K Lohmann

Summary

Country: Germany

Publications

  1. doi request reprint The role of mutations in COL6A3 in isolated dystonia
    Katja Lohmann
    Institute of Neurogenetics, University of Lübeck Ratzeburger Allee 160, 23538, Lubeck, Germany
    J Neurol 263:730-4. 2016
  2. doi request reprint Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
    Katja Lohmann
    1 Institute of Neurogenetics, University of Lubeck, 23538 Lubeck, Germany
    Hum Mol Genet . 2017
  3. pmc Identification and functional analysis of novel THAP1 mutations
    Katja Lohmann
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    Eur J Hum Genet 20:171-5. 2012
  4. doi request reprint [Genetics of movement disorders]
    K Lohmann
    Institut für Neurogenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Deutschland
    Nervenarzt 84:143-50. 2013
  5. doi request reprint Autosomal dominant Parkinson's disease in a large German pedigree
    N Bruggemann
    Division of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Acta Neurol Scand 126:129-37. 2012
  6. doi request reprint Glucocerebrosidase mutations in a Serbian Parkinson's disease population
    K R Kumar
    Department of Neurology, Section of Clinical and Molecular Neurogenetics, University of Lubeck, Lubeck, Germany
    Eur J Neurol 20:402-5. 2013
  7. doi request reprint Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation
    P Krause
    Department of Neurology, Charite, University Medicine Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany
    J Neurol 262:2739-44. 2015
  8. pmc Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype
    B F L van Nuenen
    Department of Neurology, Christian Albrechts University, Kiel, Germany
    Neurology 72:1041-7. 2009

Collaborators

Detail Information

Publications8

  1. doi request reprint The role of mutations in COL6A3 in isolated dystonia
    Katja 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...
  2. doi request reprint Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
    Katja 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...
  3. pmc Identification and functional analysis of novel THAP1 mutations
    Katja 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...
  4. doi request reprint [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...
  5. doi request reprint Autosomal dominant Parkinson's disease in a large German pedigree
    N 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...
  6. doi request reprint Glucocerebrosidase mutations in a Serbian Parkinson's disease population
    K 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...
  7. doi request reprint Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation
    P 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...
  8. pmc Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype
    B 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...