帕金森病患者中GIPC1基因GGC重复序列扩增的评估 - Suppr | 超能文献

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Assessment of GGC Repeat Expansion in GIPC1 in Patients with Parkinson's Disease.帕金森病患者中GIPC1基因GGC重复序列扩增的评估

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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.GIPC1 中的 GGC 重复扩增与眼咽远端肌病相关。

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Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.眼咽远端肌病伴 GIPC1 中 CGG 重复扩展：来自中国西南部的首次报告。

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5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.GIPC1 中的 5'UTR CGG 重复扩展与眼咽远端肌病有关。

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Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.欧洲人群中帕金森病NOTCH2NLC基因GGC重复扩增的分析

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The role of NOTCH2NLC in Parkinson's disease: A clinical, neuroimaging, and pathological study.NOTCH2NLC 在帕金森病中的作用：一项临床、神经影像学和病理学研究。

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[Genetic and clinical analysis in a Parkinson's disease family caused by expansion of SCA2].[由SCA2扩增引起的帕金森病家系的遗传与临床分析]

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Association of NOTCH2NLC Repeat Expansions With Parkinson Disease.NOTCH2NLC 重复扩展与帕金森病的关联。

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引用本文的文献

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A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in .一例伴有126次CGG重复扩增的眼咽远端肌病病例报告

Front Genet. 2025 Feb 27;16:1472907. doi: 10.3389/fgene.2025.1472907. eCollection 2025.

2

GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.GGC 扩展突变导致 NOTCH2NLC 与帕金森病和多巴胺能神经元变性有关。

Eur J Neurol. 2024 Feb;31(2):e16145. doi: 10.1111/ene.16145. Epub 2023 Nov 17.

3

Evaluation of the role of CGG repeat allele in Parkinson's disease from the Chinese population.