1. Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence

   Donis, K. C., Saute, J. A. M., Krum-Santos, A. C., Furtado, G. V., Mattos, E. P., Saraiva-Pereira, M. L., Torman, V. L. & Jardim, L. B., Apr-2016, In : Neurogenetics. 17, 2, p. 107-113 7 p.

   Research output: Contribution to journal › Article › Academic › peer-review

2. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

   Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., Humphray, S., Kimura-Ohba, S., Kingsbury, Z., Lajoie, B. R., Lal, D., Micha, D., Pizzino, A., Sinke, R. J., Sival, D., Stolte-Dijkstra, I., Superti-Furga, A., Ulrick, N., Taft, R. J., Ogata, T., Ozono, K., Matsumoto, N., Neubauer, B. A., Simons, C. & Vanderver, A., Dec-2017, In : Neurogenetics. 18, 4, p. 185-194 10 p.

   Research output: Contribution to journal › Article › Academic › peer-review

3. Male patients affected by mosaic PCDH19 mutations: five new cases

   de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., Brouwer, O. F., Mancini, G. M. S., Newman, H. A., Vos, Y. J., Helbig, K. L., Peeters-Scholte, C., Kriek, M., Knoers, N. V., Lindhout, D., Koeleman, B. P. C., van Kempen, M. J. A. & Brilstra, E. H., Jul-2017, In : Neurogenetics. 18, 3, p. 147-153 7 p.

   Research output: Contribution to journal › Article › Academic › peer-review

4. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

   Vermeer, S., Meijer, R. P. P., Pijl, B. J., Timmermans, J., Cruysberg, J. R. M., Bos, M. M., Schelhaas, H. J., van de Warrenburg, B. P. C., Knoers, N. V. A. M., Scheffer, H. & Kremer, H. P. H., Jul-2008, In : Neurogenetics. 9, 3, p. 207-214 8 p.

   Research output: Contribution to journal › Article › Academic › peer-review

5. A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

   Gerkes, E. H., Fock, J. M., den Dunnen, W. F. A., van Belzen, M. J., van der Lans, C. A., Hoving, E. W., Fakkert, I. E., Smith, M. J., Evans, D. G. & Olderode-Berends, M. J. W., Apr-2016, In : Neurogenetics. 17, 2, p. 83-89 7 p.

   Research output: Contribution to journal › Review article › Academic › peer-review

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