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TDP-43 cytoplasmic inclusion formation is disrupted in C9orf72-associated amyotrophic lateral sclerosis/frontotemporal lobar degeneration
The G4C2 hexanucleotide repeat expansion mutation in the C9orf72 gene is the most common genetic cause underlying both amyotrophic lateral sclerosis and frontotemporal dementia. Pathologically, these two neurodegenerative disorders are linked by the common presence of abnormal phosphorylated TDP-43...
Autores principales: | Lee, Samuel M, Asress, Seneshaw, Hales, Chadwick M, Gearing, Marla, Vizcarra, Juan C, Fournier, Christina N, Gutman, David A, Chin, Lih-Shen, Li, Lian, Glass, Jonathan D |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788139/ https://www.ncbi.nlm.nih.gov/pubmed/31633109 http://dx.doi.org/10.1093/braincomms/fcz014 |
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