Publications by authors named "Sankarasubramoney H Subramony"
Article Synopsis
- DNA replication is crucial for cell division and maintaining genetic stability, with the RFC complex playing a key role by loading important proteins onto DNA.
- While RFC1's involvement in certain disorders is recognized, the impact of RFC2-5 subunits, particularly RFC4, on human genetic diseases remains under-researched.
- Our study identifies harmful variants in RFC4 linked to a new disorder marked by muscle weakness and hearing issues, showing how these variants disrupt RFC complex formation and ultimately affect DNA replication and cell cycle processes.
Background: Deep brain stimulation (DBS) has been utilized to treat various symptoms in patients suffering from movement disorders such as Parkinson's disease, dystonia, and essential tremor. Though ataxia syndromes have not been formally or frequently addressed with DBS, there are patients with ataxia and associated medication refractory tremor or dystonia who may potentially benefit from therapy.
Methods: A retrospective database review was performed, searching for cases of ataxia where tremor and/or dystonia were addressed by utilizing DBS at the University of Florida Center for Movement Disorders and Neurorestoration between 2008 and 2011.