Neurogenetics, 1364-6745

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Related Publications
  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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-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 journalReview articleAcademicpeer-review

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