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C9orf72 Nucleotide Repeat Structures Initiate Molecular Cascades of Disease
A hexanucleotide repeat expansion (HRE), (GGGGCC)(n), in C9orf72 is the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we identify a molecular mechanism by which structural polymorphism of the HRE leads to ALS/F...
Autores principales: | Haeusler, Aaron R., Donnelly, Christopher J., Periz, Goran, Simko, Eric A.J., Shaw, Patrick G., Kim, Min-Sik, Maragakis, Nicholas J., Troncoso, Juan C., Pandey, Akhilesh, Sattler, Rita, Rothstein, Jeffrey D., Wang, Jiou |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046618/ https://www.ncbi.nlm.nih.gov/pubmed/24598541 http://dx.doi.org/10.1038/nature13124 |
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