title: Pure cerebellar ataxia linked to large C9orf72 repeat expansion.
authors.affiliation: a Centre SLA , CHU Tours .|b UMR INSERM U930 , Université François-Rabelais de Tours , Tours .
authors.forename: Philippe
authors.initials: P
authors.lastname: Corcia
authors.affiliation: b UMR INSERM U930 , Université François-Rabelais de Tours , Tours .|c Service de Biochimie et Biologie Moléculaire , CHRU de Tours , Tours .
authors.forename: Patrick
authors.initials: P
authors.lastname: Vourc'h
authors.affiliation: a Centre SLA , CHU Tours .
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Guennoc
authors.affiliation: f Fédération des Maladies du Système Nerveux , Hôpital de la Salpêtrière , Paris , France.
authors.forename: Maria
authors.initials: M
authors.lastname: Del Mar Amador
authors.affiliation: b UMR INSERM U930 , Université François-Rabelais de Tours , Tours .|c Service de Biochimie et Biologie Moléculaire , CHRU de Tours , Tours .
authors.forename: Hélène
authors.initials: H
authors.lastname: Blasco
authors.affiliation: b UMR INSERM U930 , Université François-Rabelais de Tours , Tours .|c Service de Biochimie et Biologie Moléculaire , CHRU de Tours , Tours .
authors.forename: Christian
authors.initials: C
authors.lastname: Andres
authors.affiliation: d Centre SLA Service de Neurologie , CHU Dupuytren , Limoges , France .
authors.forename: Philippe
authors.initials: P
authors.lastname: Couratier
authors.affiliation: e Northern Navajo Medical Center , Shiprock , NM , USA , and.
authors.forename: Paul H
authors.initials: PH
authors.lastname: Gordon
authors.affiliation: a Centre SLA , CHU Tours .
authors.forename: Vincent
authors.initials: V
authors.lastname: Meininger
mesh_terms: D000328:Adult; D000073885:C9orf72 Protein; D002524:Cerebellar Ataxia / Q000000981:diagnostic imaging / Q000235:genetics*; D042622:DNA Repeat Expansion / Q000235:genetics*; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins