Phyllis L. Faust

This paper identifies a natural antisense transcript that regulates Glut1 expression and demonstrates its therapeutic potential in Glut1 deficiency syndrome.

The paper identifies distinct Purkinje cell subtypes in the human cerebellum and shows differential vulnerability in essential tremor, with motor-related subtypes showing axonal pathology.

This study identifies that tau assemblies in a subset of essential tremor cases with tau pathology are conformationally similar to Alzheimer's disease and primary age-related tauopathy.

This study uses longitudinal single-nucleus RNA sequencing to analyze transcriptional dynamics in SCA1 cerebellum, identifying early cellular changes and applying deep learning to predict disease state.

This study compares gene expression in human and mouse Purkinje cells using transcriptomics, identifying shared and distinct genetic pathways and a novel human marker gene.