Associated Papers
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Atasu B et al.
Journal of Medical Genetics, 2024
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.
Ma H et al.
Frontiers in Neurology, 2021
Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India.
Holla VV et al.
Parkinsonism & Related Disorders, 2020
Cerebellar Involvement in DYT-THAP1 Dystonia.
Nikolov P et al.
Cerebellum (london, England), 2019
New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG et al.
Acta Neurologica Scandinavica, 2017
Blepharospasm in a multiplex African-American pedigree.
Xiao J et al.
Journal of the Neurological Sciences, 2016
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.
Ruiz M et al.
Human Molecular Genetics, 2015
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.
Vemula SR et al.
Molecular Genetics & Genomic Medicine, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
LeDoux MS et al.
Parkinsonism & Related Disorders, 2012
Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias.
Newman JR et al.
Parkinsonism & Related Disorders, 2012
Identification and functional analysis of novel THAP1 mutations.
Lohmann K et al.
European Journal of Human Genetics : Ejhg, 2012
Mutational screening of THAP1 in a German population with primary dystonia.
Kaffe M et al.
Parkinsonism & Related Disorders, 2012
Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy.
Spagnolo F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
Cheng FB et al.
European Journal of Neurology, 2011
The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.
Xiao J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Phenotypic spectrum of musician's dystonia: a task-specific disorder?
Schmidt A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011