Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor

Member of:

  • Neurology


Publication year:
All
26 - 50 out of 149Page size: 25
  1. 2021
  2. Published

    Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

    Reus, L. M., Pasaniuc, B., Posthuma, D., Boltz, T., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Hernández, I., Ruiz, A. & 139 others, Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Waldö, M. L., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St. George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, James Benedict, Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., van der Zee, J., Van Broeckhoven, C., Cappa, S. F., Le Ber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, Jørgen Erik, Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A. L., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebert, F., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J., Momeni, P. & Ophoff, R. A., 2021, In: Biological Psychiatry. 89, 8, p. 825-835 11 p.

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

  3. Published

    Hybrid 2-[18F] FDG PET/MRI in premanifest Huntington's disease gene-expansion carriers: The significance of partial volume correction

    Hellem, M. N. N., Vinther-Jensen, T., Anderberg, L., Budtz-Joergensen, Esben, Hjermind, L. E., Larsen, V. A., Nielsen, Jørgen Erik & Law, Ian, 2021, In: PLoS ONE. 16, 6, 13 p., 0252683.

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

  4. Published

    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Dewan, R., Chia, R., Ding, J., Hickman, R. A., Stein, T. D., Abramzon, Y., Ahmed, S., Sabir, M. S., Portley, M. K., Tucci, A., Ibáñez, K., Shankaracharya, F. N. U., Keagle, P., Rossi, G., Caroppo, P., Tagliavini, F., Waldo, M. L., Johansson, P. M., Nilsson, C. F., Adeleye, A. & 38 others, Alba, C., Bacikova, D., Hupalo, D. N., Martinez, E. M. G., Pollard, H. B., Sukumar, G., Soltis, A. R., Tuck, M., Zhang, X., Wilkerson, M. D., Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S. D., Kost, J., Scotter, E. L., Kenna, K. P., Miller, J. W., Tiloca, C., Vance, C., Danielson, E. W., Troakes, C., Colombrita, C., Al-Sarraj, S., Lewis, E. A., Nielsen, Jørgen Erik, Hjermind, L. E., Reynolds, R. H., Rowe, James Benedict, The PROSPECT Consortium, T. P. C., The American Genome Center (TAGC), T. A. G. C. (., The FALS Sequencing Consortium, T. F. S. C., The Genomics England Research Consortium, T. G. E. R. C., The International ALS/FTD Genomics Consortium (iAFGC), T. I. A. G. C. (., The International FTD Genetics Consortium (IFGC), T. I. F. G. C. (., The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium, T. I. L. G. C. (. T. N. A. C. & the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank, T. U. O. M. B. A. T. B. A. N. N., 2021, In: Neuron. 109, 3, p. 448-460 13 p.

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

  5. 2020
  6. 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

  7. Published

    Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells

    Wardman, Jonathan Henry, Henriksen, E. E., Marthaler, A. G., Nielsen, Jørgen Erik & Nielsen, T. T., Apr 2020, In: Cerebellum (London, England). 19, 2, p. 165-181 17 p.

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

  8. Published

    Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease

    Essen, M. R., Hellem, M. N. N., Vinther‐jensen, T., Ammitzbøll, C., Hansen, R. H., Hjermind, L. E., Nielsen, T. T., Nielsen, Jørgen Erik & Sellebjerg, Finn Thorup, 2020, In: Annals of Neurology. 87, 2, p. 246-255

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

  9. Published

    Glutamate-glutamine homeostasis is perturbed in neurons and astrocytes derived from patient iPSC models of frontotemporal dementia

    Aldana, Blanca, Zhang, Y., Jensen, P., Chandrasekaran, Abinaya, Christensen, S. K., Nielsen, T. T., Nielsen, Jørgen Erik, Hyttel, P., Larsen, M. R., Waagepetersen, Helle S. & Freude, Kristine, 2020, In: Molecular Brain. 13, 1, 7 p., 125.

