Late-onset parkinsonism in a patient with a novel frameshift THAP1 variant

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

(2021) Lara M. Lange et al.   MOVEMENT DISORDERS

Development of parkinsonism after long-standing cervical dystonia – A cohort

(2021) Bettina Balint et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

(2019) Marija Dulovic-Mahlow et al.   PARKINSONISM & RELATED DISORDERS

OUP accepted manuscript

(2018)   BRAIN

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

(2018) Zuchra Zakirova et al.   PLoS Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Phenomenology and classification of dystonia: A consensus update

(2013) Alberto Albanese et al.   MOVEMENT DISORDERS

THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations

(2012) Georgia Xiromerisiou et al.   MOVEMENT DISORDERS

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

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

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

(2009) Ana Djarmati et al.   LANCET NEUROLOGY

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

(2009) Tania Fuchs et al.   NATURE GENETICS