In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neuropathologica"
DOI: 10.1007/s00401-017-1725-7
Abstract: A growing body of evidence suggests that a loss of chromosome 9 open reading frame 72 (C9ORF72) expression, formation of dipeptide-repeat proteins, and generation of RNA foci contribute to disease pathogenesis in amyotrophic lateral sclerosis… read more here.
Keywords: c9orf72 expansion; rna foci; expansion carriers; rna ... See more keywords
No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers
Sign Up to like & getrecommendations! Published in 2021 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2020.07.021
Abstract: We investigated the impact of the recently described chromosome 6 open reading frame 10 (C6orf10)/LOC101929163 locus as age-at-onset modifier in an extended cohort of Belgian chromosome 9 open reading frame 72 (C9orf72) G4C2 repeat expansion… read more here.
Keywords: c9orf72 repeat; expansion carriers; age; repeat ... See more keywords
An Exploratory Study Investigating Autonomy in Huntington's Disease Gene Expansion Carriers.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Huntington's disease"
DOI: 10.3233/jhd-220540
Abstract: BACKGROUND Autonomy describes a psychological state of self-regulation of motivation and action, which is a central characteristic of healthy functioning. In neurodegenerative diseases measures of self-perception have been found to be affected by the disease.… read more here.
Keywords: huntington disease; disease; gene expansion; disease gene ... See more keywords