Eline Hamilton

MSC.

20132019

Research output per year

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Research Output

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Article
2018

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

Hamilton, E. M. C., Tekturk, P., Cialdella, F., van Rappard, D. F., Wolf, N. I., Yalcinkaya, C., Çetinçelik, Ü., Rajaee, A., Kariminejad, A., Paprocka, J., Yapici, Z., Bošnjak, V. M., van der Knaap, M. S. & MLC Research Group, 17 Apr 2018, In : Neurology. 90, 16, p. e1395-e1403

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts

Dubey, M., Brouwers, E., Hamilton, E. M. C., Stiedl, O., Bugiani, M., Koch, H., Kole, M. H. P., Boschert, U., Wykes, R. C., Mansvelder, H. D., van der Knaap, M. S. & Min, R., Mar 2018, In : Annals of Neurology. 83, 3, p. 636-649 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The natural history of Vanishing White Matter

Hamilton, E. M. C., Uitdehaag, B. M. J., Lissenberg-Witte, B. I., van der Knaap, M. S. & VWM Research Group, 6 Sep 2018, In : Annals of Neurology. 84, 2, p. 274-288

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2017

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., Van Der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M. & Van Der Knaap, M. S., 24 Oct 2017, In : Neurology. 89, 17, p. 1821-1828 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2015
2014

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

Hamilton, E. M. C., Polder, E., Vanderver, A., Naidu, S., Schiffmann, R., Fisher, K., Raguz, A. B., Blumkin, L., van Berkel, C. G. M., Waisfisz, Q., Simons, C., Taft, R. J., Abbink, G. E. M., Wolf, N. I. & van der Knaap, M. S., 2014, In : Brain. 137, p. 1921-1930

Research output: Contribution to journalArticleAcademicpeer-review

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, EMC., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, NI., Krägeloh-Mann, I., Brautaset, N. J., Andrews, P. I., de Jong, BA., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Würdinger, T., van Berkel, C. G. M., Polder, E., Abbink, TE., Struys, E. A. & 2 others, Scheper, GC. & van der Knaap, MS., 2014, In : Brain. 137

Research output: Contribution to journalArticleAcademicpeer-review

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M. C., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., Jong, B. A., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Wurdinger, T., van Berkel, C. G. M., Polder, E., Abbink, T. E. M., Struys, E. A. & 2 others, Scheper, G. C. & van der Knaap, M. S., 2014, In : Brain. 137, p. 1019-1029

Research output: Contribution to journalArticleAcademicpeer-review

Novel (ovario) leukodystrophy related to AARS2 mutations

Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L. J., Salomons, G. S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T. M., Meitinger, T., Prokisch, H., Chapman, K., Colley, A., Rocha, H., Ounap, K., Schiffmann, R., Salsano, E., Savoiardo, M., Hamilton, E. M. C. & 8 others, Abbink, G. E. M., Wolf, N. I., Ferrero, I., Lamperti, C., Zeviani, M., Vanderver, A., Ghezzi, D. & van der Knaap, M. S., 2014, In : Neurology. 82, 23, p. 2063-2071

Research output: Contribution to journalArticleAcademicpeer-review

Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy

van der Knaap, M. S., Hamilton, E. M. C. & van Berge, L., 2014, In : Brain. 137, 7, e290.

Research output: Contribution to journalArticleAcademicpeer-review

2013

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

Nota, B., Hamilton, E. M. C., Sie, D. L. S., Ozturk, S., van Dooren, S. J. M., Ojeda, M. R. F., Jakobs, C. A. J. M., Christensen, E., Kirk, E. P., Sykut-Cegielska, J., Lund, A. M., van der Knaap, M. S. & Salomons, G. S., 2013, In : Journal of Medical Genetics. 50, 11, p. 754-759

Research output: Contribution to journalArticleAcademicpeer-review