STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.

Raquel Baviera-MuñozLidón Carretero-VilarroigAna Pedro-IborTeresa JaijoAndrea Del Valle-CarranzaIrene Martínez-TorresJose M MillánLuis Bataller Elena Aller

Published in: Movement disorders : official journal of the Movement Disorder Society (2024)

The findings reported in this study might suggest a genetic synergism between STUB1 and ATXN8OS/ATXN8 expanded alleles. Further studies are needed to validate this observation and better define the clinical impact of this genetic interaction. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyphrases

genome wide
copy number
systematic review
gene expression
early onset
dna methylation