Khosravi, S.* et al. AOPEP-related dystonia with supranuclear vertical gaze palsy. Mov. Disord. Clin. Pract., DOI: 10.1002/mdc3.70150 (2025)
Schinwelski, M.* ; Krygier, M.* ; Sitek, E.J.* ; Mazurkiewicz-Bełdzińska, M.* & Zech, M. New progressive generalized dystonia phenotype in a patient with NBEA-related neurodevelopmental disease. Mov. Disord. Clin. Pract. 12, 1184-1186 (2025)
Badmann, S.* ; Castrop, F.* ; Brugger, M.* ; Winkelmann, J. & Zech, M. Adult-onset parkinsonism as late manifestation of HIVEP2-associated developmental disorder. Mov. Disord. Clin. Pract., DOI: 10.1002/mdc3.14156 (2024)
Dzinovic, I. et al. Challenges in establishing the diagnosis of PRRT2-related dystonia: Recurrent pathogenic variants in a homopolymeric stretch. Mov. Disord. Clin. Pract. 10, 1159-1161 (2023)
Monfrini, E.* et al. Dominant VPS16 pathogenic variants: Not only isolated dystonia. Mov. Disord. Clin. Pract. 11, 87-93 (2023)
Danhofer, P.* et al. Brittle biballism-dystonia in a pediatric patient with GNAO1 mutation managed using pallidal deep brain stimulation. Mov. Disord. Clin. Pract. 8, 153-155 (2021)
Hübers, A.* ; Huppertz, H.J.* ; Wortmann, S.B. & Kassubek, J.* Mutation of the WARS2 gene as the cause of a severe hyperkinetic movement disorder. Mov. Disord. Clin. Pract. 7, 88-90 (2020)
Necpál, J.* et al. Ataxia telangiectasia gene mutation in isolated segmental dystonia without ataxia and telangiectasia. Mov. Disord. Clin. Pract. 5, 89-91 (2018)
Schulte, E.C. ; Kaffe, M.* ; Schormair, B. & Winkelmann, J. Iron in restless legs syndrome. Mov. Disord. Clin. Pract. 1, 161-172 (2014)