title: An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Rosaria
authors.initials: R
authors.lastname: Buccoliero
authors.forename: Andrew
authors.initials: A
authors.lastname: Lee
authors.forename: J Raphael
authors.initials: JR
authors.lastname: Gorospe
authors.forename: Daniel
authors.initials: D
authors.lastname: Flint
authors.forename: Paolo
authors.initials: P
authors.lastname: Galluzzi
authors.forename: Silvia
authors.initials: S
authors.lastname: Bianchi
authors.forename: Camilla
authors.initials: C
authors.lastname: D'Eramo
authors.forename: Sakkubai
authors.initials: S
authors.lastname: Naidu
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.forename: Michael
authors.initials: M
authors.lastname: Brenner
mesh_terms: D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology; D045744:Cell Line, Tumor; D004252:DNA Mutational Analysis; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D055503:Protein Multimerization / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein