Research output per year
Research output per year
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Dive into the research topics where Rick van Minkelen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Deng, R., Medico-Salsench, E., Nikoncuk, A., Ramakrishnan, R., Lanko, K., Kühn, N. A., van der Linde, H. C., Lor-Zade, S., Albuainain, F., Shi, Y., Yousefi, S., Capo, I., van den Herik, E. M., van Slegtenhorst, M., van Minkelen, R., Geeven, G., Mulder, M. T., Ruijter, G. J. G., Lütjohann, D., Jacobs, E. H., & 32 others, Aug 2023, In: Acta Neuropathologica. 146, 2, p. 353-368 16 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)6 Downloads (Pure) -
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia
Genetic FTD Initiative (GENFI), Bussy, A., Levy, J. P., Best, T., Patel, R., Cupo, L., Van Langenhove, T., Nielsen, J. E., Pijnenburg, Y., Waldö, M. L., Remes, A. M., Schroeter, M. L., Santana, I., Pasquier, F., Otto, M., Danek, A., Levin, J., Le Ber, I., Vandenberghe, R., Synofzik, M., & 31 others, 1 May 2023, In: Human Brain Mapping. 44, 7, p. 2684-2700 17 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
Douben, H., Hoogeveen-Westerveld, M., Nellist, M., Louwen, J., Haan, M. K. D., Punt, M., Van Ommeren, B., Van Unen, L., Elfferich, P., Kasteleijn, E., Van Bever, Y., Van Vliet, M., Oostenbrink, R., Saris, J. J., Wagner, A., Van Ierland, Y., Van Ham, T. & Van Minkelen, R., 15 Feb 2023, In: Human Mutation. 2023, 9628049.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
Language impairment in the genetic forms of behavioural variant frontotemporal dementia
Samra, K., MacDougall, A. M., Genetic FTD Initiative (GENFI), Bouzigues, A., Bocchetta, M., Cash, D. M., Greaves, C. V., Convery, R. S., van Swieten, J. C., Seelaar, H., Jiskoot, L., Moreno, F., Sanchez-Valle, R., Laforce, R., Graff, C., Masellis, M., Tartaglia, M. C., Rowe, J. B., Borroni, B., Finger, E., & 16 others, Apr 2023, In: Journal of Neurology. 270, 4, p. 1976-1988 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)3 Downloads (Pure) -
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales
MacDougall, A. M., Samra, K., Genetic FTD Initiative (GENFI), Peakman, G., Bouzigues, A., Bocchetta, M., Cash, D., Greaves, C. V., Convery, R. S., van Swieten, J. C., Jiskoot, L., Seelaar, H., Moreno, F., Sanchez-Valle, R., Laforce, R., Graff, C., Masellis, M., Tartaglia, C., Rowe, J. B., Borroni, B., & 21 others, Mar 2023, In: Journal of Neurology. 270, 3, p. 1466-1477 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)1 Downloads (Pure)