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Cortical interneuron development is affected in 4H leukodystrophy
Dooves, S., Kok, L. M. L., Holmes, D. B., Breeuwsma, N., Breur, M., Bugiani, M., Wolf, N. I. & Heine, V. M., 2 Feb 2023, (E-pub ahead of print) In: Brain : a journal of neurology.Research output: Contribution to journal › Article › Academic › peer-review
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Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy
do Rosario, M. C., Bey, G. R., Nmezi, B., Liu, F., Oranburg, T., Cohen, A. S. A., Coffman, K. A., Brown, M. R., Kiselyov, K., Waisfisz, Q., Flohil, M. T., Siddiqui, S., Rosenfeld, J. A., Iglesias, A., Girisha, K. M., Wolf, N. I., Padiath, Q. S. & Shukla, A., 19 Dec 2022, In: Brain. 145, 12, p. 4202-4209 7 p., 35953447.Research output: Contribution to journal › Article › Academic › peer-review
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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
Schoenmakers, D. H., Beerepoot, S., van den Berg, S., Adang, L., Bley, A., Boelens, J-J., Fumagalli, F., Goettsch, W. G., Grønborg, S., Groeschel, S., van Hasselt, P. M., Hollak, C. E. M., Lindemans, C., Mochel, F., Mol, P. G. M., Sevin, C., Zerem, A., Schöls, L. & Wolf, N. I., 1 Dec 2022, In: Orphanet Journal of Rare Diseases. 17, 1, p. 48 1 p., 48.Research output: Contribution to journal › Article › Academic › peer-review
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