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Isabelle Maystadt

 https://orcid.org/0000-0001-7170-8186
20192025

Research activity per year

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Education/Academic qualification

Doctor of Medicine, Genetic aspects of SMN1-unrelated autosomal recessive spinal muscular atrophies, Université Catholique de Louvain

Award Date: 22 Apr 2008

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  • CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report

    Demaret, T., Feret, D., Lambert, B., Pranger, D., Dargent, J. L., Martin Martinez, M. D., Renda, A. & Maystadt, I., 2025, In: Frontiers in Genetics. 16, 1575651.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    12 Downloads (Pure)

  • Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

    Westenberger, A., Verdura, E., Radefeldt, M., Sanderson, L. E., Tripolszki, K., Marcé-Grau, A., Cazurro-Gutiérrez, A., Nikoncuk, A., Herzog, R., Al-Ali, R., Ferreira, M., Almeida, L. S., Silveira, T. R. D., Khan, S., Maia, R. D., Klivényi, P., Salamon, A., Baltaci, V., Subasioglu, A. & Prada-Arismendy, J. & 20 others, Čuturilo, G., Loens, S., Tadic, V., Maystadt, I., Karadurmus, D., Leube, B., De Winter, J., Monticelli, A., De Waele, L., Baets, J., Vinkšel, M., Maver, A., Tschopp, L., Ziegler, G., Sanguinetti, A., Lohmann, K., Barakat, T. S., Bauer, P., Perez-Dueñas, B. & Bertoli-Avella, A. M., 7 Nov 2025, In: Movement Disorders.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    14 Downloads (Pure)

  • Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

    De Winter, J., Van de Vondel, L., Ermanoska, B., Monticelli, A., Isapof, A., Cohen, E., Stojkovic, T., Hackman, P., Johari, M., Palmio, J., Waldrop, M. A., Meyer, A. P., Nicolau, S., Flanigan, K. M., Töpf, A., Diaz-Manera, J., Straub, V., Longman, C., McWilliam, C. A. & Orbach, R. & 18 others, Verma, S., Laine, R., Donkervoort, S., Bonnemann, C. G., Rebelo, A., Züchner, S., Grider, T., Shy, M. E., Maystadt, I., Demurger, F., Cairns, A., Beecroft, S., Folland, C., De Ridder, W., Ravenscroft, G., Bonne, G., Udd, B. & Baets, J., Jun 2025, In: Genetics in Medicine. 27, 6, 101399.

    Research output: Contribution to journal › Article › peer-review

  • Natural history of adults with KBG syndrome: A physician-reported experience

    Bayat, A., Grimes, H., de Boer, E., Herlin, M. K., Dahl, R. S., Lund, I. C. B., Bayat, M., Bolund, A. C. S., Gjerulfsen, C. E., Gregersen, P. A., Zilmer, M., Juhl, S., Cebula, K., Rahikkala, E., Maystadt, I., Peron, A., Vignoli, A., Alfano, R. M., Stanzial, F. & Benedicenti, F. & 15 others, Currò, A., Luk, H. M., Jouret, G., Zurita, E., Heuft, L., Schnabel, F., Busche, A., Veenstra-Knol, H. E., Tkemaladze, T., Vrielynck, P., Lederer, D., Platzer, K., Ockeloen, C. W., Goel, H. & Low, K. J., Aug 2024, In: Genetics in Medicine. 26, 8, 101170.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    11 Downloads (Pure)

  • Prescribing sustainability: should UN sustainable development goals be part of the medical, pharmacy, and biomedical education?

    Wieërs, G., Absil, S., Maystadt, I., Nicaise, C., Modrie, P., Sibille, F. X., Melly, L. & Dogné, J.-M., 2024, In: Frontiers in Medicine. 11, 1438636.

    Research output: Contribution to journal › Article › peer-review

    Open Access
View all 10 research outputs