D S Verbeek
Affiliation: University Medical Center Utrecht
Country: The Netherlands
- Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21Dineke 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...
- Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutationsDineke 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...
- Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3D 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...
- Gly118Asp is a SCA14 founder mutation in the Dutch ataxia populationDineke 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...
- SCA19 and SCA22: evidence for one locus with a worldwide distributionHelenius J Schelhaas
Brain 127:E6; author reply E7. 2004
- PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signalingDineke 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...