J. Nicolai

Möller, B., Becker, L.-L., Saffari, A., Afenjar, A., Coci, E. G., Williamson, R., Ward-Melver, C., Gibaud, M., Sedlácková, L., Laššuthová, P., Libá, Z., Vlcková, M., William, N., Klee, E. W., Gavrilova, R. H., Lévy, J., Capri, Y., Scavina, M., Körner, R. W., ... Dafsari, H. S. (2025). The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain, 148(2), 597-612. https://doi.org/10.1093/brain/awae183

De Wachter, M., Millevert, C., Nicolai, J., Cats, E., Kluger, G., Milh, M., Cloarec, R., Syrbe, S., Arts, K., Jansen, K., Krygier, M., Smigiel, R., Auvin, S., Olofson, K., Gjerulfsen, C. E., Ceulemans, B., Moller, R. S., Bayat, A., & Weckhuysen, S. (2025). Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study. Epilepsia. Advance online publication. https://doi.org/10.1111/epi.18310

Kingma, S. D. K., Steinbusch, L. K. M., Aukema, S. M., Sinnema, M., Panis, B., Nicolai, J., & Rubio-Gozalbo, E. (2024). D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease? Molecular Genetics and Metabolism Reports, 41, Article 101159. https://doi.org/10.1016/j.ymgmr.2024.101159

Bulthuis, E. P., Adjobo-Hermans, M. J. W., de Potter, B., Hoogstraten, S., Wezendonk, L. H. T., Tutakhel, O. A. Z., Wintjes, L. T., van den Heuvel, B., Willems, P. H. G. M., Kamsteeg, E. J., Gozalbo, M. E. R., Sallevelt, S. C. E. H., Koudijs, S. M., Nicolai, J., de Bie, C. I., Hoogendijk, J. E., Koopman, W. J. H., & Rodenburg, R. J. (2023). SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement. Biochimica et Biophysica Acta-Molecular Basis of Disease, 1869(8), Article 166808. https://doi.org/10.1016/j.bbadis.2023.166808

Roodbol, J., Korinthenberg, R., Venema, E., de Wit, M. C. Y., Lingsma, H. F., Catsman-Berrevoets, C. E., Engelen, M., Erasmus, C. E., Geleijns, C. P. W., Kotsopoulos, I. A. W., Nicolai, J., Niermeijer, J. M. F., Niks, E. H., Samijn, J., Jacobs, B. C., Austria and Switzerland and the Dutch Pediatric GBS Study Group, & Working Group GBS in Children in Germany (2023). Predicting respiratory failure and outcome in pediatric Guillain-Barré syndrome. European Journal of Paediatric Neurology, 44(1), 18-24. https://doi.org/10.1016/j.ejpn.2023.02.007

Janssen, E., Oosterloo, M., Rubio-Gozalbo, E., Van Gassen, K., & Nicolai, J. (2023). Teaching Video NeuroImage: Improvement in Motor Development after Start of Levodopa in Tyrosine Hydroxylase Deficiency. Neurology, 100(16), S14. https://doi.org/10.1212/WNL.0000000000206908

Loong, L., Tardivo, A., Knaus, A., Hashim, M., Pagnamenta, A. T., Alt, K., Böhrer-Rabel, H., Caro-Llopis, A., Cole, T., Distelmaier, F., Edery, P., Ferreira, C. R., Jezela-Stanek, A., Kerr, B., Kluger, G., Krawitz, P. M., Kuhn, M., Lemke, J. R., Lesca, G., ... Kini, U. (2023). Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. Genetics in Medicine, 25(1), 37-48. https://doi.org/10.1016/j.gim.2022.09.007

Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., García-Miñaúr, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Míguez, M., ... Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in Medicine, 24(11), 2351-2366. https://doi.org/10.1016/j.gim.2022.08.006

Bayat, A., Valles-Ibanez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., ... Stumpel, C. T. (2022). PIGN encephalopathy: Characterizing the epileptology. Epilepsia, 63(4), 974-991. https://doi.org/10.1111/epi.17173

Janssen, E., Oosterloo, M., Rubio-Gozalbo, E., van Gassen, K., & Nicolai, J. (2021). Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency. Neurology, 97(5), E540-E540. https://doi.org/10.1212/WNL.0000000000011757