VPS35 mutations in Parkinson disease.

@article{VilarioGell2011VPS35MI,
  title={VPS35 mutations in Parkinson disease.},
  author={C. Vilari{\~n}o-G{\"u}ell and C. Wider and O. Ross and J. Dachsel and J. Kachergus and S. Lincoln and A. Soto-Ortolaza and S. A. Cobb and Greggory J. Wilhoite and J. Bacon and B. Behrouz and H. Melrose and E. Hentati and A. Puschmann and Daniel M. Evans and E. Conibear and W. Wasserman and J. Aasly and P. Burkhard and R. Djaldetti and J. Ghika and F. Hentati and A. Krygowska-Wajs and T. Lynch and E. Melamed and A. Rajput and A. Solida and R. Wu and R. Uitti and Z. Wszolek and F. Vingerhoets and M. Farrer},
  journal={American journal of human genetics},
  year={2011},
  volume={89 1},
  pages={
          162-7
        }
}
The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study describes the application of next-generation sequencing technologies to a Swiss kindred presenting with autosomal-dominant, late-onset Parkinson disease (PD). The family has tremor-predominant dopa-responsive parkinsonism with a mean onset of 50.6 ± 7.3 years. Exome analysis suggests that an… Expand
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