Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor

Member of:

  • Neurology


  1. 2024
  2. Published

    Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)

    Lindskov, F. O., Karlsson, W. K., Skovbølling, S. L., Nielsen, E. N., Dunø, M., Stokholm, J., Henriksen, O. M., Langkilde, Annika Reynberg & Nielsen, Jørgen Erik, 2024, In: Cerebellum. 23, 2, p. 861-871

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. E-pub ahead of print

    Impairments of social cognition significantly predict the progression of functional decline in Huntington’s disease: A 6-year follow-up study

    Hendel, Rebecca K., Hellem, M. N. N., Larsen, I. U., Vinther-Jensen, T., Hjermind, L. E., Nielsen, Jørgen Erik & Vogel, Asmus, 2024, (E-pub ahead of print) In: Applied Neuropsychology: Adult.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2023
  5. Published

    A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease

    Boeddrich, A., Haenig, C., Neuendorf, N., Blanc, E., Ivanov, A., Kirchner, M., Schleumann, P., Bayraktaroğlu, I., Richter, M., Molenda, C. M., Sporbert, A., Zenkner, M., Schnoegl, S., Suenkel, C., Schneider, L. S., Rybak-Wolf, A., Kochnowsky, B., Byrne, L. M., Wild, E. J., Nielsen, J. E. & 4 others, Dittmar, G., Peters, O., Beule, D. & Wanker, E. E., 2023, In: Genome Medicine. 15, 1, 32 p., 50.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia

    GENetic Frontotemporal dementia Initiative (GENFI), G. F. D. I. (., 2023, In: Human Brain Mapping. 44, 7, p. 2684-2700 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients

    Mou, Y., Nandi, G., Mukte, S., Chai, E., Chen, Z., Nielsen, Jørgen Erik, Nielsen, T. T., Criscuolo, C., Blackstone, C., Fraidakis, M. J. & Li, X. J., 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 16 p., 72.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Endo-lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by CHMP2B mutation

    Toft, A., Sjödin, S., Simonsen, A. H., Ejlerskov, P., Roos, P., Musaeus, C. S., Henriksen, E. E., Nielsen, T. T., Brinkmalm, A., Blennow, K., Zetterberg, H. & Nielsen, Jørgen Erik, 2023, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 15, 1, 9 p., e12402.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Golgi fragmentation: One of the earliest organelle phenotypes in Alzheimer's disease neurons

    Haukedal, H., Corsi, G. I., Gadekar, V. P., Doncheva, N. T., Kedia, S., de Haan, N., Chandrasekaran, A., Jensen, P., Schiønning, P., Vallin, S., Marlet, F. R., Poon, A., Pires, C., Agha, F. K., Wandall, H. H., Cirera, S., Simonsen, A. H., Nielsen, T. T., Nielsen, J. E., Hyttel, P. & 7 others, Muddashetty, R., Aldana, Blanca, Gorodkin, Jan, Nair, D., Meyer, M., Larsen, M. R. & Freude, Kristine, 2023, In: Frontiers in Neuroscience. 17, 17 p., 1120086.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    On the association between apathy and deficits of social cognition and executive functions in Huntington's disease

    Hendel, Rebecca K., Hellem, M. N. N., Hjermind, L. E., Nielsen, Jørgen Erik & Vogel, Asmus, 2023, In: Journal of the International Neuropsychological Society. 29, 4, p. 369-376 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2022
  12. Published

    An Exploratory Study Investigating Autonomy in Huntington's Disease Gene Expansion Carriers

    Hendel, Rebecca K., Hellem, M. N. N., Hjermind, L. E., Nielsen, Jørgen Erik & Vogel, Asmus, 2022, In: Journal of Huntington's disease. 11, 4, p. 373-381 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    D13 Saliva biomarker discovery in Huntington’s disease

    Qvist, Filippa Liliendahl, Hellem, M. N., Nielsen, Jørgen Erik, Mann, Matthias & Skotte, Niels Henning, 2022, In: Journal of Neurology, Neurosurgery and Psychiatry. 93, Suppl. 1, p. A24-A25

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  14. Published

    Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients

    Hellem, M. N. N., Cheong, R. Y., Tonetto, S., Vinther-Jensen, T., Hendel, Rebecca K., Larsen, I. U., Nielsen, T. T., Hjermind, L. E., Vogel, Asmus, Budtz-Joergensen, Esben, Petersén, Å. & Nielsen, Jørgen Erik, 2022, In: Parkinsonism and Related Disorders. 99, p. 23-29 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Demens og bevægeforstyrrelser

    Hjermind, L. E. & Nielsen, Jørgen Erik, 2022, Forstå demens. 3 ed. Hans Reitzels Forlag, p. 75-81

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

  16. Published

    Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia

    Nielsen, E. N., Ásbjörnsdóttir, B., Møller, L. B., Nielsen, Jørgen Erik & Lindquist, Suzanne Granhøj, 2022, In: Cold Spring Harbor molecular case studies. 8, 6, a006236.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Increased Intrathecal Activity of Follicular Helper T Cells in Patients With Relapsing-Remitting Multiple Sclerosis

