M. Škorvánek, PhD

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E-mail:
m.skorvanek umcg.nl

Research

Publications
  1. Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities

    Genomics England Research Consortium, Steel, D., Zech, M., Zhao, C., Barwick, K. E., Burke, D., Demailly, D., Kumar, K. R., Zorzi, G., Nardocci, N., Kaiyrzhanov, R., Wagner, M., Iuso, A., Berutti, R., Škorvánek, M., Necpál, J., Davis, R., Wiethoff, S., Mankad, K., Sudhakar, S., Ferrini, A., Sharma, S., Kamsteeg, E-J., Tijssen, M. A., Verschuuren, C., van Egmond, M. E., Flowers, J. M., McEntagart, M., Tucci, A., Coubes, P., Bustos, B. I., Gonzalez-Latapi, P., Tisch, S., Darveniza, P., Gorman, K. M., Peall, K. J., Bötzel, K., Koch, J. C., Kmieć, T., Plecko, B., Boesch, S., Haslinger, B., Jech, R., Garavaglia, B., Wood, N., Houlden, H., Gissen, P., Lubbe, S. J., Sue, C. M., Cif, L. & Mencacci, N. E., 18-Aug-2020, In : Annals of Neurology. 88, 5, p. 867-877 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Prevalence of non-motor symptoms and their association with quality of life in cervical dystonia

    Han, V., Skorvanek, M., Smit, M., Turcanova Koprusakova, M., Hoekstra, T., van Dijk, J. P., Tijssen, M. A. J., Gdovinova, Z. & Reijneveld, S. A., 24-Jun-2020, In : Acta neurologica Scandinavica. 142, 6, p. 613-622 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Differences in MDS-UPDRS scores based on Hoehn and Yahr stage and disease duration: results of a large international multicentre study of 3206 patients (the QUALPD study)

    Qualpd Study Grp, Skorvanek, M., Martinez-Martin, P., Kovacs, N., Zezula, I., Rodriguez-Violante, M., Corvol, J. -C., Taba, P., Seppi, K., Levin, O., Schrag, A., Foltynie, T., Han, V., Goetz, C. & Stebbins, G. T., Jun-2016, In : European Journal of Neurology. 23, p. 808-809 2 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  4. Relationship between the MDS-UPDRS and Quality of Life in Parkinson's Disease: a large international multicenter Study (the QUALPD study)

    Qualpd Study Grp, Skorvanek, M., Martinez-Martin, P., Kovacs, N., Zezula, I., Rodriguez-Violante, M., Corvol, J. -C., Taba, P., Seppi, K., Levin, O., Schrag, A., Foltynie, T., Gdovinova, Z., Goetz, C. & Stebbins, G. T., Jun-2016, In : European Journal of Neurology. 23, p. 106-106 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  5. Predictors of Health-Related Quality of Life in Patients with Cervical Dystonia

    Han, V., Reijneveld, S. A., Gdovinova, Z., Tijssen, M., van Dijk, J. P., Hoekstra, T., Koprusakova, M. T., Smit, M. & Skorvanek, M., Oct-2019, In : Movement Disorders. 34, p. S251-S251 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

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