Article
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
Neurobiology of aging - 1 Mar 2017
Black Holly A, Leighton Danielle J, Cleary Elaine M, Rose Elaine, Stephenson Laura, Colville Shuna, Ross David, Warner Jon, Porteous Mary, Gorrie George H, Swingler Robert, Goldstein David, Harms Matthew B, Connick Peter, Pal Suvankar, Aitman Timothy J, Chandran Siddharthan
Abstract excerpt
Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. Our aim was to determine the frequency of pathogenic variants in known MND genes and to assess whether variants in TBK1 and NEK1 contribute to the burden of MND in the Scottish population. SOD1, TARDBP, OPTN, TBK1, and NEK1 were...
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