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Updated: May 16, 2025

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进激素突变表现为帕金森病:来自PADUA-CESNE队列的病例系列

Giulia Bonato1,2,3,4, Marta Campagnolo1,2,4, Aron Emmi2,5

  • 1Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padova, Padova, Italy.

Movement disorders clinical practice
|April 4, 2025
PubMed
概括

进激素 (GRN) 基因突变可以导致年轻患者的帕金森病 (PD),呈现典型的PD特征和化α-synuclein病理. 基因检测对于诊断和指导治疗至关重要.

关键词:
遗传学 遗传学 遗传学 是一个帕金森主义是帕金森主义.益格拉努林是一种前列腺素.皮肤活检皮肤活检一个同核蛋白.

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