Associated Papers
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.
Neighbors A et al.
Molecular Genetics & Genomic Medicine, 2020
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Ha AD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
Engl G et al.
Human Molecular Genetics, 2012
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