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

  10. Published

    Mania triggered by levodopa treatment in a patient with frontotemporal dementia caused by A C9orf72 repeat expansion: A case report

    Thorlacius-Ussing, G., Nielsen, Jørgen Erik, Law, Ian, Hansen, H. V. & Andersen, B. B., 2020, In: Clinical Neurology and Neurosurgery. 198, 3 p., 106147.

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

  11. Published

    Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

    Gao, Y., Wang, T., Yu, X., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A. & 31 others, Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Waldö, M. L., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., Rowe, J. B., Nielsen, Jørgen Erik, Hjermind, L. E. & International FTD-Genomics Consortium (IFGC), I. F. C. (., 2020, In: Scientific Reports. 10, 1, 12 p., 12184.

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

  12. Published

    Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

    Bech, S., Løkkegaard, Annemette, Nielsen, T. T., Nørremølle, Anne, Grønborg, S., Hasholt, Lis Frydenreich, Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, Niels, Mang, Y., Bak, M., Nielsen, Jørgen Erik, Eiberg, Hans Rudolf Lytchoff & Hjermind, L. E., 2020, In: Movement Disorders. 35, 12, p. 2343-2347

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

  13. 2019
  14. Published

    Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

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

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

  15. Published

    Dysregulation of FGFR signalling by a selective inhibitor reduces germ cell survival in human fetal gonads of both sexes and alters the somatic niche in fetal testes

    Harpelunde Poulsen, K., Nielsen, Jørgen Erik, Frederiksen, H., Melau, C., Juul Hare, K., Langhoff Thuesen, L., Perlman, S., Lundvall, L., Mitchell, R. T., Juul, Anders, Rajpert-De Meyts, E. & Jørgensen, Anders, 2019, In: Human Reproduction. 34, 11, p. 2228-2243 16 p.

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

  16. Published

    Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

    Nielsen, Jørgen Erik & International FTD-Genomics Consortium (IFGC), I. F. C. (., 2019, In: Scientific Reports. 9, 1, 10 p., 10854.

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

  17. Published

    Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

    International Frontotemporal Dementia Genomics Consortium, I. F. D. G. C., Ferrari, R., Rohrer, J. D., Ramasamy, A., Nielsen, Jørgen Erik, Hjermind, L. E., Lebouvier, T., Ferrucci, L. & Kapogiannis, D., 2019, In: Nature Medicine. 25, p. 152-164

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

  18. 2018
  19. Published

    Beneficial effect of intravenous immunoglobulin treatment in a patient with antiphospholipid syndrome associated chorea

    Dombernowsky, N. W., Nielsen, E. N., Law, Ian & Nielsen, Jørgen Erik, 2018, In: Journal of the Neurological Sciences. 390, p. 52-53 2 p.

    Research output: Contribution to journal › Comment/debate › Research

  20. Published

    CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers

    Rostgaard, N., Roos, P., Portelius, E., Blennow, K., Zetterberg, H., Simonsen, A. H. & Nielsen, Jørgen Erik, 2018, In: Neurology. 90, 2, p. e157-e163

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

  21. Published

    Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

    Chelban, V., Wiethoff, S., Fabian-Jessing, B. K., Haridy, N. A., Khan, A., Efthymiou, S., Becker, E. B. E., O'Connor, E., Hersheson, J., Newland, K., Hojland, A. T., Gregersen, P. A., Lindquist, Suzanne Granhøj, Petersen, M. B., Nielsen, Jørgen Erik, Nielsen, M., Wood, N. W., Giunti, P. & Houlden, H., 2018, In: Movement Disorders. 33, 7, p. 1119-1129 11 p.

