1. 2020
  2. SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

    Zaman, T., Helbig, K. L., Clatot, J., Thompson, C. H., Kang, S. K., Stouffs, K., Jansen, A. E., Verstraete, L., Jacquinet, A., Parrini, E., Guerrini, R., Fujiwara, Y., Miyatake, S., Ben-Zeev, B., Bassan, H., Reish, O., Marom, D., Hauser, N., Vu, T-A., Ackermann, S. & 16 others, Spencer, C. E., Lippa, N., Srinivasan, S., Charzewska, A., Hoffman-Zacharska, D., Fitzpatrick, D., Harrison, V., Vasudevan, P., Joss, S., Pilz, D. T., Fawcett, K. A., Helbig, I., Matsumoto, N., Kearney, J. A., Fry, A. E. & Goldberg, E. M., 1 Aug 2020, In : Annals of Neurology. 88, 2, p. 348-362 15 p.

    Research output: Contribution to journalArticle

  3. Defining the phenotypical spectrum associated with variants in TUBB2A

    Brock, S., Vanderhasselt, T., Vermaning, S., Keymolen, K., Régal, L., Romaniello, R., Wieczorek, D., Storm, T. M., Schaeferhoff, K., Hehr, U., Kuechler, A., Krägeloh-Mann, I., Haack, T. B., Kasteleijn, E., Schot, R., Mancini, G. M. S., Webster, R., Mohammad, S., Leventer, R. J., Mirzaa, G. & 5 others, Dobyns, W. B., Bahi-Buisson, N., Meuwissen, M., Jansen, A. C. & Stouffs, K., 22 Jun 2020, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  4. Multinodular and vacuolating neuronal tumor of the cerebrum (MVNT): do not touch

    De Wandeler, T., De Brucker, Y., Jansen, A. & Vanderhasselt, T., Jun 2020, In : Acta Neurologica Belgica. 120, 3, p. 747-748 2 p.

    Research output: Contribution to journalArticle

  5. Pregabalin adjunctive therapy for focal onset seizures in children 1 month to <4 years of age: A double-blind, placebo-controlled, video-electroencephalographic trial

    A0081042 study group, Mann, D., Antinew, J., Knapp, L., Almas, M., Liu, J., Scavone, J., Yang, R., Modequillo, M., Makedonska, I., Ortiz, M., Kyrychenko, A., Nordli, D., Farkas, V. & Farkas, M. K., Apr 2020, In : Epilepsia. 61, 4, p. 617-626 10 p.

    Research output: Contribution to journalArticle

  6. The association of CTDP1 mutation with malformations of cortical development

    Yildirim, H., Kerkhove, L., Dimitrov, B., Cannaerts, E., Sermon, K., Stouffs, K. & Jansen, A., 6 Mar 2020.

    Research output: Unpublished contribution to conferencePoster

  7. The involvement of MAN2C1 in the development of cortical malformations

    Kerkhove, L., Yildirim, H., Seneca, S., Gheldof, A., Dumitriu, D., Sermon, K., Jansen, A., Nassogne, M-C. & Stouffs, K., 6 Mar 2020.

    Research output: Unpublished contribution to conferencePoster

  8. Unraveling the molecular etiology of Pompe disease using RNA sequencing

    Vo Ngoc, D. T. L., Franck, S., Seneca, S., Stouffs, K., De Dobbeleer, G., Jansen, A., Regal, L., Jonckheere, A., Sermon, K. & Gheldof, A., 6 Mar 2020, (Unpublished).

    Research output: Unpublished contribution to conferencePoster

  9. Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study

    TSC Natural History Database Consortium, Gupta, A., de Bruyn, G., Tousseyn, S., Krishnan, B., Lagae, L. & Agarwal, N., 2020, In : Pediatric Neurology. 106, p. 10-16 7 p.

    Research output: Contribution to journalArticle

  10. Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

    Stouffs, K., Verloo, P., Brock, S., Regal, L., Beysen, D., Ceulemans, B., Jansen, A. & Meuwissen, M., 2020, In : Frontiers in Genetics. 11, 5 p., 26.

    Research output: Contribution to journalArticle

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