Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.
Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.
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DOI：
10.1016/j.neurobiolaging.2012.05.007
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发表时间：
2012-10
影响因子：
4.2
通讯作者：
Singleton AB
中科院分区：
文献类型：
--
作者：
Majounie E;Abramzon Y;Renton AE;Keller MF;Traynor BJ;Singleton AB
神经退行性疾病之间存在病理性重叠的概念正在形成势头。我们试图确定C9orf72重复扩张在大量帕金森氏病患者中的作用，最近发现C9orf72重复扩张是额颞叶痴呆和肌萎缩侧索硬化症的原因之一。在我们的队列中没有发现大的扩张。
The concept of a pathological overlap between neurodegenerative disorders is gaining momentum. We sought to determine the contribution of C9orf72 repeat expansions, recently discovered as a cause of frontotemporal dementia and amyotrophic lateral sclerosis, in a large number of Parkinson’s disease patients. No large expansions were identified in our cohort.