Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Burcu AtasuJavier Simón-SánchezHasmet HanagasiBasar BilgicAnn-Kathrin HauserGamze GuvenPeter HeutinkThomas GasserEbba LohmannPublished in: Journal of medical genetics (2024)
Here, using a structured approach, we have characterised a clinically and genetically well-defined dystonia cohort from Turkey, where dystonia has not been widely studied, and provided an uncovered genetic basis, which will facilitate diagnostic dystonia research.