- The role of mutations in COL6A3 in isolated dystoniaKatja Lohmann
Institute of Neurogenetics, University of Lübeck Ratzeburger Allee 160, 23538, Lubeck, Germany
J Neurol 263:730-4. 2016..In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question...
- Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humansKatja Lohmann
1 Institute of Neurogenetics, University of Lubeck, 23538 Lubeck, Germany
Hum Mol Genet . 2017..In conclusion, we demonstrate a pathogenic role of de novo and autosomal dominant mutations in GNB1 as a cause of GDD and provide insights how perturbation in heterotrimeric G protein function contributes to the disease...
- Identification and functional analysis of novel THAP1 mutationsKatja Lohmann
Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
Eur J Hum Genet 20:171-5. 2012..Speech was affected in four mutation carriers. In conclusion, THAP1 mutations are rare in unselected dystonia patients and functional analysis is necessary to distinguish between benign variants and pathogenic mutations...
- [Genetics of movement disorders]K Lohmann
Institut für Neurogenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Deutschland
Nervenarzt 84:143-50. 2013..In this article, we summarize known monogenic forms and the associated phenotype as well as genetic risk factors and review the function of relevant genes and proteins...
- Autosomal dominant Parkinson's disease in a large German pedigreeN Bruggemann
Division of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
Acta Neurol Scand 126:129-37. 2012..While several genes have been identified to cause Parkinson's disease (PD), monogenic forms explain only a small proportion of cases. We report clinical and genetic results in a large family with late-onset autosomal dominant PD...
- Glucocerebrosidase mutations in a Serbian Parkinson's disease populationK R Kumar
Department of Neurology, Section of Clinical and Molecular Neurogenetics, University of Lubeck, Lubeck, Germany
Eur J Neurol 20:402-5. 2013..To screen for glucocerebrosidase (GBA) mutations in a Serbian Parkinson's disease (PD) population...
- Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutationP Krause
Department of Neurology, Charite, University Medicine Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany
J Neurol 262:2739-44. 2015..Overall, our observation supports pallidal DBS as an important treatment option in patients with DYT6 dystonia...
- Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotypeB F L van Nuenen
Department of Neurology, Christian Albrechts University, Kiel, Germany
Neurology 72:1041-7. 2009..Specifically, we examined how a single heterozygous mutation in different genes associated with recessively inherited Parkinson disease alters the cortical control of sequential finger movements...