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A novel homozygous variant in the MCOLN1 gene associated with severe oromandibular dystonia and Parkinsonism.

Aida GhasemiMahdieh Eslami ArdakaniMansoureh ToghaNarges YazdiAnthony E LangElahe AminiMohammad RohaniAfagh Alavi
Published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2024)
Keyphrases
  • early onset
  • deep brain stimulation
  • parkinson disease
  • drug induced
  • copy number
  • genome wide
  • genome wide identification
  • transcription factor
  • genome wide analysis