title: Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.
authors.affiliation: INSERM U289, Hôpital de la Salpêtrière, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Stevanin
authors.forename: E
authors.initials: E
authors.lastname: Cassa
authors.forename: G
authors.initials: G
authors.lastname: Cancel
authors.forename: N
authors.initials: N
authors.lastname: Abbas
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: E
authors.initials: E
authors.lastname: Jardim
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
authors.forename: P S
authors.initials: PS
authors.lastname: Sousa
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D000328:Adult; D000368:Aged; D000067699:Ataxin-3; D001938:Brazil; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium; D017827:Machado-Joseph Disease / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011174:Portugal; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins; D018911:Trinucleotide Repeats
chemical_list: D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3