Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.
Eric YuUladzislau RudakouLynne KrohnKheireddin MuftiJennifer A RuskeyFarnaz AsayeshMehrdad A EstiarDan SpiegelmanMatthew SurfaceStanley FahnCheryl H WatersLior GreenbaumAlberto J EspayYves DauvilliersNicolas DupréGuy A RouleauSharon Hassin-BaerEdward A FonRoy N AlcalayZiv Gan OrPublished in: Movement disorders : official journal of the Movement Disorder Society (2020)
Heterozygous single-nucleotide variants and CNVs in PRKN are not associated with PD. Molecular inversion probes allow for rapid and cost-effective detection of all types of PRKN variants, which may be useful for pretrial screening and for clinical and basic science studies targeting specifically PRKN patients. © 2020 International Parkinson and Movement Disorder Society.
Keyphrases
- copy number
- mitochondrial dna
- genome wide
- end stage renal disease
- early onset
- dna methylation
- ejection fraction
- loop mediated isothermal amplification
- newly diagnosed
- chronic kidney disease
- public health
- prognostic factors
- small molecule
- single molecule
- peritoneal dialysis
- patient reported outcomes
- computed tomography
- magnetic resonance
- fluorescence imaging
- drug delivery
- quantum dots