20042021

Research activity per year

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  • 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., 23 Jan 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

  • 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., 23 Jan 2021, In: The Journal of clinical endocrinology and metabolism. 106, 2, p. e660-e674

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Hypomyelinating leukodystrophies — unravelling myelin biology

    Wolf, N. I., ffrench-Constant, C. & van der Knaap, M. S., Feb 2021, In: Nature Reviews Neurology. 17, 2, 16 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  • The European Reference Network for Rare Neurological Diseases

    Reinhard, C., Bachoud-Lévi, A-C., Bäumer, T., Bertini, E., Brunelle, A., Buizer, A. I., Federico, A., Gasser, T., Groeschel, S., Hermanns, S., Klockgether, T., Krägeloh-Mann, I., Landwehrmeyer, G. B., Leber, I., Macaya, A., Mariotti, C., Meissner, W. G., Molnar, M. J., Nonnekes, J., Ortigoza Escobar, J. D. & 9 others, Pérez Dueñas, B., Renna Linton, L., Schöls, L., Schuele, R., Tijssen, M. A. J., Vandenberghe, R., Volkmer, A., Wolf, N. I. & Graessner, H., 14 Jan 2021, In: Frontiers in Neurology. 11, p. 616569 616569.

    Research output: Contribution to journalReview articleAcademicpeer-review

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