Chesi et al. use exome sequencing of trios consisting of subjects with amyotrophic lateral sclerosis and their parents to find de novo variants in 25 genes, one of which is the chromatin regulator SS18L1 (CREST).
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Bryan Traynor has a patent pending on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of C90RF72
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Renton, A., Traynor, B. CRESTing the ALS mountain. Nat Neurosci 16, 774–775 (2013). https://doi.org/10.1038/nn.3444
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DOI: https://doi.org/10.1038/nn.3444
