Neurogenetics, 1364-6745
Journal
Related Publications
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
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
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
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
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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