Franziska Hopfner

Summary

Country: Germany

Publications

  1. pmc Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features
    Franziska Hopfner
    Institute of Human Genetics, Helmholtz Zentrum Munchen German Research Center for Environmental Health, Neuherberg, Germany
    BMC Neurol 11:134. 2011
  2. doi request reprint The role of SCARB2 as susceptibility factor in Parkinson's disease
    Franziska Hopfner
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany
    Mov Disord 28:538-40. 2013

Detail Information

Publications2

  1. pmc Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features
    Franziska Hopfner
    Institute of Human Genetics, Helmholtz Zentrum Munchen German Research Center for Environmental Health, Neuherberg, Germany
    BMC Neurol 11:134. 2011
    ..To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features...
  2. doi request reprint The role of SCARB2 as susceptibility factor in Parkinson's disease
    Franziska Hopfner
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany
    Mov Disord 28:538-40. 2013
    ..An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined...