Co-expression of C9orf72 related dipeptide-repeats over 1000 repeat units reveals age- and combination-specific phenotypic profiles in Drosophila

A large intronic hexanucleotide repeat expansion (GGGGCC) within the C9orf72 (C9orf72-SMCR8 Complex Subunit) locus is the most prevalent genetic cause of both Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND). In patients this expansion is typically hundreds to thousands of repeat units i...

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Détails bibliographiques
Publié dans:Acta Neuropathol Commun
Auteurs principaux: West, Ryan J. H., Sharpe, Joanne L., Voelzmann, André, Munro, Anna L., Hahn, Ines, Baines, Richard A., Pickering-Brown, Stuart
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2020
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7487709/
https://ncbi.nlm.nih.gov/pubmed/32894207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-01028-y
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