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Jansen, C., Voet, W., Head, M.W., Parchi, P., Yull, H., Verrips, A., Wesseling, P., Meulstee, J., Baas, F., van Gool, W.A., Ironside, J.W., Rozemuller, A.J.
Veröffentlicht in: Jansen , C , Voet , W , Head , M W , Parchi , P , Yull , H , Verrips , A , Wesseling , P , Meulstee , J , Baas , F , van Gool , W A , Ironside , J W & Rozemuller , A J 2011 , ' A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature. ' , Acta Neuropathologica , vol. 121 , no. 1 , pp. 59-68 . https://doi.org/10.1007/s00401-010-0656-3;
2011
Veröffentlicht in: Jansen , C , Voet , W , Head , M W , Parchi , P , Yull , H , Verrips , A , Wesseling , P , Meulstee , J , Baas , F , van Gool , W A , Ironside , J W & Rozemuller , A J 2011 , ' A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature. ' , Acta Neuropathologica , vol. 121 , no. 1 , pp. 59-68 . https://doi.org/10.1007/s00401-010-0656-3;
2011
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Tan-Sindhunata, M.B., Matthijssen, I.B., Smit, M., Baas, F., de Vries, J.I.P., van der Voorn, J.P., Kluijt, I., Hagen, M.A., Blom, E.W., Sistermans, E.A., Heijboer-Meijers, J.E., Waisfisz, Q., Weiss, M.M., Groffen, A.J.A.
Veröffentlicht in: Tan-Sindhunata , M B , Matthijssen , I B , Smit , M , Baas , F , de Vries , J I P , van der Voorn , J P , Kluijt , I , Hagen , M A , Blom , E W , Sistermans , E A , Heijboer-Meijers , J E , Waisfisz , Q , Weiss , M M & Groffen , A J A 2015 , ' Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. ' , European Journal of Human Genetics , vol. 23 , no. 9 , pp. 1151-1157 . https://doi.org/10.1038/ejhg.2014.273;
2015
Veröffentlicht in: Tan-Sindhunata , M B , Matthijssen , I B , Smit , M , Baas , F , de Vries , J I P , van der Voorn , J P , Kluijt , I , Hagen , M A , Blom , E W , Sistermans , E A , Heijboer-Meijers , J E , Waisfisz , Q , Weiss , M M & Groffen , A J A 2015 , ' Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. ' , European Journal of Human Genetics , vol. 23 , no. 9 , pp. 1151-1157 . https://doi.org/10.1038/ejhg.2014.273;
2015
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Jansen, C., Parchi, P., Capellari, S., Ibrahim-Verbaas, C.A., Schuur, M., Strammiello, R., Corrado, P., Bishop, M.T., van Gool, W.A., Verbeek, M.M., Baas, F., van Saane, W., Spliet, W.G.M., Jansen, G.H., van Duijn, C.M., Rozemuller, A.J.M.
Veröffentlicht in: Jansen , C , Parchi , P , Capellari , S , Ibrahim-Verbaas , C A , Schuur , M , Strammiello , R , Corrado , P , Bishop , M T , van Gool , W A , Verbeek , M M , Baas , F , van Saane , W , Spliet , W G M , Jansen , G H , van Duijn , C M & Rozemuller , A J M 2012 , ' Human Prion Diseases in The Netherlands (1998-2009): Clinical, Genetic and Molecular Aspects ' , PLoS ONE , vol. 7 , no. 4 , e36333 , pp. e36333 . https://doi.org/10.1371/journal.pone.0036333;
2012
Veröffentlicht in: Jansen , C , Parchi , P , Capellari , S , Ibrahim-Verbaas , C A , Schuur , M , Strammiello , R , Corrado , P , Bishop , M T , van Gool , W A , Verbeek , M M , Baas , F , van Saane , W , Spliet , W G M , Jansen , G H , van Duijn , C M & Rozemuller , A J M 2012 , ' Human Prion Diseases in The Netherlands (1998-2009): Clinical, Genetic and Molecular Aspects ' , PLoS ONE , vol. 7 , no. 4 , e36333 , pp. e36333 . https://doi.org/10.1371/journal.pone.0036333;
2012