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<p><strong>Title:</strong> Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS</p>
<p><strong>Year Published:</strong> 2011</p>
<p><strong>Observation:</strong> GGGGCC repeat affects C9ORF72 expression in a transcript specific manner. The GGGGCC repeat forms nuclear RNA foci in affected CNS regions of mutation carriers </p>
<p><strong>Comment:</strong> The GGGGCC repeat expansion leads to the loss of one alternatively spliced C9ORF72 transcript and to formation of nuclear RNA foci</p>
<p><strong>Citation:</strong> DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., … Rademakers, R. (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron, 72(2), 245–56. doi:10.1016/j.neuron.2011.09.011</p>
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