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Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

An intronic GGGGCC expansion in C9orf72 is the most common known cause of both frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The repeat expansion leads to the generation of sense and antisense repeat RNA aggregates and dipeptide repeat (DPR) proteins, generated by...

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Publicat a:Acta Neuropathol Commun
Autors principals: Mizielinska, Sarah, Ridler, Charlotte E., Balendra, Rubika, Thoeng, Annora, Woodling, Nathan S., Grässer, Friedrich A., Plagnol, Vincent, Lashley, Tammaryn, Partridge, Linda, Isaacs, Adrian M.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5395972/
https://ncbi.nlm.nih.gov/pubmed/28420437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-017-0432-x
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