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J. Nicolai

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  • 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. (2024). The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain. Advance online publication. https://doi.org/10.1093/brain/awae183
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • Teunissen, M. W. A., Kamsteeg, E. J., Sallevelt, S. C. E. H., Pennings, M., Bauer, N. J. C., Vermeulen, R. J., & Nicolai, J. (2021). Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report. Neurology. Genetics, 7(2), Article 564. https://doi.org/10.1212/NXG.0000000000000564
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  • Tijssen, M. P., Cornips, E. M. J., & Nicolai, J. (2021). Teaching Video NeuroImages: Spontaneous Third Ventriculostomy. Neurology, 96(8), E1266-E1266. https://doi.org/10.1212/WNL.0000000000010843
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