title: Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Blanchard
authors.forename: Agathe
authors.initials: A
authors.lastname: Roubertie
authors.forename: Marion
authors.initials: M
authors.lastname: Simonetta-Moreau
authors.forename: Vuthy
authors.initials: V
authors.lastname: Ea
authors.forename: Coline
authors.initials: C
authors.lastname: Coquart
authors.forename: Melissa Y
authors.initials: MY
authors.lastname: Frederic
authors.forename: Gael
authors.initials: G
authors.lastname: Gallouedec
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Adenis
authors.forename: Isabelle
authors.initials: I
authors.lastname: Benatru
authors.forename: Michel
authors.initials: M
authors.lastname: Borg
authors.forename: Pierre
authors.initials: P
authors.lastname: Burbaud
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
authors.forename: Laura
authors.initials: L
authors.lastname: Cif
authors.forename: Philippe
authors.initials: P
authors.lastname: Damier
authors.forename: Alain
authors.initials: A
authors.lastname: Destee
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Lucie
authors.initials: L
authors.lastname: Guyant-Marechal
authors.forename: Piotr
authors.initials: P
authors.lastname: Janik
authors.forename: Samer
authors.initials: S
authors.lastname: Janoura
authors.forename: Alexandre
authors.initials: A
authors.lastname: Kreisler
authors.forename: Anna
authors.initials: A
authors.lastname: Lusakowska
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Anna
authors.initials: A
authors.lastname: Potulska-Chromik
authors.forename: Monika
authors.initials: M
authors.lastname: Rudzińska
authors.forename: Stephane
authors.initials: S
authors.lastname: Thobois
authors.forename: Isabelle
authors.initials: I
authors.lastname: Vuillaume
authors.forename: Christine
authors.initials: C
authors.lastname: Tranchant
authors.forename: Sylvie
authors.initials: S
authors.lastname: Tuffery-Giraud
authors.forename: Philippe
authors.initials: P
authors.lastname: Coubes
authors.forename: Bernard
authors.initials: B
authors.lastname: Sablonnière
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Gwenaelle
authors.initials: G
authors.lastname: Collod-Béroud
mesh_terms: D000328:Adult; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004422:Dystonia Musculorum Deformans / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human