In 2012, researchers published extensively on the genetic and clinicopathological characterization of patients with the newly discovered C9ORF72 repeat expansions, which cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Novel ALS-linked genes and genetic modifiers were identified through screening in animal models and patients.
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Acknowledgements
R. Rademakers is currently funded by NIH grants P50 AG016574, R01 AG026251, R01 NS065782 and R01 NS080882, the ALS Therapy Alliance and the Consortium for Frontotemporal Dementia Research.
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R. Rademakers holds a patent on methods to screen for the hexanucleotide repeat expansion in the C9ORF72 gene. M. van Blitterswijk declares no competing interests.
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Rademakers, R., van Blitterswijk, M. Novel causal genes and disease modifiers. Nat Rev Neurol 9, 63–64 (2013). https://doi.org/10.1038/nrneurol.2012.276
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DOI: https://doi.org/10.1038/nrneurol.2012.276
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