title: Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.
authors.affiliation: E. Medea Scientific Institute, Conegliano Research Centre, Conegliano, TV, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Dalpozzo
authors.forename: M G
authors.initials: MG
authors.lastname: Rossetto
authors.forename: F
authors.initials: F
authors.lastname: Boaretto
authors.forename: E
authors.initials: E
authors.lastname: Sartori
authors.forename: M L
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: A
authors.initials: A
authors.lastname: Daga
authors.forename: M T
authors.initials: MT
authors.lastname: Bassi
authors.forename: A
authors.initials: A
authors.lastname: Martinuzzi
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D020233:Gait Disorders, Neurologic / Q000235:genetics; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins