title: Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK, c.bettencourt@ucl.ac.uk.
authors.forename: Conceição
authors.initials: C
authors.lastname: Bettencourt
authors.forename: Justo García
authors.initials: JG
authors.lastname: de Yébenes
authors.forename: José Luis
authors.initials: JL
authors.lastname: López-Sendón
authors.forename: Orr
authors.initials: O
authors.lastname: Shomroni
authors.forename: Xingqian
authors.initials: X
authors.lastname: Zhang
authors.forename: Shu-Bing
authors.initials: SB
authors.lastname: Qian
authors.forename: Ingrid M C
authors.initials: IM
authors.lastname: Bakker
authors.forename: Sasja
authors.initials: S
authors.lastname: Heetveld
authors.forename: Raquel
authors.initials: R
authors.lastname: Ros
authors.forename: Beatriz
authors.initials: B
authors.lastname: Quintáns
authors.forename: María-Jesús
authors.initials: MJ
authors.lastname: Sobrido
authors.forename: Marianna R
authors.initials: MR
authors.lastname: Bevova
authors.forename: Shushant
authors.initials: S
authors.lastname: Jain
authors.forename: Marianna
authors.initials: M
authors.lastname: Bugiani
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.forename: Patrizia
authors.initials: P
authors.lastname: Rizzu
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005190:Family; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C467728:STUB1 protein, human; D044767:Ubiquitin-Protein Ligases