Research output per year
Research output per year
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Dive into the research topics where Evita van den Herik is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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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, 29 Apr 2023, (E-pub ahead of print) In: Acta Neuropathologica.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy
Ragamin, A., Gomes, C. C., Bindels-De Heus, K., Sandoval, R., Bassenden, A. V., Dib, L., Kok, F., Alves, J., Mathijssen, I., Medici-Van Den Herik, E., Eveleigh, R., Gayden, T., Pullens, B., Berghuis, A., Van Slegtenhorst, M., Wilke, M., Jabado, N., Mancini, G. M. S. & Gomez, R. S., 28 Feb 2022, In: Journal of Medical Genetics. 59, 3, p. 305-312 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Citations (Scopus)2 Downloads (Pure) -
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report
Eleftheriadou, M., Medici- van den Herik, E., Stuurman, K., van Bever, Y., Hellebrekers, D. M. E. I., van Slegtenhorst, M., Ruijter, G. & Barakat, T. S., 11 Jan 2021, In: Molecular Genetics and Genomic Medicine. 9, 2, e1595.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)9 Downloads (Pure) -
Prevalence of bladder and bowel dysfunction in duchenne muscular dystrophy using the childhood bladder and bowel dysfunction questionnaire
Lionarons, J. M., de Groot, I. J. M., Fock, J. M., Klinkenberg, S., Vrijens, D. M. J., Vreugdenhil, A. C. E., Medici-Van Den Herik, E. G., Cuppen, I., Jaeger, B., Niks, E. H., Hoogerhuis, R., Platte-Van Attekum, N., Feron, F. J. M., Faber, C. G., Hendriksen, J. G. M. & Vles, J. S. H., 30 Jul 2021, In: Life. 11, 8, 772.Research output: Contribution to journal › Article › Professional
Open Access2 Citations (Scopus) -
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W., Alsagob, M., Capo, I., Linde, H., Berg, P., Jacobs, EH., Putar, D., Ghazvini, M., Ijcken, W., Valk, W., Slegtenhorst, M., Herik, E., Brooks, A., Ham, T. & Barakat, S., 2020, In: Acta Neuropathologica. 139, 3, p. 415-442 28 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile26 Citations (Scopus)10 Downloads (Pure)