title: Motor neuron disease in 2012: Novel causal genes and disease modifiers.
abstract: 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.
authors: Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. rademakers.rosa@mayo.edu
authors: Rosa
authors: R
authors: Rademakers
authors: Marka
authors: M
authors: van Blitterswijk
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D000818:Animals; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004195:Disease Models, Animal; D018450:Disease Progression; D057180:Frontotemporal Dementia / Q000235:genetics; D017353:Gene Deletion; D055106:Genome-Wide Association Study; D006801:Humans; D051379:Mice; D016472:Motor Neuron Disease / Q000188:drug therapy* / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D051381:Rats; D015027:Zebrafish
chemical_list: D004268:DNA-Binding Proteins