使用肌肉蛋白质学和血清生物标志物探索PURA综合征中的分子特征

Magdalena Mroczek1,2, Corinna Preusse3,4,5, Andreas Hentschel6

  • 1Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.

Journal of neurology
|January 23, 2026
PubMed
概括

主导的PURA变种会导致影响神经肌肉结合的神经发育障碍. 这项研究确定了血清中的TSP4作为PURA综合征的潜在生物标志物,为疾病机制提供了洞察力.

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