Associated Papers
A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.
Wu R et al.
Frontiers in Neurology, 2023
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME et al.
Journal of Neurology, 2022
35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
The role of mutations in COL6A3 in isolated dystonia.
Lohmann K et al.
Journal of Neurology, 2016
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Zech M et al.
American Journal of Human Genetics, 2015
Select a paper to view details