Heterogeneity in primary dystonia: Lessons fromTHAP1,GNAL, andTOR1Ain Amish-Mennonites

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia

(2013) Satya R. Vemula et al.   HUMAN MOLECULAR GENETICS

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

(2012) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CIZ1 cause adult onset primary cervical dystonia

(2012) Jianfeng Xiao et al.   ANNALS OF NEUROLOGY

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in theTUBB4gene

(2012) Katja Lohmann et al.   ANNALS OF NEUROLOGY

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

(2012) Joshua Hersheson et al.   ANNALS OF NEUROLOGY

Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia

(2012) Valerija S. Dobričić et al.   JOURNAL OF NEUROLOGY

THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations

(2012) Georgia Xiromerisiou et al.   MOVEMENT DISORDERS

Mutations in GNAL cause primary torsion dystonia

(2012) Tania Fuchs et al.   NATURE GENETICS

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

(2012) R. Saunders-Pullman et al.   NEUROLOGY

Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases

(2012) Mark S. LeDoux et al.   PARKINSONISM & RELATED DISORDERS

THAP1 mutations in a Greek primary blepharospasm series

(2012) Georgia Xiromerisiou et al.   PARKINSONISM & RELATED DISORDERS

Identification and functional analysis of novel THAP1 mutations

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

Pallidal deep brain stimulation for DYT6 dystonia

(2011) Fedor Panov et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

(2011) Arnaud Blanchard et al.   MOVEMENT DISORDERS

DYT 6-A novel THAP1 mutation with excellent effect on pallidal DBS

(2011) Robert Jech et al.   MOVEMENT DISORDERS

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

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

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

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

Prevalence of THAP1 sequence variants in German patients with primary dystonia

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

DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation

(2010) Justus L. Groen 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

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

(2010) Simone Zittel 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

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

(2010) H. Houlden et al.   NEUROLOGY

Bilateral pallidal stimulation in children and adolescents with primary generalized dystonia – Report of six patients and literature-based analysis of predictive outcomes variables

(2009) Ingo Borggraefe et al.   BRAIN & DEVELOPMENT

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

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

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

(2009) Tania Fuchs et al.   NATURE GENETICS

Unique disease heritage of the Dutch-German Mennonite population

(2008) Noelle C. Orton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A