A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.

Jonas M den HeijerValerie C CullenMarialuisa QuadriArnoud SchmitzDana C HiltPeter LansburyHenk W BerendseWilma D J van de BergRob M A de BieJeffrey M BoertienAgnita J W BoonMaria Fiorella ContarinoJacobus J van HiltenJorrit I HoffTom van MierloAlex G MuntsAnne A van der PlasMirthe M PonsenFrank BaasDanielle Majoor-KrakauerVincenzo BonifatiTeus van LaarGeert J Groeneveld

Published in: Movement disorders : official journal of the Movement Disorder Society (2020)

Dutch Parkinson's disease patients display one of the largest frequencies of GBA1 variants reported so far, consisting in large part of the mild p.E326K variant and the more severe Dutch p.D140H + p.E326K founder allele. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC. on behalf of International Parkinson and Movement Disorder Society.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
prognostic factors
genome wide
gene expression
dna methylation
genome wide identification