20042021

Research activity per year

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  • Biallelic PI4KA variants cause neurological, intestinal and immunological disease

    Salter, C. G., Cai, Y., Lo, B., Helman, G., Taylor, H., McCartney, A., Leslie, J. S., Accogoli, A., Zara, F., Traverso, M., Fasham, J., Lees, J. A., Ferla, M., Chioza, B. A., Wenger, O., Scott, E., Cross, H. E., Crawford, J., Warshawsky, I., Keisling, M. & 25 others, Agamanolis, D., Melver, C. W., Cox, H., Elawad, M., Marton, T., Wakeling, M., Holzinger, D., Tippelt, S., Munteanu, M., Valcheva, D., Deal, C., Van Meerbeke, S., Vockley, C. W., Butte, M. J., Acar, U., van der Knaap, M. S., Korenke, G. C., Kotzaeridou, U., Balla, T., Simons, C., Uhlig, H. H., Crosby, A. H., De Camilli, P., Wolf, N. I. & Baple, E. L., 20 Aug 2021, (E-pub ahead of print) In: Brain.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series

    van Geest, F. S., Meima, M. E., Stuurman, K. E., Wolf, N. I., van der Knaap, M. S., Lorea, C. F., Poswar, F. O., Vairo, F., Brunetti-Pierri, N., Cappuccio, G., Bakhtiani, P., de Munnik, S. A., Peeters, R. P., Visser, W. E. & Groeneweg, S., 1 Feb 2021, In: The Journal of clinical endocrinology and metabolism. 106, 2, p. 539-553 15 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

    Djordjevic, D., Pinard, M., Gauthier, M. S., Smith-Hicks, C., Hoffman, T. L., Wolf, N. I., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B. & Yoon, G., 7 Jan 2021, In: American journal of human genetics. 108, 1, p. 186-193 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M. & 99 others, Sébire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., de Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G., Polychronakos, C., Wolf, N. I. & Bernard, G., 1 Feb 2021, In: The Journal of clinical endocrinology and metabolism. 106, 2, p. e660-e674

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

    Al-Saady, M. L., Kaiser, C. S., Wakasuqui, F., Korenke, G. C., Waisfisz, Q., Polstra, A., Pouwels, P. J. W., Bugiani, M., van der Knaap, M. S., Lunsing, R. J., Liebau, E. & Wolf, N. I., 1 Dec 2021, In: Neuropediatrics. 52, 6, p. 489-494 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review