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Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.

Björn-Hergen LaabsKatja LohmannEva-Juliane VollstedtTobias ReinbergerLisa-Marie NuxollGamze Kilic-BerkmenJoel S PerlmutterSebastian LoensCruchaga CarlosAndre FrankeValerija DobricicFrauke HinrichsAnne GrözingerEckart AltenmüllerSteven BellowsSylvia BoeschSusan B BressmanKevin R DuqueAlberto J EspayAndreas FerbertJeanne S FeuersteinSamuel FrankThomas GasserBernhard HaslingerRobert JechFrank KaiserChristoph KammKatja KolleweAndrea A KühnMark S LeDouxEbba LohmannAbhimanyu MahajanAlexander MünchauTrisha Multhaupt-BuellAlexander Y PantelyatSarah E Pirio RichardsonDeborah RaymondStephen G ReichRachel Saunders-PullmanBarbara SchormairNutan SharmaAzadeh Hamzehei SichaniKristina SimonyanJens VolkmannAparna Wagle ShuklaJuliane WinkelmannLaura J WrightMichael ZechKirsten E ZeunerSimone ZittelMeike KastenYan V SunTobias BäumerNorbert BrüggemannLaurie J OzeliusHyder A JinnahChristine KleinInke R König
Published in: Movement disorders : official journal of the Movement Disorder Society (2024)
Moderate single-nucleotide polymorphism-based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence-based GWASs (eg, by whole-genome sequencing) might help to better understand the genetic basis. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Keyphrases
  • genome wide association
  • deep brain stimulation
  • copy number
  • risk factors
  • early onset
  • genome wide
  • high intensity
  • dna methylation
  • systematic review
  • gene expression
  • amino acid