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
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Isolated dystonia: clinical and genetic updates.
Domingo A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG et al.
Acta Neurologica Scandinavica, 2017
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
da Silva-Junior FP et al.
Journal of the Neurological Sciences, 2014
DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients.
Camargo CH et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2014
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