Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor


  1. 2012
  2. Published

    Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). / Eiberg, H; Hansen, L; Korbo, L; Nielsen, Inge-Merete; Svenstrup, K; Bech, S; Pinborg, Lh; Friberg, L; Hjermind, LE; Olsen, Or; Nielsen, Jørgen Erik.

    In: Clinical Genetics, Vol. 82, No. 3, 11.2012, p. 256-63.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia. / Nielsen, Troels Tolstrup; Svenstrup, Kirsten; Budtz-Jørgensen, Esben; Eiberg, Hans; Hasholt, Lis; Nielsen, Jørgen E.

    In: Journal of the Neurological Sciences, Vol. 321, No. 1-2, 10.2012, p. 100-2.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy. / Jønch, Aia E; Danielsen, Else R; Thomsen, Carsten; Meden, Per; Svenstrup, Kirsten; Nielsen, Jørgen Erik.

    In: B M C Neurology, Vol. 12, No. 108, 26.09.2012.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference. / Nielsen, Troels Tolstrup; Mizielinska, Sarah; Hasholt, Lis; Isaacs, Adrian M; Nielsen, Jørgen E; the FReJA Consortium.

    In: Journal of Gene Medicine, Vol. 14, No. 8, 08.2012, p. 521-529.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene : A case report. / Nielsen, Troels Tolstrup; Mardosiene, Skirmante; Løkkegaard, Annemette; Stokholm, Jette; Ehrenfels, Susanne; Bech, Sara; Friberg, Lars; Nielsen, Jens Kellberg; Nielsen, Jørgen E.

    In: B M C Neurology, Vol. 12, 08.2012, p. 73.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    The DJ-1 concentration in cerebrospinal fluid does not differentiate among parkinsonian syndromes. / Salvesen, Lisette; Bech, Sara; Lokkegaard, Annemette; Hjermind, Lena E; Nielsen, Jørgen E; Pakkenberg, Bente; Tanassi, Julia T; Heegaard, Niels H H; Winge, Kristian.

    In: Parkinsonism & Related Disorders, Vol. 18, No. 7, 08.2012, p. 899-901.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. / Lee, J-M; Ramos, E M; Lee, J-H; Gillis, T; Mysore, J S; Hayden, M R; Warby, S C; Morrison, P; Nance, M; Ross, C A; Margolis, R L; Squitieri, F; Orobello, S; Di Donato, S; Gomez-Tortosa, E; Ayuso, C; Suchowersky, O; Trent, R J A; McCusker, E; Novelletto, A; Frontali, M; Jones, R; Ashizawa, T; Frank, S; Saint-Hilaire, M H; Hersch, S M; Rosas, H D; Lucente, D; Harrison, M B; Zanko, A; Abramson, R K; Marder, K; Sequeiros, J; Paulsen, J S; Landwehrmeyer, G B; Myers, R H; MacDonald, M E; Gusella, J F; Hasholt, Lis Frydenreich; Nørremølle, Anne; Nielsen, Jørgen Erik; PREDICT-HD study of the Huntington Study Group (HSG).

    In: Neurology, Vol. 78, No. 10, 03.2012, p. 690-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI. / Lunau, Line Andersen; Mouridsen, Kim; Rodell, Anders; Ostergaard, Leif; Nielsen, Jørgen Erik; Isaacs, Adrian; Johannsen, Peter; The FReJA Consortium.

    In: BMJ Open, Vol. 2, No. 2, 03.2012.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Amyloid-related biomarkers and axonal damage proteins in parkinsonian syndromes. / Bech, Sara; Hjermind, Lena E; Salvesen, Lisette; Nielsen, Jørgen E; Heegaard, Niels H H; Jørgensen, Henrik L; Rosengren, Lars; Blennow, Kaj; Zetterberg, Henrik; Winge, Kristian.

    In: Parkinsonism & Related Disorders, Vol. 18, No. 1, 2012, p. 69-72.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 9689629