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Updated: Jul 15, 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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Published on: September 12, 2020

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与COA7相关的疾病中的dystonia和帕金森症:扩大表型谱

Yujiro Higuchi1, Masahiro Ando1, Fumikazu Kojima1

  • 1Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima City, Kagoshima, 890-8520, Japan.

Journal of neurology
|September 26, 2023
PubMed
概括

对COA7基因的基因分析发现了与3型轴突神经病变 (SCAN3) 和婴儿发病的泛型 dystonia 相关的新变异. 对于无法解释的神经系统疾病,建议对COA7基因进行查.

关键词:
在 COA7A7 中.迪斯托尼亚 (Dystonia) 是一种疾病.线粒体疾病 线粒体疾病帕金森症 帕金森症脊髓大脑动症与轴突神经病变.

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