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Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.

Burcu AtasuJavier Simón-SánchezHasmet HanagasiBasar BilgicAnn-Kathrin HauserGamze GuvenPeter HeutinkThomas GasserEbba Lohmann
Published 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.
Keyphrases
  • deep brain stimulation
  • early onset
  • genome wide
  • copy number
  • dna methylation