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1.
Blaschek, A.* et al.: TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor? Parkinsonism Relat. Disord. 109:105320 (2023)
2.
Indelicato, E. et al.: SOXopathies and dystonia: Consolidation of a recurrent association. Parkinsonism Relat. Disord. 119:105960 (2023)
3.
Necpál, J.* ; Winkelmann, J. ; Zech, M. & Jech, R.*: A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy. Parkinsonism Relat. Disord. 111:105437 (2023)
4.
Pavelekova, P.* et al.: Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders. Parkinsonism Relat. Disord. 111:105352 (2023)
5.
Doppler, K.* et al.: Association between probable REM sleep behavior disorder and increased dermal alpha-synuclein deposition in Parkinson's disease. Parkinsonism Relat. Disord. 99, 58-61 (2022)
6.
Dzinovic, I. et al.: Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes. Parkinsonism Relat. Disord. 102, 1-6 (2022)
7.
Dzinovic, I. ; Winkelmann, J. & Zech, M.: Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing. Parkinsonism Relat. Disord. 102, 131-140 (2022)
8.
Garavaglia, B.* et al.: AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. Parkinsonism Relat. Disord. 97, 52-56 (2022)
9.
Škorvánek, M.* et al.: WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat. Disord. 94, 54-61 (2022)
10.
Straccia, G.* et al.: ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome. Parkinsonism Relat. Disord. 104, 3-6 (2022)
11.
Svorenova, T.* et al.: Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. Parkinsonism Relat. Disord. 102, 89-91 (2022)
12.
Amprosi, M.* et al.: The rare and the common: An Austrian DRPLA family harboring the European haplotype. Parkinsonism Relat. Disord. 87, 119-121 (2021)
13.
Doppler, K.* et al.: Consistent skin alpha-synuclein positivity in REM sleep behavior disorder-A two center two-to-four-year follow-up study. Parkinsonism Relat. Disord. 86, 108-113 (2021)
14.
Dzinovic, I. et al.: Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series. Parkinsonism Relat. Disord. 90, 73-78 (2021)
15.
Pavelekova, P.* et al.: Atypical presentations of DYT1 dystonia with acute craniocervical onset. Parkinsonism Relat. Disord. 83, 54-55 (2021)
16.
Zech, M. et al.: Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. Parkinsonism Relat. Disord. 84, 129-134 (2021)
17.
Hopfner, F.* et al.: Private variants in PRKN are associated with late-onset Parkinson's disease. Parkinsonism Relat. Disord. 75, 24-26 (2020)
18.
Necpál, J.* et al.: Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier. Parkinsonism Relat. Disord. 77, 87-88 (2020)
19.
Zech, M. et al.: Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. Parkinsonism Relat. Disord. 77, 70-75 (2020)
20.
Becker, A.* ; Faßbender, K.* ; Oertel, W.H. & Unger, M.M.*: A punch in the gut - Intestinal inflammation links environmental factors to neurodegeneration in Parkinson's disease. Parkinsonism Relat. Disord. 60, 43-45 (2019)
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