Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor

Member of:

  • Neurology


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  1. Published

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

    Lindquist, S., Duno, M., Batbayli, M., Puschmann, A., Braendgaard, H., Mardosiene, S., Svenstrup, K., Pinborg, L., Vestergaard, K., Hjermind, L., Stokholm, J., Andersen, B., Johannsen, P. & Nielsen, Jørgen Erik, Mar 2013, In: Clinical Genetics. 83, 3, p. 279-283 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers

    Eskildsen, S. F., Østergaard, L. R., Rodell, A. B., Østergaard, L., Nielsen, Jørgen Erik, Isaacs, A. M. & Johannsen, P., 2008, In: NeuroImage. 45, 3, p. 713-21 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. 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 journal › Journal article › Research › peer-review

  4. Published

    Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: A longitudinal prospective study

    Stokholm, J., Teasdale, T. W., Johannsen, P., Nielsen, Jørgen Erik, Nielsen, T. T., Isaacs, A., Brown, J. M., Gade, A. & and the Frontotemporal dementia Research in Jutland Association (FReJA) consortium, A. T. F. D. R. I. J. A. (. C., Feb 2013, In: Journal of Neurology, Neurosurgery and Psychiatry. 84, 2, p. 170-176 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

    Roux, T., Barbier, M., Papin, M., Davoine, C. S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Van Maldergen, L., van Broeckhoven, C., Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A. & 31 others, Durr, A., Durr, A., Stevanin, G., Brice, A., Darios, F., Forlani, S., Site, P. S., Banneau, G., Cazeneuve, C., Charles, P., Duyckaerts, C., Fontaine, B., Azulay, J. P., Boesfplug-Tanguy, O., Goizet, C., Hannequin, D., Hazan, J., Burgo, A., Verny, C., Koenig, M., Labauge, P., Marelli, C., N’guyen, K., Rodriguez, Diana Jimenez Thomas, Belarbi, S., Hamri, A., Tazir, M., Boesch, S., Nielsen, Jørgen Erik, Svenstrup, K. & SPATAX network, S. N., 1 Nov 2020, In: Genetics in Medicine. 22, 11, p. 1851-1862 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

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

    Gavassini, B. F., Carboni, N., Nielsen, Jørgen Erik, 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, John & Pegoraro, E., Nov 2011, In: Muscle & Nerve. 44, 5, p. 703-9 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-review

  8. Published

    Characterization of energy and neurotransmitter metabolism in cortical glutamatergic neurons derived from human induced pluripotent stem cells: A novel approach to study metabolism in human neurons

    Aldana, Blanca, Zhang, Y., Lihme, M. F., Bak, Lasse Kristoffer, Nielsen, Jørgen Erik, Holst, B., Hyttel, P., Freude, Kristine & Waagepetersen, Helle S., 2017, In: Neurochemistry International. 106, p. 48-61

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia

    Rostgaard, N., Waldemar, Gunhild, Nielsen, Jørgen Erik & Simonsen, A. H., 2015, In: Dementia and Geriatric Cognitive Disorders. 40, 1-2, p. 54-62 9 p.

    Research output: Contribution to journal › Review › Research › peer-review

  10. 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 journal › Journal article › Research › peer-review

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