THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations

Identification and functional analysis of novel THAP1 mutations

(2011) Katja Lohmann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene

(2011) Arnaud Blanchard et al.   HUMAN MUTATION

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression

(2011) Fu Bo Cheng et al.   JOURNAL OF NEUROLOGY

Truncating mutations in THAP1 define the nuclear localization signal

(2011) Alma Osmanovic et al.   MOVEMENT DISORDERS

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

(2011) Susanne A. Schneider et al.   MOVEMENT DISORDERS

An African–American family with dystonia

(2011) Andreas Puschmann et al.   PARKINSONISM & RELATED DISORDERS

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia

(2010) Sophie Gavarini et al.   ANNALS OF NEUROLOGY

A molecular link between dystonia 1 and dystonia 6?

(2010) Ulrich Müller   ANNALS OF NEUROLOGY

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)

(2010) Frank J. Kaiser et al.   ANNALS OF NEUROLOGY

Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China

(2010) F. B. Cheng et al.   EUROPEAN JOURNAL OF NEUROLOGY

The epidemiology of primary dystonia: current evidence and perspectives

(2010) G. Defazio   EUROPEAN JOURNAL OF NEUROLOGY

Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

(2010) Sarah E. Flanagan et al.   Genetic Testing and Molecular Biomarkers

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

(2010) Nutan Sharma et al.   MOVEMENT DISORDERS

Prevalence of THAP1 sequence variants in German patients with primary dystonia

(2010) Anne S. Söhn et al.   MOVEMENT DISORDERS

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

(2010) Patricia De Carvalho Aguiar et al.   MOVEMENT DISORDERS

Adult-onset leg dystonia due to a missense mutation in THAP1

(2010) Jay A. Van Gerpen et al.   MOVEMENT DISORDERS

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

(2010) Fabienne Clot et al.   NEUROGENETICS

Novel THAP1 sequence variants in primary dystonia

(2010) J. Xiao et al.   NEUROLOGY

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

(2010) H. Houlden et al.   NEUROLOGY

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

(2009) Susan B Bressman et al.   LANCET NEUROLOGY

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

(2009) Ana Djarmati et al.   LANCET NEUROLOGY

Transcriptional dysregulation: a cause of dystonia?

(2009) Gen Tamiya   LANCET NEUROLOGY

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

(2009) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

TheTOR1Apolymorphism rs1182 and the risk of spread in primary blepharospasm

(2009) Giovanni Defazio et al.   MOVEMENT DISORDERS

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

(2009) Tania Fuchs et al.   NATURE GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

(2008) Sarah Camargos et al.   LANCET NEUROLOGY

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12

(2008) E. Chouery et al.   NEUROGENETICS