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Publications

Here you can find some of the top publications from our research team

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Van Rheenen et al. Nature Genetics. 2016 Sep;48(9):1043-8.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Kenna KP et al. Nature Genetics. 2016 Sep;48(9):1037-42.

Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defect. Sudria-Lopez E et al. Acta Neuropathol. 2016 Jul;132(1):145-7.

Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis. Huisman MH et al. JAMA Neurology. 2015 Oct;72(10):1155-62.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Cirulli ET et al. Science. 2015 Mar 27;347(6229):1436-41.

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Smith BN et al. Neuron. 2014 Oct 22;84(2):324-31.

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: genome-wide meta-analysis. Diekstra FP et al. Annals of Neurology. 2014 Jul;76(1):120-33.

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Goris A et al. Human Molecular Genetics. 2014 Apr 1;23(7):1916-22.

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Blauw HM et al. Human Molecular Genetics. 2012 Jun 1;21(11):2497-502.

Genome-wide association study identifies 19p13.3 UNC13A and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. van Es MA. et al. Nature Genetics. 2009 Oct;41(10):1083-7.