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Research Output 1999 2019

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rumping, L. , Tessadori, F. , Pouwels, P. J. W. , Vringer, E. , Wijnen, J. P. , Bhogal, A. A. , Savelberg, S. M. C. , Duran, K. J. , Bakkers, M. J. G. , Ramos, R. B. J. J. , Schellekens, P. A. W. , Kroes, H. Y. , Klomp, D. W. J. , Black, G. C. M. , Taylor, R. L. , Bakkers, J. P. W. , Prinsen, H. C. M. T. , van der Knaap, M. S. , Dansen, T. B. , Rehmann, H. & 6 others Zwartkruis, F. J. T., Houwen, R. H. J., van Haaften, G., Verhoeven-Duif, N. M., Jans, J. J. M. & van Hasselt, P. M., 2019, In : Human Molecular Genetics. 28, 1, p. 96-104

Research output: Contribution to journalArticleAcademicpeer-review

A brother and sister with intellectual disability and characteristic neuroimaging findings

Hermens, M., van der Knaap, M. S., Kamsteeg, E-J. & Willemsen, M. A., 2018, In : European Journal of Paediatric Neurology. 22, 5, p. 866-869

Research output: Contribution to journalArticleAcademicpeer-review

Adult mouse eIF2Bϵ Arg191His astrocytes display a normal integrated stress response in vitro

Wisse, L. E., ter Braak, T. J., van de Beek, M-C., van Berkel, C. G. M., Wortel, J., Heine, V. M., Proud, C. G., van der Knaap, M. S. & Abbink, T. E. M., 2018, In : Scientific Reports. 8, 1, 3773

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

A novel complex neurological phenotype due to a homozygous mutation in FDX2

Gurgel-Giannetti, J. , Lynch, D. S. , Brandão de Paiva, A. R. , Lucato, L. T. , Yamamoto, G. , Thomsen, C. , Basu, S. , Freua, F. , Giannetti, A. V. , Ripa de Assis, B. D. , Ospedale Ribeiro, M. D. , Barcelos, I. , Souza, K. S. , Monti, F. , Melo, U. S. , Amorim, S. , Silva, L. G. L. , Macedo-Souza, L. C. I. , Vianna-Morgante, A. M. , Hirano, M. & 6 others van der Knaap, M. S., Lill, R., Vainzof, M., Oldfors, A., Houlden, H. & Kok, F., 2018, In : Brain. 141, 8, p. 2289-2298

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Axonal abnormalities in vanishing white matter

Klok, M. D., Bugiani, M., de Vries, S. I., Gerritsen, W., Breur, M., van der Sluis, S., Heine, V. M., Kole, M. H. P., Baron, W. & van der Knaap, M. S., 2018, In : Annals of Clinical and Translational Neurology. 5, 4, p. 429-444

Research output: Contribution to journalArticleAcademicpeer-review

Open Access