Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.
Marsili L et al.
Biomedicines, 2024
39767580 (PubMed )
Supplement: biomedicines-12-02673-s001.zip › Supplementary_Table_S1.pdf
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
Tauchmannová K et al.
Physiological Research, 2024
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Neilson DE et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M et al.
Annals of Neurology, 2022
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