title: NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
authors.forename: Stephan
authors.initials: S
authors.lastname: Klebe
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lacour
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
authors.forename: Christel
authors.initials: C
authors.lastname: Depienne
authors.forename: Sylvie
authors.initials: S
authors.lastname: Forlani
authors.forename: Sandrine
authors.initials: S
authors.lastname: Poea-Guyon
authors.forename: Isabelle
authors.initials: I
authors.lastname: Vuillaume
authors.forename: Bernard
authors.initials: B
authors.lastname: Sablonniere
authors.forename: Patrick
authors.initials: P
authors.lastname: Vermersch
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D002648:Child; D005060:Europe; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010264:Paraplegia / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C478824:NIPA1 protein, human