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dr. Merel Mol

 https://orcid.org/0000-0003-2533-2530

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  • 33 Article
  • 2 Review article
  • 1 Comment/Letter to the editor
  • 1 Doctoral Thesis

  • ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes

    Bandi, V., Venema, M., Wallace, I., Mol, M. O., Nikoncuk, A., Schot, R., van Slegtenhorst, M., Bijlsma, E. K., Khan, A., White, S. M., Rius, R., Delatycki, M. B., Narayanan, V., Swatek, K. N., Barakat, T. S. & Bustos, F., 15 May 2026, In: iScience. 29, 5, 115454.

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

    Open Access
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    10 Downloads (Pure)

  • A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

    De Coster, W., Van den Broeck, M., Baker, M., Ghayal, N. B., Wynants, S., Batzler, A., Pottier, C., Alidadiani, S., Küçükali, F., Jenkins, G. D., Policarpo, R., van Blitterswijk, M., DeJesus-Hernandez, M., Soto-Beasley, A. I., Faura, J., Coopman, E., Hutten, S., Mol, M. O., Wallon, D. & Sieben, A. & 103 others, Finger, E. C., Murray, M. E., Forrest, S. L., Tartaglia, M. C., Troakes, C., van Rooij, J. G. J., Nguyen, A. T., Reichard, R. R., Woodman, N. L., Nana, A. L., Weintraub, S., Gefen, T., De Vil, B., Bodi, I., Lopez, O. L., Boluda, S., Belliard, S., Lebert, F., Marguet, F., Mao, Q., Mesulam, M. M., Boxer, A. L., Vandenbulcke, M., Suh, E. R., Schaeverbeke, J., Lambert, J. C., Scholz, S. W., Dalgard, C. L., Traynor, B. J., Gibbs, R. J., Schellenberg, G. D., Dormann, D., Joris, G., De Pooter, T., De Rijk, P., D’Hert, S., Van Dongen, J., van der Zee, J., Strazisar, M., Gearing, M., Kukar, T., Flanagan, M., Engelborghs, S., Ghetti, B., Newell, K. L., King, A., Roeber, S., Rosen, H. J., Spina, S., Cras, P., Ertekin-Taner, N., Wszolek, Z. K., Uitti, R. J., Cheshire, W. P., Singer, W., Herms, J., Josephs, K. A., Whitwell, J. L., Petersen, R. C., Pasquier, F., Nicolas, G., Castellani, R., Glass, J., Miller, B. L., Kovacs, G. G., Rissman, R. A., Hiniker, A., Deramecourt, V., Ang, L. C., Lee-Way, J., Van Deerlin, V. M., Dugger, B. N., Thal, D. R., Grinberg, L. T., Cruchaga, C., Arzberger, T., Munoz, D. G., Keith, J., Zinman, L., Rogaeva, E., Lee, E. B., Haggarty, S. J., Ansorge, O., Husain, M., Halliday, G. M., Al-Sarraj, S., Ross, O. A., Sleegers, K., Vandenberghe, R., Boeve, B. F., Graff-Radford, N. R., Kofler, J., White, C. L., Lashley, T., Neumann, M., Biernacka, J. M., Seeley, W. W., Seelaar, H., van Swieten, J. C., Rohrer, J. D., Dickson, D. W., Mackenzie, I. R. A. & Rademakers, R., Apr 2026, In: Nature Genetics. 58, 4, p. 726-736 11 p.

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

    Open Access
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    4 Downloads (Pure)

  • Transcriptomic signature of frontotemporal lobar degeneration with TDP-43 type C pathology

    Rajicic, A., Mol, M. O., Melhem, S., Kisic, H., van Swieten, J. C., Seelaar, H. & van Rooij, J. G. J., 6 Mar 2026, In: Brain : a journal of neurology.

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

    Open Access
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    28 Downloads (Pure)

  • Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

    Smits, D. J., Ferraro, F., Drost, M., van der Linde, H. C., de Graaf, B. M., van Bever, Y., Brooks, A. S., Bardina, L., Brüggenwirth, H. T., Debuy, C., Donker Kaat, L., van Dijk, B. T., van Engelen, N., Geeven, G., van de Graaf, R., van Haaften-Visser, D. Y., van Hasselt, P. M., Heijsman, D., Hendriks, Y. M. C. & Hitti-Malin, R. J. & 25 others, Hoefsloot, L. H., Huijbregts, G., IJspeert, H., Lamballais, S., Mijalkovic, J., Mol, M. O., Nawawi, D., Nederpelt, N., Nibbeling, E. A. R., Te Rijdt, W., Schot, R., van Slegtenhorst, M., Sleutels, F., Ulenkate, E. L. M., Van Veghel-Plandsoen, M., Verhagen, J. M. A., Vos, D., Wauters, E., Wilke, M., Sylva, M., Barakat, T. S., van Ham, T. J., Kleefstra, T., Rots, D. & Verhoeven, V. J. M., Jan 2026, In: European journal of human genetics : EJHG. 34, 1, p. 108-118 11 p.

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

    Open Access
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    4 Citations (Scopus)
    36 Downloads (Pure)

  • Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease

    Andersen, O. M., de Waal, M. W. J., Monti, G., Tesi, N., Jensen, A. M. G., de Geus, C., van Spaendonk, R., Vogel, M., Ahmad, S., Amin, N., Amouyel, P., Beecham, G. W., Bellenguez, C., Berr, C., Bis, J. C., Boland, A., Bossù, P., Bouwman, F., Bras, J. & Charbonnier, C. & 86 others, Clarimon, J., Cruchaga, C., Daniele, A., Dartigues, J. F., Debette, S., Deleuze, J. F., Denning, N., DeStefano, A. L., Dols-Icardo, O., van Duijn, C. M., Farrer, L. A., Fernández, M. V., van der Flier, W. M., Fox, N. C., Galimberti, D., Genin, E., Gille, J. J. P., Grenier-Boley, B., Grozeva, D., Guen, Y. L., Guerreiro, R., Haines, J. L., Holmes, C., Hummerich, H., Arfan Ikram, M., Kamran Ikram, M., Kawalia, A., Kraaij, R., Lambert, J. C., Lathrop, M., Lemstra, A. W., Lleó, A., Myers, R. M., Mannens, M. M. A. M., Marshall, R., Martin, E. R., Masullo, C., Mayeux, R., Mead, S., Mecocci, P., Meggy, A., Mol, M. O., Nacmias, B., Naj, A. C., Napolioni, V., Nicholas Cochran, J., Nicolas, G., Pasquier, F., Pastor, P., Pericak-Vance, M. A., Pijnenburg, Y. A. L., Piras, F., Quenez, O., Ramirez, A., Raybould, R., Redon, R., Reinders, M. J. T., Richard, A. C., Riedel-Heller, S. G., Rivadeneira, F., van Rooij, J. G. J., Rousseau, S., Ryan, N. S., Sanchez-Juan, P., Schellenberg, G. D., Scheltens, P., Schott, J. M., Seshadri, S., Sie, D., Sims, R., Sistermans, E. A., Sorbi, S., van Swieten, J. C., Tijms, B., Uitterlinden, A. G., Visser, P. J., Wagner, M., Wallon, D., Wang, L. S., Williams, J., Yokoyama, J. S., Zarea, A., van der Lee, S. J., Olsen, J. G., Hulsman, M. & Holstege, H., 1 Dec 2025, In: Molecular Neurodegeneration. 20, 1, 122.

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

    Open Access
    File
    2 Citations (Scopus)
    5 Downloads (Pure)
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