Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective

por Schoenaker, M. H. D., Blom, M., de Vries, M. C., Weemaes, C. M. R., van der Burg, M., Willemsen, M. A. A. P.
Publicado 2019

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

por Dekker, M. C. J., Sadiq, A. M., Mc Larty, R., Mbwasi, R. M., Willemsen, M. A. A. P., Waterham, H. R., Hamel, B. C.
Publicado 2019

Facilitators and Barriers to Wearing Hand Orthoses by Adults with Duchenne Muscular Dystrophy: A Mixed Methods Study Design

por Houwen-van Opstal, S.L.S., van den Elzen, Y.M.E.M., Jansen, M., Willemsen, M.A.A.P., Cup, E.H.C., De Groot, I.J.M.
Publicado 2020

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes

por Tseng, L.A., Teela, L., Janssen, M.C., Bok, L.A., Willemsen, M.A.A.P., Neuteboom, R.F., Haverman, L., Gospe, S.M., Coughlin, C.R., van Karnebeek, C.D.M.
Publicado 2022

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

por Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J., Smeitink, J. A. M.
Publicado 2012

Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study

por Ketelslegers, I. A., Catsman-Berrevoets, C. E., Neuteboom, R. F., Boon, M., van Dijk, K. G. J., Eikelenboom, M. J., Gooskens, R. H. J. M., Niks, E. H., Overweg-Plandsoen, W. C. G., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., de Rijk-van Andel, J. F., Samijn, J. P. A., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Vles, J. S. H., Willemsen, M. A. A. P., Rodrigues Pereira, R., Hintzen, R. Q.
Publicado 2012

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study

por de Mol, C. L., Wong, Y. Y. M., van Pelt, E. D., Ketelslegers, I. A., Bakker, D. P., Boon, M., Braun, K. P. J., van Dijk, K. G. J., Eikelenboom, M. J., Engelen, M., Geleijns, K., Haaxma, C. A., Niermeijer, J. M. F., Niks, E. H., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., Portier, R. P., de Rijk-van Andel, J. F., Samijn, J. P. A., Schippers, H. M., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Visscher, F., Vles, J. S. H., Willemsen, M. A. A. P., Catsman-Berrevoets, C. E., Hintzen, R. Q., Neuteboom, R. F.
Publicado 2018