prof. dr. MS van der Knaap

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Personal profile

Ancillary activities

  • Stichting voor Kinderen met Witte Stof Aandoeningen | Amsterdam | Voorzitter | 2011-01-01 - present
  • Calico | San Francisco | Adviseur | 2021-04-01 - 2022-04-01

Ancillary activities are updated daily

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  • Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

    Telethon Undiagnosed Diseases Program, Jun 2021, In: Human Mutation. 42, 6, p. 745-761 17 p.

    Research output: Contribution to JournalArticleAcademicpeer-review

    Open Access
  • 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
  • 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
  • Expanded phenotype of AARS1-related white matter disease

    Helman, G., Mendes, M. I., Nicita, F., Darbelli, L., Sherbini, O., Moore, T., Derksen, A., Amy Pizzino, P., Carrozzo, R., Torraco, A., Catteruccia, M., Aiello, C., Goffrini, P., Figuccia, S., Smith, D. E. C., Hadzsiev, K., Hahn, A., Biskup, S., Brösse, I., Kotzaeridou, U. & 17 others, Gauck, D., Grebe, T. A., Elmslie, F., Stals, K., Gupta, R., Bertini, E., Thiffault, I., Taft, R. J., Schiffmann, R., Brandl, U., Haack, T. B., Salomons, G. S., Simons, C., Bernard, G., van der Knaap, M. S., Vanderver, A. & Husain, R. A., Dec 2021, In: Genetics in Medicine. 23, 12, p. 2352-2359 8 p.

    Research output: Contribution to JournalArticleAcademicpeer-review

  • Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

    Stutterd, C. A., Kidd, A., Florkowski, C., Janus, E., Fanjul, M., Raizis, A., Wu, T. Y., Archer, J., Leventer, R. J., Amor, D. J., Lukic, V., Bahlo, M., Gow, P., Lockhart, P. J., van der Knaap, M. S. & Delatycki, M. B., Oct 2021, In: American Journal of Medical Genetics, Part A. 185, 10, p. 2941-2950 10 p.

    Research output: Contribution to JournalArticleAcademicpeer-review