Novel mutations support a role for Profilin 1 in the pathogenesis of ALS - Smith, Bradley N.; Vance, Caroline; Scotter, Emma L.; Troakes, Claire; Wong, Chun Hao; Topp, Simon; Maekawa, Satomi; King, Andrew; Mitchell, Jacqueline C.; Lund, Karan; Al-Chalabi, Ammar; Ticozzi, Nicola; et al. (Neurobiology of aging, 2015)
Keywords: Alleles; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - pathology; Animals; Case-Control Studies; Cells, Cultured; Cohort Studies; DNA-Binding Proteins - metabolism; Female; Genetic Association Studies; Genetic Predisposition to Disease - genetics; Genetic Report Abstract; Genetic Variation - genetics; Humans; Internal Medicine; Male; Meta-Analysis as Topic; Mutation - genetics; Neurology; Profilin 1; Profilins - genetics; Protein Aggregation, Pathological - genetics; Protein Aggregation, Pathological - pathology; TDP-43 proteinopathy; Profilin 1; Amyotrophic lateral sclerosis; TDP-43 proteinopathy