Personal profile
External positions
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3 Nov 2025 → 31 Dec 3999
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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A VAPB (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report
Willemse, S. W., Demaegd, K. C., Van Eijk, R. P. A., Van Damme, P., Harrington, E., Harms, M. B., Shneider, N. A., Van Rheenen, W., Veldink, J. H., Van Den Berg, L. H. & Van Es, M. A., Jan 2026, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 27, 1-2, p. 227-229 3 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS
Demaegd, K. C., Koole, W., Van Vugt, J. J., Dankbaar, J. W., Hendrikse, J., Nazlı Başak, A., De Carvalho, M., Corcia, P., Codron, P., Bernard, E., Guissart, C., Couratier, P., Povedano Panades, M., Van Doorn, P. A., Warrenburg, B. P., Cooper-Knock, J., Pasterkamp, R. J., Van Rheenen, W., Van Damme, P. & Van den Berg, L. H. & 22 others, , 18 Feb 2026, In: BMJ Neurology Open. 8, 1, e001417.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2
Demaegd, K. C., Kernan, A., Cooper-Knock, J., van Vugt, J. J. F. A., Harvey, C., Moll, T., O’Brien, D., Gornall, S., Drury, L., Farhan, S. M. K., Dion, P. A., Rouleau, G. A., Western, A., Parsons, P. J., Mclean, B., Benatar, M., van den Berg, L. H., Van Damme, P., Willem Dankbaar, J. & Hendrikse, J. & 10 others, , Sept 2025, In: European Journal of Human Genetics. 33, 9, p. 1106-1112 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile24 Downloads (Pure) -
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy
Zwartkruis, M. M., Kortooms, J. V., Gommers, D., Elferink, M. G., Signoria, I., van der Sel, J., Hop, P. J., Zwamborn, R. A. J., Geene, R., Green, J. W., van Deutekom, H. W. M., van Rheenen, W., Veldink, J. H., Asselman, F. L., Wadman, R. I., van der Pol, W. L., van Haaften, G. W. & Groen, E. J. N., 16 May 2025, In: iScience. 28, 5, 112461.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile12 Downloads (Pure) -
Dissecting epigenetic age acceleration in amyotrophic lateral sclerosis
Merbaum, P., Zwamborn, R., Hop, P., Sequencing Consortium, P. M. E. A., van Rheenen, W. & Veldink, J., 2025, In: Epigenomics. 17, 16, p. 1153-1161 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile