title: Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Klein
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Wu
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Duan
authors.forename: Sumit
authors.initials: S
authors.lastname: Middha
authors.forename: Brian D
authors.initials: BD
authors.lastname: Dawson
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Kocher
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Dyck
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D018450:Disease Progression; D004576:Electromyography; D059472:Exome / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D018908:Muscle Weakness / Q000209:etiology; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1
keywords: MOTOR NEURON DISEASE; NEUROGENETICS