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Articles by R. A Wevers (3)

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

W. G Leen, J Klepper, M. M Verbeek, M Leferink, T Hofste, B. G van Engelen, R. A Wevers, T Arthur, N Bahi Buisson, D Ballhausen, J Bekhof, P van Bogaert, I Carrilho, B Chabrol, M. P Champion, J Coldwell, P Clayton, E Donner, A Evangeliou, F Ebinger, K Farrell, R. J Forsyth, C. G. E. L de Goede, S Gross, S Grunewald, H Holthausen, S Jayawant, K Lachlan, V Laugel, K Leppig, M. J Lim, G Mancini, A. D Marina, L Martorell, J McMenamin, M. E. C Meuwissen, H Mundy, N. O Nilsson, A Panzer, B. T Poll The, C Rauscher, C. M. R Rouselle, I Sandvig, T Scheffner, E Sheridan, N Simpson, P Sykora, R Tomlinson, J Trounce, D Webb, B Weschke, H Scheffer and M. A. Willemsen

Brain 133 ( 3 ): 655 - 670 , 2010

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

E Morava, R. A Wevers, V Cantagrel, L. H Hoefsloot, L Al Gazali, J Schoots, A van Rooij, K Huijben, C. M. A van Ravenswaaij Arts, M. C. J Jongmans, J Sykut Cegielska, G. F Hoffmann, P Bluemel, M Adamowicz, J van Reeuwijk, B. G Ng, J. E. H Bergman, H van Bokhoven, C Korner, D Babovic Vuksanovic, M. A Willemsen, J. G Gleeson, L Lehle, A. P. M de Brouwer and D. J. Lefeber

Brain 133 ( 11 ): 3210 - 3220 , 2010

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

V Hucthagowder, E Morava, U Kornak, D. J Lefeber, B Fischer, A Dimopoulou, A Aldinger, J Choi, E. C Davis, D. N Abuelo, M Adamowicz, J Al Aama, L Basel Vanagaite, B Fernandez, M. T Greally, G Gillessen Kaesbach, H Kayserili, E Lemyre, M Tekin, S Turkmen, B Tuysuz, B Yuksel Konuk, S Mundlos, L Van Maldergem, R. A Wevers and Z. Urban

Human Molecular Genetics 18 ( 12 ): 2149 - 2165 , 2009