title: First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.
authors.forename: A
authors.initials: A
authors.lastname: Magariello
authors.forename: C
authors.initials: C
authors.lastname: Tortorella
authors.forename: A
authors.initials: A
authors.lastname: Patitucci
authors.forename: R
authors.initials: R
authors.lastname: Tortelli
authors.forename: M
authors.initials: M
authors.lastname: Liguori
authors.forename: R
authors.initials: R
authors.lastname: Mazzei
authors.forename: F L
authors.initials: FL
authors.lastname: Conforti
authors.forename: L
authors.initials: L
authors.lastname: Citrigno
authors.forename: C
authors.initials: C
authors.lastname: Ungaro
authors.forename: I L
authors.initials: IL
authors.lastname: Simone
authors.forename: M
authors.initials: M
authors.lastname: Muglia
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001921:Brain / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human