title: The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.
authors.forename: Angela
authors.initials: A
authors.lastname: Magariello
authors.forename: Carla
authors.initials: C
authors.lastname: Tortorella
authors.forename: Luigi
authors.initials: L
authors.lastname: Citrigno
authors.forename: Alessandra
authors.initials: A
authors.lastname: Patitucci
authors.forename: Rosanna
authors.initials: R
authors.lastname: Tortelli
authors.forename: Rosalucia
authors.initials: R
authors.lastname: Mazzei
authors.forename: Francesca Luisa
authors.initials: FL
authors.lastname: Conforti
authors.forename: Carmine
authors.initials: C
authors.lastname: Ungaro
authors.forename: William
authors.initials: W
authors.lastname: Sproviero
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
mesh_terms: D018450:Disease Progression; D004576:Electromyography; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D019204:GTP-Binding Proteins