Maartje Boon

2025

Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification

Zhang, K., Löhner, K., Lemmink, H. H., Boon, M., Lentini, J. M., de Silva, N. & Fu, D., 9-jan.-2025, In: Human Genetics and Genomics Advances. 6, 1, 8 blz., 100377.

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2021

Prognostic factors for relapse and outcome in pediatric acute transverse myelitis

Dutch Study Grp Pediat Multiple Sc, Acute Disseminated Encephalomyelit, Helfferich, J., Bruijstens, A. L., Wong, Y. Y. M., van Pelt, E. D., Boon, M. & Neuteboom, R. F., mei-2021, In: Brain & Development. 43, 5, blz. 626-636 11 blz.

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7 Citaten (Scopus)

128 Downloads (Pure)

2020

Thoracoscopic sympathicotomy for the treatment of intolerable palmar and axillary hyperhidrosis in children is associated with high recurrence rates

Verhaegh, A. J. F. P., Kuijpers, M., Boon, M., DeJongste, M. J. L., Bouma, W., Mariani, M. A. & Klinkenberg, T. J., sep.-2020, In: Pediatric dermatology. 37, 5, blz. 987-992 6 blz.

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6 Citaten (Scopus)

84 Downloads (Pure)

2019

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Care4Rare Canada Consortium, Johnstone, D. L., Al-Shekaili, H. H., Tarailo-Graovac, M., Wolf, N. I., Ivy, A. S., Demarest, S., Roussel, Y., Ciapaite, J., van Roermund, C. W. T., Kernohan, K. D., Kosuta, C., Ban, K., Ito, Y., McBride, S., Al-Thihli, K., Abdelrahim, R. A., Koul, R., Al Futaisi, A. & Haaxma, C. A. & 31 anderen, Olson, H., Sigurdardottir, L. Y., Arnold, G. L., Gerkes, E. H., Boon, M., Heiner-Fokkema, M. R., Noble, S., Bosma, M., Jans, J., Koolen, D. A., Kamsteeg, E.-J., Drögemöller, B., Ross, C. J., Majewski, J., Cho, M. T., Begtrup, A., Wasserman, W. W., Bui, T., Brimble, E., Violante, S., Houten, S. M., Wevers, R. A., van Faassen, M., Kema, I. P., Lepage, N., Lines, M. A., Dyment, D. A., Wanders, R. J. A., Verhoeven-Duif, N., Ekker, M. & Boycott, K. M., mrt.-2019, In: Brain. 142, blz. 542-559 18 blz.

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75 Citaten (Scopus)

2018

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study

de Mol, C. L., Wong, Y. Y. M., van Pelt, E. D., Ketelslegers, I. A., Bakker, D. P., Boon, M., Braun, K. P. J., van Dijk, K. G. J., Eikelenboom, M. J., Engelen, M., Geleijns, K., Haaxma, C. A., Niermeijer, J. M. F., Niks, E. H., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., Portier, R. P., de Rijk-van Andel, J. F. & Samijn, J. P. A. & 11 anderen, Schippers, H. M., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Visscher, F., Vles, J. S. H., Willemsen, M. A. A. P., Catsman-Berrevoets, C. E., Hintzen, R. Q. & Neuteboom, R. F., jun.-2018, In: Journal of Neurology. 265, 6, blz. 1310-1319 10 blz.

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51 Citaten (Scopus)

330 Downloads (Pure)

2017

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces

Sinnige, P. F., van Rauenswaaij-Arts, C. M. A., Caruso, P., Lin, A. E., Boon, M., Rahikkala, E., Callewaert, B. & Meiners, L. C., nov.-2017, In: European Journal of Paediatric Neurology. 21, 6, blz. 912-920 9 blz.

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8 Citaten (Scopus)

2016

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach (vol 13, pg 192, 2016)

Boerma, R. S., Braun, K. P., van den Broek, M. P. H., van Berkestijn, F. M. C., Swinkels, M. E., Hagebeuk, E. O., Lindhout, D., van Kempen, M., Boon, M., Nicolai, J., de Kovel, C. G., Brilstra, E. H. & Koeleman, B. P. C., jan.-2016, In: Neurotherapeutics. 13, 1, blz. 238-238 1 blz.

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6 Citaten (Scopus)

Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas

Helfferich, J., Nijmeijer, R., Brouwer, O. F., Boon, M., Fock, A., Hoving, E. W., Meijer, L., den Dunnen, W. F. A. & de Bont, E. S. J. M., aug.-2016, In: Critical Reviews in Oncology/Hematology. 104, blz. 30-41 12 blz.

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82 Citaten (Scopus)

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Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Boerma, R. S., Braun, K. P., van de Broek, M. P. H., van Berkestijn, F. M. C., Swinkels, M. E., Hagebeuk, E. O., Lindhout, D., van Kempen, M., Boon, M., Nicolai, J., de Kovel, C. G., Brilstra, E. H. & Koeleman, B. P. C., jan.-2016, In: Neurotherapeutics. 13, 1, blz. 192-197 6 blz.

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115 Citaten (Scopus)

88 Downloads (Pure)

2014

Application of the 2012 revised diagnostic definitions for paediatric multiple sclerosis and immune-mediated central nervous system demyelination disorders

van Pelt, E. D., Neuteboom, R. F., Ketelslegers, I. A., Boon, M., Catsman-Berrevoets, C. E., Hintzen, R. Q. & Dutch Study Grp Paediat MS, jul.-2014, In: Journal of Neurology, Neurosurgery and Psychiatry. 85, 7, blz. 790-794 5 blz.

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