K Lohmann

Summary

Country: Germany

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

Publications5

  1. 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...
  2. 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...
  3. 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...
  4. 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...
  5. 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...