1. 2019
  2. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

    Vandervore, L. V., Schot, R., Milanese, C., Smits, D. J., Kasteleijn, E., Fry, A. E., Pilz, D. T., Brock, S., Börklü-Yücel, E., Post, M., Bahi-Buisson, N., Sánchez-Soler, M. J., van Slegtenhorst, M., Keren, B., Afenjar, A., Coury, S. A., Tan, W-H., Oegema, R., de Vries, L. S., Fawcett, K. A. & 29 others, Nikkels, P. G. J., Bertoli-Avella, A., Al Hashem, A., Alwabel, A. A., Tlili-Graiess, K., Efthymiou, S., Zafar, F., Rana, N., Bibi, F., Houlden, H., Maroofian, R., Person, R. E., Crunk, A., Savatt, J. M., Turner, L., Doosti, M., Karimiani, E. G., Saadi, N. W., Akhondian, J., Lequin, M. H., Kayserili, H., van der Spek, P. J., Jansen, A. C., Kros, J. M., Verdijk, R. M., Milošević, N. J., Fornerod, M., Mastroberardino, P. G. & Mancini, G. M. S., 5 Dec 2019, In : American Journal of Human Genetics. 105, 6, p. 1126-1147 22 p.

    Research output: Contribution to journalArticle

  3. The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases

    Marques, R., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M., D'Amato, L., Beaure d'Augères, G., de Vries, P. J., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jansen, A. C., Jozwiak, S., Kingswood, J. C., Lawson, J. A., Macaya, A., O'Callaghan, F. & 9 others, Qin, J., Sander, V., Sauter, M., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B. & Nabbout, R., 13 Nov 2019, In : Frontiers in Neurology. 10, 1182.

    Research output: Contribution to journalArticle

  4. Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

    Marques, R., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M., D'Amato, L., Beaure d'Augères, G., de Vries, P. J., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., 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., 25 Oct 2019, In : Frontiers in Neurology. 10, 1144.

    Research output: Contribution to journalArticle

  5. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., Divizia, M. T., Striano, P., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A., Bauer, P. & 32 others, Demmers, J., Verheijen, F. W., Wilke, M., van Slegtenhorst, M., van der Spek, P. J., Seri, M., Jansen, A. C., Stottmann, R. W., Hufnagel, R. B., Hopkin, R. J., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Laure-Kamionowska, M., Alkuraya, F. S., Akleh, H., Stanley, V., Musaev, D., Gleeson, J. G., Zaki, M. S., Brunetti-Pierri, N., Cappuccio, G., Davidov, B., Basel-Salmon, L., Bazak, L., Shahar, N. R., Bertoli-Avella, A., Mirzaa, G. M., Dobyns, W. B., Pippucci, T., Fornerod, M. & Mancini, G. M. S., 3 Oct 2019, In : American Journal of Human Genetics. 105, 4, p. 689-705 17 p.

    Research output: Contribution to journalArticle

  6. EP08.24: Malformations of cortical development: from prenatal diagnosis to postnatal outcome

    Garofalo, G., Marangoni, M., Jansen, A., Stouffs, K., Désir, J. & Cassart, M., Oct 2019, In : Ultrasound in Obstetrics and Gynecology. 54, S1, p. 284-284 1 p.

    Research output: Contribution to journalMeeting abstract (Journal)

  7. Correction: The landscape of epilepsy-related GATOR1 variants

    Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 68 others, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E. H., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M-L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A-S., Jennesson, M., Sattar, S., Marchal, C., NordliJr, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A-S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., Aug 2019, In : Genetics in Medicine : Official Journal of the American College of Medical Genetics. 21, 8, 1896.

    Research output: Contribution to journalComment/debate

  8. A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease

    Vanbinst, A. M., Brussaard, C., Vergauwen, E., Van Velthoven, V., Kuijpers, R., Michel, O., Foulon, I., Jansen, A. C., Lefevere, B., Bohler, S., Keymolen, K., De Mey, J., Michielsen, D., Andreescu, C. E. & Gläsker, S., 29 Jul 2019, In : Hereditary Cancer in Clinical Practice. 17, 1, 6 p., 22.

    Research output: Contribution to journalArticle

  9. Correction to: The landscape of epilepsy-related GATOR1 variants

    Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Martin, A. D. S., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 68 others, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F., Braun, K., Jong, D. D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M-L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A-S., Jennesson, M., Sattar, S., Marchal, C., NordliJr, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A-S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. D., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., Jul 2019, In : Genetics in Medicine. 21, 7, p. 1671 1 p.

    Research output: Contribution to journalComment/debate

  10. Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

    Moavero, R., Benvenuto, A., Emberti Gialloreti, L., Siracusano, M., Kotulska, K., Weschke, B., Riney, K., Jansen, F. E., Feucht, M., Krsek, P., Nabbout, R., Jansen, A. C., Wojdan, K., Borkowska, J., Sadowski, K., Hertzberg, C., Hulshof, H., Samueli, S., Benova, B., Aronica, E. & 4 others, Kwiatkowski, D. J., Lagae, L., Jozwiak, S. & Curatolo, P., 3 Jun 2019, In : Journal of Clinical Medicine. 8, 6, 17 p., 788.

    Research output: Contribution to journalArticle

  11. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics (vol 142, pg 867, 2019)

    Vandervore, L. V., Schot, R., Kasteleijn, E., Oegema, R., Stouffs, K., Gheldof, A., Grochowska, M. M., van der Sterre, M. L. T., van Unen, L. M. A., Wilke, M., Elfferich, P., van der Spek, P. J., Heijsman, D., Grandone, A., Demmers, J. A. A., Dekkers, D. H. W., Slotman, J. A., Kremers, G-J., Schaaf, G. J., Masius, R. G. & 12 others, van Essen, A. J., Rump, P., van Haeringen, A., Peeters, E., Altunoglu, U., Kalayci, T., Poot, R. A., Dobyns, W. B., Bahi-Buisson, N., Verheijen, F. W., Jansen, A. C. & Mancini, G. M. S., Jun 2019, In : Brain. 142, p. 867-867

    Research output: Contribution to journalArticle

Previous 1 2 3 4 5 6 7 8 ...20 Next

ID: 79216