Associated Papers
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
40533913 (PubMed )
Supplement: ACN3-12-1648-s002.xlsx › Table_2_-_Pathogenic_vars
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39677454 (PubMed )
Supplement: media-1.xlsx › Table_2_-_Pathogenic_vars
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Mutational screening of THAP1 in a German population with primary dystonia.
Kaffe M et al.
Parkinsonism & Related Disorders, 2012
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Blanchard A et al.
Human Mutation, 2011
Parkinsonism and dystonia associated with adalimumab.
Ha AD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
Zittel S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
A molecular link between dystonia 1 and dystonia 6?
Müller U
Annals of Neurology, 2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Kaiser FJ et al.
Annals of Neurology, 2010
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Djarmati A et al.
The Lancet. Neurology, 2009
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