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Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

Aloysius Domingo, Rachita Yadav, Shivangi Shah, William T. Hendriks, Serkan Erdin, Dadi Gao, Kathryn O’Keefe, Benjamin Currall, James F. Gusella, Nutan Sharma, Laurie J. Ozelius, Michelle E. Ehrlich, Michael E. Talkowski, D. Cristopher Bragg

2021The American Journal of Human Genetics23 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGeneticsTranscription factorDystoniaGeneTranscriptomeInduced pluripotent stem cellAlleleNeuroscienceGene expressionEmbryonic stem cellGenetic Neurodegenerative DiseasesRNA Research and SplicingGenetics and Neurodevelopmental Disorders
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin | Litcius