title: The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?
authors.affiliation: Department of Neurology, University of Lübeck, Germany.
authors.forename: N
authors.initials: N
authors.lastname: Brüggemann
authors.forename: N
authors.initials: N
authors.lastname: Kock
authors.forename: K
authors.initials: K
authors.lastname: Lohmann
authors.forename: I R
authors.initials: IR
authors.lastname: König
authors.forename: A
authors.initials: A
authors.lastname: Rakovic
authors.forename: J
authors.initials: J
authors.lastname: Hagenah
authors.forename: A
authors.initials: A
authors.lastname: Schmidt
authors.forename: A
authors.initials: A
authors.lastname: Ziegler
authors.forename: H C
authors.initials: HC
authors.lastname: Jabusch
authors.forename: H
authors.initials: H
authors.lastname: Siebner
authors.forename: E
authors.initials: E
authors.lastname: Altenmüller
authors.forename: A
authors.initials: A
authors.lastname: Münchau
authors.forename: C
authors.initials: C
authors.lastname: Klein
mesh_terms: D000328:Adult; D000368:Aged; D001764:Blepharospasm / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020821:Dystonic Disorders / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D005192:Family Health; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D019683:Penetrance; D011110:Polymorphism, Genetic / Q000235:genetics*; D014103:Torticollis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human