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Improved detection of RNA foci in C9orf72 amyotrophic lateral sclerosis post-mortem tissue using BaseScope™ shows a lack of association with cognitive dysfunction

The C9orf72 hexanucleotide repeat expansion is the commonest known genetic mutation in amyotrophic lateral sclerosis. A neuropathological hallmark is the intracellular accumulation of RNA foci. The role that RNA foci play in the pathogenesis of amyotrophic lateral sclerosis is widely debated. Histor...

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Detalles Bibliográficos
Autores principales: Mehta, Arpan R, Selvaraj, Bhuvaneish T, Barton, Samantha K, McDade, Karina, Abrahams, Sharon, Chandran, Siddharthan, Smith, Colin, Gregory, Jenna M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099934/
https://www.ncbi.nlm.nih.gov/pubmed/32226938
http://dx.doi.org/10.1093/braincomms/fcaa009