Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor

Member of:

  • Neurology


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  1. 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

  2. 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

  3. 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

  4. Published

    The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders

    Bech, S., Nørremølle, Anne, Winge, K., Hasholt, Lis Frydenreich, Tommerup, Niels, Svenstrup, K., Nielsen, Jørgen Erik & Hjermind, L. E., 1 Jun 2011, In: Parkinsonism & Related Disorders. 17, 5, p. 398-9 2 p.

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

  5. Published

    Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

    Bech, S., Petersen, T., Nørremølle, Anne, Gjedde, Albert, Ehlers, L., Eiberg, Hans Rudolf Lytchoff, Hjermind, L. E., Hasholt, Lis Frydenreich, Lundorf, E. & Nielsen, Jørgen Erik, 2010, In: Parkinsonism & Related Disorders. 16, 1, p. 12-5 3 p.

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

  6. 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

  7. Published

    Amyloid-related biomarkers and axonal damage proteins in parkinsonian syndromes

    Bech, S., Hjermind, L. E., Salvesen, Lisette, Nielsen, Jørgen Erik, Heegaard, N. H. H., Jørgensen, Henrik Løvendahl, Rosengren, L., Blennow, K., Zetterberg, H. & Winge, K., 2012, In: Parkinsonism & Related Disorders. 18, 1, p. 69-72 4 p.

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

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

  9. Published

    Huntington's disease does not appear to increase the risk of diabetes mellitus

    Boesgaard, T. W., Nielsen, T. T., Josefsen, K. E., Hansen, T., Jørgensen, T., Pedersen, O., Nørremølle, Anne, Nielsen, Jørgen Erik & Hasholt, Lis Frydenreich, 2009, In: Journal of Neuroendocrinology. 21, 9, p. 770-6 6 p.

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

  10. 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

  11. 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

  12. 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

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

  14. 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

  15. 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, Jørgen Erik, Asante, E. A., Collinge, J. & Isaacs, A. M., Oct 2015, In: Acta Neuropathologica. 130, 4, p. 511-523 13 p.

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

  16. Published

    Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation

    Clayton, E. L., Mancuso, R., Nielsen, T. T., Mizielinska, S., Holmes, H., Powell, N., Norona, F., Larsen, J. O., Milioto, C., Wilson, K. M., Lythgoe, M. F., Ourselin, S., Nielsen, Jørgen Erik, Johannsen, P., Holm, I., Collinge, J., Oliver, P. L., Gomez-Nicola, D. & Isaacs, A. M., 2017, In: Human Molecular Genetics. 26, 5, p. 873-887 15 p.

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

  17. Published

    Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

    Cornelius, N., Wardman, J. H., Hargreaves, I. P., Neergheen, V., Bie, A. S., Tümer, Asuman Zeynep, Nielsen, Jørgen Erik & Nielsen, T. T., May 2017, In: Mitochondrion. 34, p. 103-114 12 p.

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

  18. 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

  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

    Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

    Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Korbo, L., Nielsen, I., Svenstrup, K., Bech, S., Pinborg, L., Friberg, L., Hjermind, L., Olsen, O. & Nielsen, Jørgen Erik, Nov 2012, In: Clinical Genetics. 82, 3, p. 256-63 8 p.

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

  21. 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

  22. 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

  23. Published

    Frontotemporal dementia and its subtypes: a genome-wide association study

    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., Borroni, B., Padovani, A. & 138 others, 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. 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, J. B., 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., Deschamps, W., Van Langenhove, T., Cruts, M., 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., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebert, F., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J. & Momeni, P., Jul 2014, In: Lancet Neurology. 13, 7, p. 686-99 14 p.

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

  24. 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

  25. 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

  26. Published

    No difference between alfacalcidol and paricalcitol in the treatment of secondary hyperparathyroidism in hemodialysis patients: a randomized crossover trial

    Hansen, D., Rasmussen, K., Danielsen, H., Meyer-Hofmann, H., Bacevicius, E., Lauridsen, T. G., Madsen, J. K., Tougaard, B. G., Marckmann, P., Thye-Roenn, P., Nielsen, Jørgen Erik, Kreiner, Svend & Brandi, Lisbet, Oct 2011, In: Kidney International. 80, 8, p. 841-850 10 p.

