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1.
Dzinovic, I. et al.: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. Neurogenetics 22, 137-141 (2021)
2.
Dzinovic, I. et al.: Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. Neurogenetics, DOI: 10.1007/s10048-021-00641-w (2021)
3.
Amprosi, M.* et al.: Familial writer's cramp: A clinical clue for inherited coenzyme Q10 deficiency. Neurogenetics 22, 81–86 (2020)
4.
Spiegler, S.* et al.: First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. Neurogenetics 19, 55–59 (2018)
5.
Carecchio, M.* et al.: Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: A de novo PSEN-1 mutation. Neurogenetics 18, 175-178 (2017)
6.
Glasgow, R.I.C.* et al.: Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics 18, 1-9 (2017)
7.
Zech, M. et al.: Molecular diversity of combined and complex dystonia: Insights from diagnostic exome sequencing. Neurogenetics 18, 195–205 (2017)
8.
Baertling, F.* et al.: MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities. Neurogenetics 16, 237-240 (2015)
9.
Distelmaier, F.* et al.: MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy. Neurogenetics 16, 319-323 (2015)
10.
Schulte, E.C. et al.: Rare variants in LRRK1 and Parkinson's disease. Neurogenetics 15, 49-57 (2014)
11.
Schmied, M.C.* et al.: Replication study of Multiple Sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients. Neurogenetics 13, 181-187 (2012)
12.
Schulte, E.C. et al.: Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease. Neurogenetics 13, 281-285 (2012)
13.
Soehn, A.S.* et al.: Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. Neurogenetics 11, 203-215 (2010)
14.
Stogmann, E.* et al.: A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. Neurogenetics 10, 73-77 (2009)
15.
Kemlink, D. et al.: Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neurogenetics 9, 75-82 (2008)
16.
Stogmann, E.* et al.: Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes. Neurogenetics 7, 265-268 (2006)
17.
Asmus, F.* et al.: Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome. Neurogenetics 6, 55-56 (2005)
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