Kailash P. Bhatia

This paper validates a low-input RNA extraction protocol using DBS microelectrodes to obtain subcortical RNA from post-mortem brains, confirming brain origin and sub-regional cellular identity.

The paper reports genetic findings from a UK-wide study of early-onset and familial Parkinson's disease, identifying pathogenic variants in known PD genes and highlighting the need for further monogenic causes.

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.

This paper demonstrates a method to suppress essential tremor by disrupting neural oscillation coherence through phase-locked electrical stimulation of the cerebellum.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.