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

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

  28. Published

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

    Hansen, S. K., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., May 2016, In: Stem Cell Research. 16, 3, p. 553-556 4 p.

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

  29. Published

    Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3

    Hansen, S. K., Stummann, T. C., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Daechsel, J. C. A., Fog, K. & Hyttel, P., Sep 2016, In: Stem Cell Research. 17, 2, p. 306-317 12 p.

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

  30. Published

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

    Hansen, S. K., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., May 2016, In: Stem Cell Research. 16, 3, p. 589-592 4 p.

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

  31. 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

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

  33. 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

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

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

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

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

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

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

  40. Published

    [Hereditary Parkinson disease. The Danish Society of Movement Disorders]

    Hjermind, L. E. & Nielsen, Jørgen Erik, 2008, In: Ugeskrift for læger. 170, 12, p. 1016-

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

  41. Published

    Huntington's disease: effect of memantine on FDG-PET brain metabolism?

    Hjermind, L. E., Law, Ian, Jønch, A., Stokholm, J. & Nielsen, Jørgen Erik, 2011, In: The Journal of Neuropsychiatry and Clinical Neurosciences. 23, 2, p. 206-10 5 p.

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

  42. 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 proceeding › Book chapter › Communication

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

  44. Published

    Frontotemporal dementia caused by CHMP2B mutations

    Isaacs, A. M., Johannsen, P., Holm, I., Nielsen, Jørgen Erik & FReJA Consortium, F. C., May 2011, In: Current Alzheimer Research. 8, 3, p. 246-51 6 p.

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

  45. Published

    Evolution of cerebral PET glucose metabolism from presymptomatic to symtomatic frontotemporal dementia linked to chromosome 3 (FTD-3) - a voxel based SPM analysis

    Johannsen, P., Law, Ian, Hansen, C., Roos, P., Stokholm, Jakob, Isaacs, A. M., Brown, J. & Nielsen, Jørgen Erik, Aug 2016, In: Journal of Neurochemistry. 138, S1, p. 375-375

    Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

  46. Published

    Reduced gluconeogenesis and lactate clearance in Huntington's disease

    Josefsen, K., Nielsen, S. M. B., Campos, A., Seifert, T., Hasholt, Lis Frydenreich, Nielsen, Jørgen Erik, Nørremølle, Anne, Skotte, Niels Henning, Secher, Niels H. & Quistorff, B., 1 Dec 2010, In: Neurobiology of Disease. 40, 3, p. 656-62 7 p.

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

  47. Published

    Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

    Jønch, A. E., Danielsen, E. R., Thomsen, C., Meden, Per, Svenstrup, K. & Nielsen, Jørgen Erik, 26 Sep 2012, In: B M C Neurology. 12, 108, 4 p.

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

  48. Published

    Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

    Jønch, A. E., Grønskov, K., Carlsen Lunding, J. M., Nielsen, Jørgen Erik & Brøndum-Nielsen, K., 23 Jun 2014, In: Ugeskrift for Laeger. 176, 26, p. 2-6 5 p., V02140099.

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

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

  50. 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

  51. Published

    Social Cognition, Executive Functions and Self-Report of Psychological Distress in Huntington's Disease

    Larsen, I. U., Vinther-Jensen, T., Nielsen, Jørgen Erik, Gade, A. & Vogel, Asmus, 28 Dec 2016, In: PLoS Currents. 8, p. 1-20

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

  52. Published

    Personality Traits in Huntington's Disease: An Exploratory Study of Gene Expansion Carriers and Non-Carriers

    Larsen, I. U., Mortensen, Erik Lykke, Vinther-Jensen, T., Nielsen, Jørgen Erik, Knudsen, Gitte Moos & Vogel, Asmus, Dec 2016, In: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics. 171, 8, p. 1153-1160 8 p.

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

  53. Published

    Do I misconstrue? Sarcasm detection, emotion recognition, and Theory of Mind in Huntington disease

    Larsen, I. U., Vinther-Jensen, T., Gade, A., Nielsen, Jørgen Erik & Vogel, A. M., 2016, In: Neuropsychology. 30, 2, p. 181-189

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

  54. 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. & 22 others, 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), P. S. O. T. H. S. G. (., Mar 2012, In: Neurology. 78, 10, p. 690-5 6 p.

