Articles with "functional measurements" as a keyword



Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype

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Published in 2024 at "Communications Biology"

DOI: 10.1038/s42003-024-07120-6

Abstract: Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by hypermethylation of expanded CGG repeats (>200) in the FMR1 gene leading to gene silencing and loss of Fragile X Messenger Ribonucleoprotein (FMRP) expression. FMRP plays… read more here.

Keywords: disease phenotype; deep functional; fragile syndrome; functional measurements ... See more keywords