在X链接的迪斯顿症-帕金森症中,马赛克分离的重复中断的稳定性

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Updated: Jun 28, 2025

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
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Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

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Joshua Laß1, Theresa Lüth1, Kathleen Schlüter1

  • 1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Movement disorders : official journal of the Movement Disorder Society
|April 15, 2024
PubMed
概括

在X-链接的 dystonia-parkinsonism (XDP) 中,影响动机长度和序列 (mDRILS) 的马赛克分离重复中断显示出代际稳定性. 更高的AGGG频率可能会稳定TAF1 SVA重复,这表明mDRILS是潜在的疾病修饰剂.

关键词:
在XDPDP中使用XDP.长阅读序列编排 长阅读序列编排重复的中断是重复的中断

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