Mutational screening of THAP1 in a German population with primary dystonia

Parkinsonism and Related Disorders

Volumn 18, Issue 1, 2012, Pages 104-106

  Kaffe, Maria ^a,b   Gross, Nadine ^a   Castrop, Florian ^a   Dresel, Christian ^a   Gieger, Christian ^b   Lichtner, Peter ^b   Haslinger, Bernhard ^a   Winkelmann, Juliane ^a  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

DYT6; Mutational screening; Primary dystonia; THAP1

Indexed keywords

ADENINE; GUANINE; LYSINE;

5' UNTRANSLATED REGION; ADULT; AGED; AMINO ACID SUBSTITUTION; CONTROLLED STUDY; EXON; FEMALE; FOCAL DYSTONIA; GENE FUNCTION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; GERMANY; HETEROZYGOSITY; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; RNA SPLICING; SEGMENTAL DYSTONIA; THAP1 GENE;

AGED; APOPTOSIS REGULATORY PROTEINS; DNA-BINDING PROTEINS; DYSTONIC DISORDERS; FEMALE; GENETIC TESTING; GERMANY; HUMANS; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS;

EID: 84655161926     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2011.06.023     Document Type: Letter

References (5)

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2. Kaiser F., Osmanoric A., Rakovic A., Erogullari A., Uflacker N., Braunholz D., et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010, 68(4):554-559.
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4. Desmet F.O., Hamroun D., Lalande M., Collod-Béroud G., Claustres M., Béroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009, 37(9):1-14.
5. Djarmati A., Schneider S.A., Lohmann K., Winkler S., Pawlack H., Hagenah J., et al. Mutations in THAP1 (DYT6) and generalized dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009, 8:447-452.