title: Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.
authors: Valeria
authors: V
authors: Dibilio
authors: Francesca
authors: F
authors: Cavalcanti
authors: Alessandra
authors: A
authors: Nicoletti
authors: Giovanni
authors: G
authors: Mostile
authors: Elisa
authors: E
authors: Bruno
authors: Grazia
authors: G
authors: Annesi
authors: Patrizia
authors: P
authors: Tarantino
authors: Monica
authors: M
authors: Gagliardi
authors: Antonio
authors: A
authors: Gambardella
authors: Aldo
authors: A
authors: Quattrone
authors: Mario
authors: M
authors: Zappia
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics*; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D007558:Italy; D009128:Muscle Spasticity / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D009896:Optic Atrophy / Q000175:diagnosis* / Q000235:genetics*; D012802:Sicily; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human; D006639:Histidine; D001120:Arginine