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Updated: Jan 16, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

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严重的GBA1变异驱动GBA1-PD临床表型:对咨询和临床试验的影响

Elisa Menozzi1,2, Sara Lucas Del Pozo1,2, Jane Macnaughtan2,3

  • 1Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London (UCL), London, UK.

NPJ Parkinson's disease
|October 1, 2025
PubMed
概括

GBA1基因中的遗传变异与帕金森病 (PD) 有关. 严重的GBA1-PD患者与异常性PD患者相比,表现出明显的,更严重的临床特征,包括更严重的抑郁症和认知问题.

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