Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy.

Renske I WadmanMarc D JansenChantall A D CurialEwout Joan Nicolaas GroenMarloes StamCamiel A WijngaardeJelena MedicPeter SodaarKristel R van EijkManon M H HuibersJoyce van KuikHenny H LemminkWouter van RheenenJan Herman VeldinkLeonard H van den BergW Ludo van der Pol

Published in: Neurology. Genetics (2019)

PLS3 and FUS sequence variants do not modify SMA severity at the population level. Specific variants in individual patients or families do not consistently correlate with disease severity.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
gene expression
patient reported outcomes
dna methylation
climate change
amino acid