Research output per year
Research output per year
Personal profile
Research interests
Peripheral neuropathies like Charcot-Marie-Tooth disease (CMT)
Specialisation
Neurogenetica
Education/Academic qualification
PhD, Radboud Universiteit Nijmegen
1 Mar 1993 → 26 May 1998
Award Date: 26 May 1998
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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 Ruisssen, F., Aalfs, C., Pijnenburg, Y. A. L. & van Ruissen, 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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Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions
Reus, L. M., Jansen, I. E., Mol, M. O., van Ruissen, F., van Rooij, J., van Schoor, N. M., Tesi, N., Reinders, M. J. T., Huisman, M. A., Holstege, H., Visser, P. J., de Boer, S. C. M., Hulsman, M., Ahmad, S., Amin, N., Uitterlinden, A. G., Ikram, A., van Duijn, C. M., Seelaar, H., Ramakers, I. H. G. B. & 10 others, , 2 Sep 2021, In: Translational Psychiatry. 11, 1, p. 1-8 8 p., 451.Research output: Contribution to Journal › Article › Academic › peer-review
Open Access -
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
Open Access -
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., 2017, In: Human Molecular Genetics. 26, 11, p. 2034-2041Research output: Contribution to Journal › Article › Academic › peer-review
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Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations
van Paassen, B. W., Bronk, M., Verhamme, C., van Ruissen, F., Baas, F., van Spaendonck-Zwarts, K. Y. & de Visser, M., 2017, In: Journal of the peripheral nervous system. 22, 4, p. 464-467Research output: Contribution to Journal › Article › Academic › peer-review