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Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI
Buermans, N. J. M. L., van den Bosch, S. J. G., Huffnagel, I. C., Steenweg, M. E., Engelen, M., Oostrom, K. J. & Geurtsen, G. J., 14 Sept 2019, In: Orphanet journal of rare diseases. 14, 1, p. 217 217.Research output: Contribution to journal › Article* › Academic › peer-review
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Altered PLP1 splicing causes hypomyelination of early myelinating structures
Kevelam, S. H., Taube, J. R., van Spaendonk, R. M. L., Bertini, E., Sperle, K., Tarnopolsky, M., Tonduti, D., Valente, E. M., Travaglini, L., Sistermans, E. A., Bernard, G., Catsman-Berrevoets, C. E., van Karnebeek, C. D. M., Østergaard, J. R., Friederich, R. L., Fawzi Elsaid, M., Schieving, J. H., Tarailo-Graovac, M., Orcesi, S. & Steenweg, M. E. & 7 others, , 2015, In: Annals of clinical and translational neurology. 2, 6, p. 648-661Research output: Contribution to journal › Article* › Academic › peer-review
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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy
van Berge, L., Hamilton, E. M., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krägeloh-Mann, I., Brautaset, N. J., Andrews, P. I., de Jong, B. A., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Würdinger, T., van Berkel, C. G. M., Polder, E., Abbink, T. E. M. & Struys, E. A. & 3 others, , 2014, In: Brain. 137, 4, p. 1019-1029Research output: Contribution to journal › Article* › Academic › peer-review
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