Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2016.10.017
Abstract: Recent evidence indicates that adults with a premutation (PM: 55-199 CGG repeats) expansion in the fragile X mental retardation 1 (FMR1) gene show postural control deficits that may reflect disruption to cerebellar motor regions. Less… read more here.
Keywords: task; cerebellar volume; mrna levels; fmr1 mrna ... See more keywords
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Autism"
DOI: 10.1186/s13229-019-0271-7
Abstract: BackgroundFragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles… read more here.
Keywords: autism features; intellectual functioning; fmr1 mrna; autistic features ... See more keywords
White matter microstructure, cognition, and molecular markers in fragile X premutation females
Sign Up to like & getrecommendations! Published in 2017 at "Neurology"
DOI: 10.1212/wnl.0000000000003979
Abstract: Objective: To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM;… read more here.
Keywords: matter microstructure; fmr1 mrna; white matter;