    Hansen, Rikke Holm, Talbot, J., Højsgaard Chow, H., Bredahl Hansen, M., Buhelt, S., Herich, S., Schwab, N., Hellem, M. N. N., Nielsen, Jørgen Erik, Sellebjerg, Finn Thorup & von Essen, Marina Rode, 2022, In: Neurology(R) neuroimmunology & neuroinflammation. 9, 5, 13 p., e200009.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia

    Karlsson, W. K., Højgaard, J. L. S., Vilhelmsen, A., Crone, C., Andersen, B., Law, Ian, Møller, L. B., Nielsen, T. T., Nielsen, E. N., Krag, T., Svenstrup, K. & Nielsen, Jørgen Erik, 2022, In: Cerebellum. 21, 3, p. 514-519 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Peripheral helper T cells in the pathogenesis of multiple sclerosis

    Hansen, R. H., Chow, H. H., Talbot, J., Buhelt, S., Hellem, M. N. N., Nielsen, Jørgen Erik, Sellebjerg, Finn Thorup & von Essen, M. R., 2022, In: Multiple Sclerosis Journal. 28, 9, p. 1340-1350 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Relationship between cerebrospinal fluid biomarkers of inflammation and tissue damage in primary progressive multiple sclerosis

    Talbot, J., Højsgaard Chow, H., Mahler, M., Buhelt, S., Hansen, Rikke Holm, Lundell, H., Vinther-Jensen, T., Hellem, M. N. N., Nielsen, Jørgen Erik, Siebner, Hartwig Roman, von Essen, Marina Rode & Sellebjerg, Finn Thorup, 2022, In: Multiple Sclerosis and Related Disorders. 68, 104209.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival

    Roos, P., Johannsen, P., Lindquist, Suzanne Granhøj, Brown, J. M., Waldemar, Gunhild, Duno, M., Nielsen, T. T., Budtz-Joergensen, Esben, Gydesen, S., Holm, I. E., Collinge, J., Isaacs, A. M. & Nielsen, Jørgen Erik, 2022, In: Acta Neurologica Scandinavica. 145, 5, p. 529-540 12 p.

    Research output: Contribution to journalReviewResearchpeer-review

  22. Published

    Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)

    Ásbjörnsdóttir, B., Henriksen, O. M., Lindquist, Suzanne Granhøj, Møller, L. B., Sidaros, A. & Nielsen, Jørgen Erik, 2022, In: BMJ Case Reports. 15, 3, e248228.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2021
  24. Published

    Endophenotypical drift in Huntington’s disease: a 5-year follow-up study

    Hellem, M. N. N., Hendel, Rebecca K., Vinther-Jensen, T., Larsen, I. U., Nielsen, T. T., Hjermind, L. E., Budtz-Joergensen, Esben, Vogel, Asmus & Nielsen, Jørgen Erik, Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 5 p., 340.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Intellectual Curiosity and Action Initiation are Subtypes of Apathy Affected in Huntington Disease Gene Expansion Carriers

    Hendel, Rebecca K., Hellem, M. N. N., Hjermind, L. E., Nielsen, Jørgen Erik & Vogel, Asmus, Dec 2021, In: Cognitive and Behavioral Neurology. 34, 4, p. 295-302

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity

    Perez, B. A., Shorrock, H. K., Banez-Coronel, M., Zu, T., Romano, L. E., Laboissonniere, L. A., Reid, T., Ikeda, Y., Reddy, K., Gomez, C. M., Bird, T., Ashizawa, T., Schut, L. J., Brusco, A., Berglund, J. A., Hasholt, Lis Frydenreich, Nielsen, Jørgen Erik, Subramony, S. H. & Ranum, L. P., 8 Nov 2021, In: EMBO Molecular Medicine. 13, 11, 15 p., e14095.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review

    Videbæk, C., Stokholm, J., Sengeløv, Henrik, Fjeldborg, L. U., Larsen, V. A., Krarup, Christian, Nielsen, Jørgen Erik & Grønborg, S., 2021, In: JIMD Reports. 60, 1, p. 96-104 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Astrocytic reactivity triggered by defective autophagy and metabolic failure causes neurotoxicity in frontotemporal dementia type 3

    Chandrasekaran, A., Dittlau, K. S., Corsi, G. I., Haukedal, H., Doncheva, N. T., Ramakrishna, S., Ambardar, S., Salcedo, C., Schmidt, S. I., Zhang, Y., Cirera, S., Pihl, M., Schmid, B., Nielsen, T. T., Nielsen, J. E., Kolko, M., Kobolák, J., Dinnyés, A., Hyttel, P., Palakodeti, D. & 5 others, Gorodkin, Jan, Muddashetty, R. S., Meyer, M., Aldana, Blanca & Freude, Kristine, 2021, In: Stem Cell Reports. 16, 11, p. 2736-2751

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Cortical Frontoparietal Network Dysfunction in CHMP2B-Frontotemporal Dementia

    Musaeus, C. S., Pedersen, J. S., Kjær, T. W., Johannsen, P., Waldemar, Gunhild, Haverberg, M. J. N., Bacher, T., Nielsen, Jørgen Erik, Roos, P. & The FReJA Consortium, T. F. C., 2021, In: Frontiers in Aging Neuroscience. 13, 714220.

    Research output: Contribution to journalJournal articleResearchpeer-review

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ID: 9689629