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

  55. Published

    Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

    Lesca, G., Boutry-Kryza, N., de Toffol, B., Milh, M., Steschenko, D., Lemesle-Martin, M., Maillard, L., Foletti, G., Rudolf, G., Nielsen, J. E., á Rogvi-Hansen, B., Erdal, J., Mancini, J., Thauvin-Robinet, C., M'Rrabet, A., Ville, D., Szepetowski, P., Raffo, E., Hirsch, E., Ryvlin, P. & 2 others, Calender, A. & Genton, P., 1 Sep 2010, In: Epilepsia. 51, 9, p. 1691-8 8 p.

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

  56. Published

    Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1

    Li, T., Pires, C., Nielsen, T. T., Waldemar, Gunhild, Hjermind, L. E., Nielsen, Jørgen Erik, Dinnyes, A., Holst, B., Hyttel, P. & Freude, Kristine, Mar 2016, In: Stem Cell Research. 16, 2, p. 334-337 4 p.

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

  57. Published

    Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1

    Li, T., Pires, C., Nielsen, T. T., Waldemar, Gunhild, Hjermind, L. E., Nielsen, Jørgen Erik, Dinnyes, A., Hyttel, P. & Freude, Kristine, Mar 2016, In: Stem Cell Research. 16, 2, p. 229-332 4 p.

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

  58. Published

    Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort

    Lindquist, Suzanne Granhøj, Schwartz, M., Batbayli, M., Waldemar, Gunhild & Nielsen, Jørgen Erik, 2009, In: Clinical Genetics. 76, 2, p. 205-9 4 p.

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

  59. 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

  60. Published

    A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

    Lindquist, S. G., Møller, L. B., Dali, C. I., Marner, L., Kamsteeg, E. J., Nielsen, Jørgen Erik & Hjermind, L. E., Feb 2017, In: Cerebellum. 16, 1, p. 268-271 4 p.

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

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

  62. Published

    Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI

    Lunau, L. A., Mouridsen, K., Rodell, A., Ostergaard, L., Nielsen, Jørgen Erik, Isaacs, A., Johannsen, P. & The FReJA Consortium, T. F. C., Mar 2012, In: BMJ Open. 2, 2

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

  63. Published

    Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H196

    Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, Jørgen Erik, Nielsen, T. T. & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 162-165 4 p.

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

  64. Published

    Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196

    Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Hyttel, P., Nielsen, T. T., Nielsen, Jørgen Erik & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 199-201 3 p.

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

  65. Published

    Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271

    Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, Jørgen Erik, Nielsen, T. T. & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 180-183 4 p.

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

  66. Published

    Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266

    Marthaler, A. G., Tubsuwan, A., Schmid, B., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, T. T., Nielsen, Jørgen Erik & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 202-205 4 p.

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

  67. Published

    Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271

    Marthaler, A. G., Tubsuwan, A., Schmid, B., Poulsen, U. B., Hyttel, P., Nielsen, Jørgen Erik, Nielsen, T. T. & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 159-161 3 p.

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

  68. Published

    Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266

    Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Hyttel, P., Nielsen, T. T., Nielsen, Jørgen Erik & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 166-169 4 p.

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

  69. Published

    The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

    Metzger, S., Walter, C., Riess, O., Roos, R. A. C., Nielsen, Jørgen Erik, Craufurd, D., Nguyen, H. P. & REGISTRY Investigators of the European Huntington’s Disease Network, R. I. O. T. E. H. D. N., Jul 2013, In: PLOS ONE. 8, 7, p. e68951

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

  70. Published

    Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

    Minocherhomji, S., Hansen, C., Kim, H., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, Hans Rudolf Lytchoff, Doh, G. D., Møllgård, Kjeld, Hertz, J. M., Nielsen, Jørgen Erik, Ropers, H., Tümer, Asuman Zeynep, Tommerup, Niels, Kalscheuer, V. M. & Silahtaroglu, Asli, 1 Dec 2014, In: Human Molecular Genetics. 23, 23, p. 6163-6176 14 p.

