The role of de novo mutations in the development of amyotrophic lateral sclerosis - Doormaal, Perry T.C.; Ticozzi, Nicola; Weishaupt, Jochen H.; Kenna, Kevin; Diekstra, Frank P.; Verde, Federico; Andersen, Peter M.; Dekker, Annelot M.; Tiloca, Cinzia; Marroquin, Nicolai; Overste, Daniel J.; Pensato, Viviana; et al. (Human mutation, 2017)
Keywords: Alleles; ALS; Amino Acid Substitution; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - metabolism; C9orf72 Protein - genetics; Case-Control Studies; Data processing; Databases, Genetic; de novo mutations; disease pathway; Female; Genes; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Hypotheses; Male; motor neuron disease; Motor neurone disease; Mutation; Mutation Rate; Protein Interaction Mapping; Protein Interaction Maps; trios; Whole Exome Sequencing; Whole Genome Sequencing; ALS; disease pathway; motor neuron disease; amyotrophic lateral sclerosis; de novo mutations; trios