1. 2020
  2. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Ebrahimi-Fakhari, D., Teinert, J., Behne, R., Wimmer, M., D'Amore, A., Eberhardt, K., Brechmann, B., Ziegler, M., Jensen, D. M., Nagabhyrava, P., Geisel, G., Carmody, E., Shamshad, U., Dies, K. A., Yuskaitis, C. J., Salussolia, C. L., Ebrahimi-Fakhari, D., Pearson, T. S., Saffari, A., Ziegler, A. & 68 others, Kölker, S., Volkmann, J., Wiesener, A., Bearden, D. R., Lakhani, S., Segal, D., Udwadia-Hegde, A., Martinuzzi, A., Hirst, J., Perlman, S., Takiyama, Y., Xiromerisiou, G., Vill, K., Walker, W. O., Shukla, A., Dubey Gupta, R., Dahl, N., Aksoy, A., Verhelst, H., Delgado, M. R., Kremlikova Pourova, R., Sadek, A. A., Elkhateeb, N. M., Blumkin, L., Brea-Fernández, A. J., Dacruz-Álvarez, D., Smol, T., Ghoumid, J., Miguel, D., Heine, C., Schlump, J-U., Langen, H., Baets, J., Bulk, S., Darvish, H., Bakhtiari, S., Kruer, M. C., Lim-Melia, E., Aydinli, N., Alanay, Y., El-Rashidy, O., Nampoothiri, S., Patel, C., Beetz, C., Bauer, P., Yoon, G., Guillot, M., Miller, S. P., Bourinaris, T., Houlden, H., Robelin, L., Anheim, M., Alamri, A. S., Mahmoud, A. A. H., Inaloo, S., Habibzadeh, P., Faghihi, M. A., Jansen, A. C., Brock, S., Roubertie, A., Darras, B. T., Agrawal, P. B., Santorelli, F. M., Gleeson, J., Zaki, M. S., Sheikh, S. I., Bennett, J. T. & Sahin, M., 26 Sep 2020, In : Brain.

    Research output: Contribution to journalArticle

  3. International consensus recommendations on the diagnostic work-up for malformations of cortical development

    Oegema, R., Barakat, T. S., Wilke, M., Stouffs, K., Amrom, D., Aronica, E., Bahi-Buisson, N., Conti, V., Fry, A. E., Geis, T., Andres, D. G., Parrini, E., Pogledic, I., Said, E., Soler, D., Valor, L. M., Zaki, M. S., Mirzaa, G., Dobyns, W. B., Reiner, O. & 7 others, Guerrini, R., Pilz, D. T., Hehr, U., Leventer, R. J., Jansen, A. C., Mancini, G. M. S. & Di Donato, N., 7 Sep 2020, In : Nature Reviews. Neurology.

    Research output: Contribution to journalArticle

  4. Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

    TOSCA Consortium and TOSCA Investigators, de Vries, P. J., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., D'Amato, L., Beure d'Augères, G., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Marques, R., Nabbout, R., O'Callaghan, F., Qin, J. & 9 others, Sander, V., Sauter, M., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B., Kingswood, J. C. & Jansen, A. C., 1 Sep 2020, In : Journal of neurodevelopmental disorders. 12, 1, 24.

    Research output: Contribution to journalArticle

  5. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

    EPISTOP Consortium members, Sep 2020, In : Genetics in Medicine : Official Journal of the American College of Medical Genetics. 22, 9, p. 1489-1497 9 p.

    Research output: Contribution to journalArticle

  6. 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

  7. Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

    TOSCA Investigators, 7 Jul 2020, In : Frontiers in Neurology. 11, 603.

    Research output: Contribution to journalArticle

  8. 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

  9. 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

  10. 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

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