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The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Gavazzi, F., Charsar, B., Hamilton, E., Erler, J. A., Patel, V., Helman, G., Pizzino, A., Muirhead, K., Takanohashi, A., Bonkowsky, J. L., Meyerhoffer, K., Simons, C., Doi, H., Satoko, M., Matsumoto, N., Sanchez-Castillo, M., Wang, J., de Carvalho, D. R., Nicita, F. & Bertini, E. & 12 others, , Mar 2025, In: Molecular Genetics and Metabolism. 144, 3, p. 1-14 14 p., 109048.Research output: Contribution to journal › Article* › Academic › peer-review
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Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies
Plug, B. C., Revers, I. M., Breur, M., González, G. M., Timmerman, J. A., Meijns, N. R. C., Hamberg, D., Wagendorp, J., Wolf, N. I., Luchicchi, A., Mansvelder, H. D., van Til, N. P., van der Knaap, M. S. & Bugiani, M., Dec 2024, In: Acta Neuropathologica Communications. 12, 1, p. 1-17 17 p., 83.Research output: Contribution to journal › Article* › Academic › peer-review
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Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings
Beerepoot, S., Verbeke, J. I. M. L., Pouwels, P. J. W., Wolf, N. I., Simons, C. & van der Knaap, M. S., Nov 2024, In: American Journal of Medical Genetics, Part A. 194, 11, p. 1-9 9 p., e63800.Research output: Contribution to journal › Article* › Academic › peer-review
