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Nat Rev Neurol. 2013 Feb;9(2):63-4. doi: 10.1038/nrneurol.2012.276. Epub 2013 Jan 15.

Motor neuron disease in 2012: Novel causal genes and disease modifiers.

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  • 1Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.


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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