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

  22. Published

    Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

    Broce, I., Karch, C. M., Wen, N., Fan, C. C., Wang, Y., Hong Tan, C., Kouri, N., Ross, O. A., Höglinger, G. U., Muller, U., Hardy, J., Momeni, P., Hess, C. P., Dillon, W. P., Miller, Z. A., Bonham, L. W., Rabinovici, G. D., Rosen, H. J., Schellenberg, G. D., Franke, A. & 31 others, Karlsen, T. H., Veldink, J. H., Ferrari, R., Yokoyama, J. S., Miller, B. L., Andreassen, O. A., Dale, A. M., Desikan, R. S., Sugrue, L. P., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Rowe, James Benedict, Nielsen, Jørgen Erik, Hjermind, L. E. & International FTD-Genomics Consortium, I. F. C., 2018, In: PLoS Medicine. 15, 1, 20 p., e1002487.

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

  23. Published

    Inflammatory markers of CHMP2B-mediated frontotemporal dementia

    Roos, P., von Essen, Marina Rode, Nielsen, T. T., Johannsen, P., Stokholm, J., Bie, A. S., Waldemar, Gunhild, Simonsen, A. H., Heslegrave, A., Zetterberg, H., FReJA Consortium, F. C., Sellebjerg, Finn Thorup & Nielsen, Jørgen Erik, 2018, In: Journal of Neuroimmunology. 324, p. 136-142 7 p.

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

  24. Published

    Positive association between cholesterol in human seminal plasma and sperm counts: results from a cross-sectional cohort study and immunohistochemical investigations

    de Neergaard, R., Nielsen, Jørgen Erik, Jørgensen, Anders, Toft, B. G., Goetze, J. P. & Jørgensen, N., 2018, In: Andrology. 6, 6, p. 817-828

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

  25. Published

    Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

    Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López De Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, Jørgen Erik, Ren, Y., Van Blitterswijk, M., Dejesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E., Lopez, O. L., Wong, T. H., Van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., Van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., 2018, In: The Lancet Neurology. 17, 6, p. 548-558

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

  26. Published

    Quality control for plasma and cerebrospinal fluid samples using mass spectrometry

    Skotte, N. H., Geyer, P. E., Steger, M., Treit, P. V., Voytik, E., Hellem, M. N., Nielsen, Jørgen Erik & Mann, Matthias, 2018, In: Journal of Neurology, Neurosurgery and Psychiatry. 89, p. A31-A32

    Research output: Contribution to journal › Conference abstract in journal › Research

  27. Published

    Quantitative Measurements of Motor Function in Alzheimer's Disease, Frontotemporal Dementia, and Dementia with Lewy Bodies: A Proof-of-Concept Study

    Kragh, F. J., Bruun, M., Budtz-Joergensen, Esben, Hjermind, L. E., Schubert, R., Reilmann, R., Nielsen, Jørgen Erik & Hasselbalch, Steen, 2018, In: Dementia and Geriatric Cognitive Disorders. 46, 3-4, p. 168-179 12 p.

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

  28. Published

    Sporadic Creutzfeldt-Jakob Disease in a Woman Married Into a Gerstmann-Sträussler-Scheinker Family: An Investigation of Prions Transmission via Microchimerism

    Areškeviciute, A., Melchior, L. C., Broholm, H., Krarup, L., Lindquist, Suzanne Granhøj, Johansen, P., McKenzie, N., Green, A., Nielsen, Jørgen Erik, Laursen, H. & Lund, Eva Løbner, 2018, In: Journal of Neuropathology and Experimental Neurology. 77, 8, p. 673-684 12 p.

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

  29. 2017
  30. Published

    Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation

    Ochalek, A., Mihalik, B., Avci, H. X., Chandrasekaran, Abinaya, Téglási, A., Bock, I., Giudice, M. L., Táncos, Z., Molnár, K., László, L., Nielsen, Jørgen Erik, Holst, B., Freude, Kristine, Hyttel, P., Kobolák, J. & Dinnyés, A., Dec 2017, In: Alzheimer's Research and Therapy. 9, 1, 19 p., 90.

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

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ID: 9689629