Specialization
Neurogenetica
Focus of research
Peripheral neuropathies like Charcot-Marie-Tooth disease (CMT)
Amsterdam Reproduction & Development
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Early life involvement in C9orf72 repeat expansion carriers
Gossink, F., Dols, A., Stek, M. L., Scheltens, P., Nijmeijer, B., Cohn Hokke, P., Dijkstra, A., van Ruissen, F., Aalfs, C., Pijnenburg, Y. A. L. & van Ruisssen, F., 2021, (E-pub ahead of print) In: Journal of Neurology, Neurosurgery and Psychiatry. 2020325994.Research output: Contribution to journal › Article* › Academic › peer-review
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Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
Weterman, M. A. J., Kuo, M., Kenter, S. B., Gordillo, S., Karjosukarso, D. W., Takase, R., Bronk, M., Oprescu, S., van Ruissen, F., Witteveen, R. J. W., Bienfait, H. M. E., Breuning, M., Verhamme, C., Hou, Y.-M., de Visser, M., Antonellis, A. & Baas, F., 2018, In: Human molecular genetics. 27, 23, p. 4036-4050Research output: Contribution to journal › Article* › Academic › peer-review
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LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P
Hakonen, J. E., Sorrentino, V., Avagliano Trezza, R., de Wissel, M. B., van den Berg, M., Bleijlevens, B., van Ruissen, F., Distel, B., Baas, F., Zelcer, N. & Weterman, M. A. J., 1 Jun 2017, In: Human molecular genetics. 26, 11, p. 2034-2041 8 p.Research output: Contribution to journal › Article* › Academic › peer-review
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