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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published

    Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Vaeth, S., Christensen, R., Dunø, M., Lildballe, D. L., Thorsen, K., Vissing, J., Svenstrup, K., Hertz, J. M., Andersen, H. & Jensen, U. B., 2019, In : European Journal of Medical Genetics. 62, p. 1-8

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

    Toft, A., Birk, S., Ballegaard, M., Dunø, M., Hjermind, L. E., Nielsen, J. E. & Svenstrup, K., 2019, In : Journal of Neurology. 266, 3, p. 735-744 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2017
  5. Published
  6. 2014
  7. Published

    Genetisk rådgivning er relevant både ved familiære og sporadiske tilfælde af amyotrofisk lateral sklerose

    Lindquist, S. G., Dunø, M., Svenstrup, K. & Nielsen, J. E., 20 Oct 2014, In : Ugeskrift for læger [online]. 176, 43, p. V0114023

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published
  9. Published

    Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort

    Nielsen, T. T., Svenstrup, K., Duno, M. & Nielsen, J. E., Jan 2014, In : Spinal Cord. 52, 1, p. 77-9 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2013
  11. Published

    Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

    Lindquist, S. G., Duno, M., Batbayli, M., Puschmann, A., Braendgaard, H., Mardosiene, S., Svenstrup, K., Pinborg, L. H., Vestergaard, K. F., Hjermind, LE., Stokholm, J., Andersen, B. B., Johannsen, P. & Nielsen, J. E., 2013, In : Clinical Genetics. 83, 3, p. 279–283

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2012
  13. Published

    ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

    Nielsen, T. T., Svenstrup, K., Budtz-Jørgensen, E., Eiberg, H. R. L., Hasholt, L. F. & Nielsen, J. E., 2012, In : Journal of the Neurological Sciences. 321, 1-2, p. 100-2 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

    Jønch, A. E., Danielsen, E. R., Thomsen, C., Meden, P., Svenstrup, K. & Nielsen, J. E., 2012, In : B M C Neurology. 12, 1, p. 108

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

    Eiberg, H. R. L., Hansen, L., Korbo, L., Nielsen, I., Svenstrup, K., Bech, S., Pinborg, L. H., Friberg, L., Hjermind, LE., Olsen, O. & Nielsen, J. E., 2012, In : Clinical Genetics. 82, 3, p. 256-263

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2011
  17. Published

    Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

    Gavassini, B. F., Carboni, N., Nielsen, J. E., Danielsen, E. R., Thomsen, C., Svenstrup, K., Bello, L., Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C., Vissing, J. & Pegoraro, E., 2011, In : Muscle & Nerve. 44, 5, p. 703-9 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

    Svenstrup, K., Møller, R. S., Christensen, J., Budtz-Jørgensen, E., Gilling, M. & Nielsen, J. E., 2011, In : European Journal of Neurology. 18, 9, p. 1197-9 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. 2010
  20. Published

    Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

    Svenstrup, K., Giraud, G., Boespflug-Tanguy, O., Danielsen, E. R., Thomsen, C., Rasmussen, K., Law, I., Vogel, A., Stokholm, J., Crone, C., Hjermind, L. E. & Nielsen, J. E., 1 Jun 2010, In : Journal of Neurology, Neurosurgery and Psychiatry. 81, 6, p. 666-72 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 32294882