolds, Sherif F. El-Khamisy, Keith W. Caldecott Biochemical Society Symposium . 2009

机译：Ataxia Ooxia-1的短斑单链断裂修复
5. Infant Onset Spinocerebellar Ataxia Type 13 Mutation Leads to Developmental and Rapid Degenerative Phenotypes Related to Hyperexcitability in Purkinje Cells [D] . Ulrich, Brittany Nicole. 2017

机译：婴儿起病的脊髓小脑共济失调13型突变导致发展和快速退化的表型与浦肯野细胞过度兴奋有关。
6. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2 [O] . Brent L. Fogel, Ellen Cho, Amanda Wahnich, -1

机译：senataxin的突变改变了动眼性运动失用2型共济失调患者的疾病特异性转录网络
7. Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2 [O] . 2009

机译：Senataxin基因在动眼性失用症2型共济失调患者中的异常剪接。

Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene

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