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The Capital Region of Denmark - a part of Copenhagen University Hospital

Acta Neuropathologica, 0001-6322

Journal

  1. 2019
  2. Published

    MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S. H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. R., Innes, A. M., Bönnemann, C. G., Shutt, T. E. & Care4Rare Canada Consortium, Dec 2019, In : Acta Neuropathologica. 138, 6, p. 1013-1031 19 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    MYCN amplification drives an aggressive form of spinal ependymoma

    Ghasemi, D. R., Sill, M., Okonechnikov, K., Korshunov, A., Yip, S., Schutz, P. W., Scheie, D., Kruse, A., Harter, P. N., Kastelan, M., Wagner, M., Hartmann, C., Benzel, J., Maass, K. K., Khasraw, M., Sträter, R., Thomas, C., Paulus, W., Kratz, C. P., Witt, H., Kawauchi, D., Herold-Mende, C., Sahm, F., Brandner, S., Kool, M., Jones, D. T. W., von Deimling, A., Pfister, S. M., Reuss, D. E. & Pajtler, K. W., Dec 2019, In : Acta Neuropathologica. 138, 6, p. 1075-1089 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

    Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., Lindqvist, J., Claeys, K. G., Weis, J., Monforte, M., Tasca, G., Moggio, M., Figeac, N., Zammit, P. S., Jungbluth, H., Fiorillo, C., Vissing, J., Witting, N., Granzier, H., Zanoteli, E., Hardeman, E. C., Wallgren-Pettersson, C. & Ochala, J., Sep 2019, In : Acta Neuropathologica. 138, 3, p. 477-495 19 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA

    Hou, Y., Pinheiro, J., Sahm, F., Reuss, D. E., Schrimpf, D., Stichel, D., Casalini, B., Koelsche, C., Sievers, P., Wefers, A. K., Reinhardt, A., Ebrahimi, A., Fernández-Klett, F., Pusch, S., Meier, J., Schweizer, L., Paulus, W., Prinz, M., Hartmann, C., Plate, K. H., Reifenberger, G., Pietsch, T., Varlet, P., Pagès, M., Schüller, U., Scheie, D., de Stricker, K., Frank, S., Hench, J., Pollo, B., Brandner, S., Unterberg, A., Pfister, S. M., Jones, D. T. W., Korshunov, A., Wick, W., Capper, D., Blümcke, I., von Deimling, A. & Bertero, L., May 2019, In : Acta Neuropathologica. 137, 5, p. 837-846 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2018
  7. Published

    Mutant superoxide dismutase aggregates from human spinal cord transmit amyotrophic lateral sclerosis

    Ekhtiari Bidhendi, E., Bergh, J., Zetterström, P., Forsberg, K., Pakkenberg, B., Andersen, P. M., Marklund, S. L. & Brännström, T., 3 Oct 2018, In : Acta Neuropathologica.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2015
  9. Published

    Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

    Clayton, E. L., Mizielinska, S., Edgar, J. R., Nielsen, T. T., Marshall, S., Norona, F. E., Robbins, M., Damirji, H., Holm, I. E., Johannsen, P., Nielsen, J. E., Asante, E. A., Collinge, J., Isaacs, A. M., FReJA consortium, Stokholm, J., Roos, P. & Lindquist, S. G., Oct 2015, In : Acta Neuropathologica. 130, 4, p. 511-23 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Critical role of somatostatin receptor 2 in the vulnerability of the central noradrenergic system: new aspects on Alzheimer's disease

    Ádori, C., Glück, L., Barde, S., Yoshitake, T., Kovacs, G. G., Mulder, J., Maglóczky, Z., Havas, L., Bölcskei, K., Mitsios, N., Uhlén, M., Szolcsányi, J., Kehr, J., Rönnbäck, A., Schwartz, T., Rehfeld, J. F., Harkany, T., Palkovits, M., Schulz, S. & Hökfelt, T., Apr 2015, In : Acta Neuropathologica. 129, 4, p. 541-63 23 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2010
  12. Published

    FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

    Urwin, H., Josephs, K. A., Rohrer, J. D., Mackenzie, I. R., Neumann, M., Authier, A., Seelaar, H., Van Swieten, J. C., Brown, J. M., Johannsen, P., Nielsen, J. E., Holm, I. E., Dickson, D. W., Rademakers, R., Graff-Radford, N. R., Parisi, J. E., Petersen, R. C., Hatanpaa, K. J., White, C. L., Weiner, M. F., Geser, F., Van Deerlin, V. M., Trojanowski, J. Q., Miller, B. L., Seeley, W. W., van der Zee, J., Kumar-Singh, S., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Bigio, E. H., Deng, H-X., Halliday, G. M., Kril, J. J., Munoz, D. G., Mann, D. M., Pickering-Brown, S. M., Doodeman, V., Adamson, G., Ghazi-Noori, S., Fisher, E. M. C., Holton, J. L., Revesz, T., Rossor, M. N., Collinge, J., Mead, S., Isaacs, A. M. & FReJA Consortium, 1 Jul 2010, In : Acta Neuropathologica. 120, 1, p. 33-41 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2003
  14. Published

    Selective reduction of soluble Tau proteins in sporadic and familial frontotemporal dementias: An international follow-up study

    Zhukareva, V., Sundarraj, S., Mann, D., Sjogren, M., Blenow, K., Clark, C. M., McKeel, D. W., Goate, A., Lippa, C. F., Vonsattel, J. P., Growdon, J. H., Trojanowski, J. Q. & Lee, V. M. Y., 1 May 2003, In : Acta Neuropathologica. 105, 5, p. 469-476 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 1993
  16. Published

    Cerebral atrophy in AIDS: a stereological study.

    Oster, S., Christoffersen, P., Gundersen, H. J., Nielsen, J. O., Pakkenberg, B. & Pedersen, C., 1993, In : Acta Neuropathologica. 85, 6, p. 617-622 6 p.

    Research output: Contribution to journalJournal articleResearch

ID: 9729