Article

Dystonia-specific mutations in <i>THAP1</i> alter transcription of genes associated with neurodevelopment and myelin

2021-06-22

Abstract excerpt

<h4>ABSTRACT</h4> Dystonia is a neurologic disorder associated with an increasingly large number of variants in many genes, resulting in characteristic disturbances in volitional movement. Dissecting the relationships between these mutations and their functional outcomes is a critical step in understanding the key pathways that drive dystonia pathogenesis. Here we established a pipeline for characterizing an alle...

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Literature Corpus work: 700df41a-2a6e-5c16-a11d-b36f10b83631
DOI: 10.1101/2021.06.22.449452

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