NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.

Vittorio RisoS RossiA PernaT NicolettiL BoscoG ZanniG Silvestri

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)

Keyphrases

deep brain stimulation
late onset
parkinson disease
early onset
loop mediated isothermal amplification
real time pcr
label free
amyotrophic lateral sclerosis
sensitive detection