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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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Jansen, C, Parchi, P, Capellari, S, Verbaas, Carla, Schuur, Maaike, Strammiello, R, Corrado, P, Bishop, MT, van Gool, WA, Verbeek, MM, Baas, F, van Saane, W, Spliet, WGM, Jansen, GH, Duijn, Cornelia, Rozemuller, AJM
Veröffentlicht in: Jansen , C , Parchi , P , Capellari , S , Verbaas , C , Schuur , M , Strammiello , R , Corrado , P , Bishop , MT , van Gool , WA , Verbeek , MM , Baas , F , van Saane , W , Spliet , WGM , Jansen , GH , Duijn , C & Rozemuller , AJM 2012 , ' Human Prion Diseases in The Netherlands (1998-2009): Clinical, Genetic and Molecular Aspects ' , PLoS One (print) , vol. 7 , no. 4 . https://doi.org/10.1371/journal.pone.0036333;
2012
Veröffentlicht in: Jansen , C , Parchi , P , Capellari , S , Verbaas , C , Schuur , M , Strammiello , R , Corrado , P , Bishop , MT , van Gool , WA , Verbeek , MM , Baas , F , van Saane , W , Spliet , WGM , Jansen , GH , Duijn , C & Rozemuller , AJM 2012 , ' Human Prion Diseases in The Netherlands (1998-2009): Clinical, Genetic and Molecular Aspects ' , PLoS One (print) , vol. 7 , no. 4 . https://doi.org/10.1371/journal.pone.0036333;
2012
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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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den Heijer, JM, Cullen, VC, Quadri, Marialuisa, Schmitz, A, Hilt, DC, Lansbury, P, Berendse, HW, van de Berg, WDJ, de Bie, RMA, Boertien, JM, Boon, Agnita, Contarino, MF, van Hilten, JJ, Hoff, JI, van Mierlo, T, Munts, AG, van der Plas, AA, Ponsen, MM, Baas, F, Majoor - Krakauer, Danielle, Bonifati, Vincenzo, van de Laar, T, Groeneveld, GJ
Veröffentlicht in: den Heijer , JM , Cullen , VC , Quadri , M , Schmitz , A , Hilt , DC , Lansbury , P , Berendse , HW , van de Berg , WDJ , de Bie , RMA , Boertien , JM , Boon , A , Contarino , MF , van Hilten , JJ , Hoff , JI , van Mierlo , T , Munts , AG , van der Plas , AA , Ponsen , MM , Baas , F , Majoor - Krakauer , D , Bonifati , V , van de Laar , T & Groeneveld , GJ 2020 , ' A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands ' , Movement Disorders , vol. 35 , no. 9 , pp. 1667-1674 . https://doi.org/10.1002/mds.28112;
2020
Veröffentlicht in: den Heijer , JM , Cullen , VC , Quadri , M , Schmitz , A , Hilt , DC , Lansbury , P , Berendse , HW , van de Berg , WDJ , de Bie , RMA , Boertien , JM , Boon , A , Contarino , MF , van Hilten , JJ , Hoff , JI , van Mierlo , T , Munts , AG , van der Plas , AA , Ponsen , MM , Baas , F , Majoor - Krakauer , D , Bonifati , V , van de Laar , T & Groeneveld , GJ 2020 , ' A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands ' , Movement Disorders , vol. 35 , no. 9 , pp. 1667-1674 . https://doi.org/10.1002/mds.28112;
2020
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Jansen, C. (Casper), Parchi, P. (Piero), Capellari, S. (Sabina), Ibrahim-Verbaas, C.A. (Carla), Schuur, M. (Maaike), Strammiello, R. (Rosario), Corrado, P. (Patrizia), Bishop, M.T. (Matthew), Gool, W.A. (Willem) van, Verbeek, M.M. (Marcel), Baas, F. (Frank), Saane, W. (Wesley) van, Spliet, W.G.M. (Wim), Jansen, G.H. (Gerard), Duijn, C.M. (Cornelia) van, Rozemuller, A.J.M. (Annemieke)
2012
2012