D S Verbeek

Summary

Affiliation: University Medical Center Utrecht
Country: The Netherlands

Publications

  1. ncbi Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
    Dineke S Verbeek
    Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands
    Hum Genet 111:388-93. 2002
  2. ncbi Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations
    Dineke S Verbeek
    Department of Medical Genetics, University Medical Center, Stratenum, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Eur J Hum Genet 12:441-6. 2004
  3. ncbi Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
    D S Verbeek
    Department of Biomedical Genetics, Stratenum 2 112, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, The Netherlands
    Brain 127:2551-7. 2004
  4. ncbi Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
    Dineke S Verbeek
    Department of Biomedical Genetics, University Medical Center Utrecht, Stratenum, The Netherlands
    Hum Genet 117:88-91. 2005
  5. ncbi SCA19 and SCA22: evidence for one locus with a worldwide distribution
    Helenius J Schelhaas
    Brain 127:E6; author reply E7. 2004
  6. doi PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling
    Dineke S Verbeek
    Department of Cell Biology and Histology, Academic Medical Center, University of Amsterdam, AZ Amsterdam, The Netherlands
    J Cell Sci 121:2339-49. 2008

Collaborators

Detail Information

Publications6

  1. ncbi Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
    Dineke S Verbeek
    Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands
    Hum Genet 111:388-93. 2002
    ..So far, a molecular analysis in these SCA genes cannot be made in about one-third of the ADCA families. Thus, the identification of this new, additional SCA19 locus will contribute to expanding the DNA diagnostic possibilities...
  2. ncbi Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations
    Dineke S Verbeek
    Department of Medical Genetics, University Medical Center, Stratenum, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Eur J Hum Genet 12:441-6. 2004
    ..These results strongly suggest that ADCA families can be traced back to common ancestors in particular parts of the Netherlands...
  3. ncbi Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
    D S Verbeek
    Department of Biomedical Genetics, Stratenum 2 112, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, The Netherlands
    Brain 127:2551-7. 2004
    ..In addition to the recently identified SCA14, SCA19 and FGF14 families, SCA23 is yet another novel SCA locus in the Dutch ADCA population, which further defines the genetic heterogeneity of ADCA families in the Netherlands...
  4. ncbi Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
    Dineke S Verbeek
    Department of Biomedical Genetics, University Medical Center Utrecht, Stratenum, The Netherlands
    Hum Genet 117:88-91. 2005
    ..We therefore confirmed that the Gly118Asp mutation is a SCA14 founder mutation in the Dutch ADCA population...
  5. ncbi SCA19 and SCA22: evidence for one locus with a worldwide distribution
    Helenius J Schelhaas
    Brain 127:E6; author reply E7. 2004
  6. doi PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling
    Dineke S Verbeek
    Department of Cell Biology and Histology, Academic Medical Center, University of Amsterdam, AZ Amsterdam, The Netherlands
    J Cell Sci 121:2339-49. 2008
    ..Together, these results show that SCA14 mutations located in the C1B subdomain ;open' PKCgamma protein conformation leading to increased C1 domain accessibility, but inefficient activation of downstream signaling pathways...