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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Publicado en:Acta Neuropathol Commun
Autores principales: West, Ryan J. H., Sharpe, Joanne L., Voelzmann, André, Munro, Anna L., Hahn, Ines, Baines, Richard A., Pickering-Brown, Stuart
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea: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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