Results:

Publishable Executive Summary

Three main impacts of MarkMD for deCODE and Uni Tuebingen

• Establishment of a lasting collaboration that is continued eg in the NeurOmics project (www.rd-neuromics.eu)
• Knowledge transfer with regard to genetic and clinical markers of Parkinson’s disease and Essential Temor
• Peer review publications stemming from the project

Publications:

Holmans, P., et al.,

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

Hum Mol Genet, 2012.

Keller, M.F., et al.,

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.

Hum Mol Genet, 2012. 21(22): p. 4996-5009.

Lill, C.M., et al.,

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

PLoS Genet, 2012. 8(3): p. e1002548.

Nalls, M.A., et al.,

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.

Lancet, 2011. 377(9766): p. 641-9.

Jonsson, T., et al.,

A mutation in APP protects against Alzheimer's disease and age-related cognitive decline.

Nature, 2012. 488(7409): p. 96-9.

Jonsson, T., et al.,

Variant of TREM2 associated with the risk of Alzheimer's disease.

N Engl J Med, 2013. 368(2): p. 107-16.

Petursson, H.,

LINGO1 and clinical characteristics of essential tremor.

Masters theses, University of Iceland, 2012.

Holmans, P., et al.,

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

Hum Mol Genet, 2ol.

Stefansson, H., et al.,

Variant in the sequence of the LINGO1 gene confers risk of essential tremor.

Nat Genet, 2009. 41(3): p. 277-9.

Srulijes K et al.

Fluorodeoxyglucose positron emission tomography in Richardson’s syndrome and progressive supranuclear palsy-parkinsonism.

Mov Disord. 2012 Jan;27(1):151-5.

Liscic RM et al.

Differentiation of Progressive Supranuclear Palsy: clinical, imaging and laboratory tools.

Acta Neurol Scand. 2013 May;127(5):362-70.

International Parkinson's Disease Genomics Consortium (IPDGC);
Wellcome Trust Case Control Consortium 2 (WTCCC2).

A two-stage meta-analysis identifies several new loci for Parkinson's disease.

PLoS Genet. 2011 Jun;7(6):e1002142. Epub 2011 Jun 30.

Organisation of meetings:

(1)

Kick off meeting in Tübingen 7 April 2009

(2)

In June 2010 Tubingen organized a European ET meeting where several groups from all over Europe were invited. Through this effort, collaboration with a group from Kiel was initiated. Kiel has already genotyped a large sample of ET patients and controls. Tubingen and Kiel will combine their samples, cases and controls for increasing power in their analysis.

(-)

The annual f2f meeting in Reykjavik had to be changed into a telephone conference due to the volcanic ashes disrupting the air travel at that time.

(3)

Organisation of review meeting on 28 February 2011 in Frankfurt, Germany.

(4)

Coordination and planning meeting in June and July 2010 in Tubingen during the secondment of H. Stefansson to Tubingen.

(5)

Coordination and planning meeting in July and August 2011 in Reykjavik during the secondment of H. Graessner and P. Bauer to deCODE.