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

  71. Published

    Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

    Mosbech, M., Olsen, A. S. B., Neess, D., Ben-David, O., Klitten, L. L., Larsen, J., Sabers, A., Vissing, John, Nielsen, Jørgen Erik, Hasholt, Lis Frydenreich, Klein, A. D., Tsoory, M. M., Hjalgrim, H., Tommerup, Niels, Futerman, A. H., Møller, R. S. & Færgeman, N. J., 28 Feb 2014, In: Annals of Clinical and Translational Neurology. 1, 2, p. 88-98 11 p.

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

  72. 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

  73. 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

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

  75. Published

    Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    Nielsen, Jørgen Erik, Koefoed, P., Kjaergaard, S., Jensen, L. N., Nørremølle, Anne & Hasholt, Lis Frydenreich, 2004, In: Prenatal Diagnosis. 24, 5, p. 363-6 3 p.

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

  76. Published

    Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family.

    Nielsen, Jørgen Erik, Sørensen, S. A., Hasholt, Lis Frydenreich & Nørremølle, Anne, 1996, In: Movement Disorders. 11, 5, p. 533-541 9 p.

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

  77. Published

    Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

    Nielsen, Jørgen Erik, Johnson, B., Koefoed, P., Scheuer, K. H., Grønbech-Jensen, M., Law, I., Krabbe, K., Nørremølle, Anne, Eiberg, Hans Rudolf Lytchoff, Søndergård, H., Dam, M., Rehfeld, J. F., Krarup, C., Paulson, Olaf B., Hasholt, Lis Frydenreich & Sørensen, S. A., 2004, In: European Journal of Neurology. 11, 12, p. 817-824 8 p.

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

  78. Published

    Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

    Nielsen, S. M. B., Vinther-Jensen, T., Nielsen, Jørgen Erik, Nørremølle, Anne, Hasholt, Lis Frydenreich, Hjermind, L. E. & Josefsen, K., 15 Mar 2016, In: Journal of the Neurological Sciences. 362, p. 326-332 7 p.

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

  79. Published

    Behavioral variant of frontotemporal dementia mimicking Huntington's disease

    Nielsen, T. R., Bruhn, P., Nielsen, Jørgen Erik & Hjermind, L. E., 2010, In: International Psychogeriatrics. 22, 4, p. 674-7 3 p.

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

  80. Published

    Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort

    Nielsen, T. T., Svenstrup, K., Duno, M. & Nielsen, Jørgen Erik, Jan 2014, In: Spinal Cord. 52, 1, p. 77-79 3 p.

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

  81. Published

    Antisense gene silencing: therapy for neurodegenerative disorders?

    Nielsen, T. T. & Nielsen, Jørgen Erik, 10 Sep 2013, In: Genes. 4, 3, p. 457-84 28 p.

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

  82. Published

    ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

    Nielsen, T. T., Svenstrup, K., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Hasholt, Lis Frydenreich & Nielsen, Jørgen Erik, Oct 2012, In: Journal of the Neurological Sciences. 321, 1-2, p. 100-2 3 p.

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

  83. Published

    Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference

    Nielsen, T. T., Mizielinska, S., Hasholt, Lis Frydenreich, Isaacs, A. M., Nielsen, Jørgen Erik & the FReJA Consortium, T. F. C., Aug 2012, In: Journal of Gene Medicine. 14, 8, p. 521-529 9 p.

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

  84. 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, T. T., Mardosiene, S., Løkkegaard, Annemette, Stokholm, J., Ehrenfels, S., Bech, S., Friberg, L., Nielsen, J. K. & Nielsen, Jørgen Erik, Aug 2012, In: B M C Neurology. 12, p. 73

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

  85. Published

    Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene

    Nimsanor, N., Kitiyanant, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, Jørgen Erik, Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B., Nov 2016, In: Stem Cell Research. 17, 3, p. 556-559 4 p.

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

  86. Published

    Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene

    Nimsanor, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, Jørgen Erik, Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B., Nov 2016, In: Stem Cell Research. 17, 3, p. 576-579 4 p.

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

  87. Published

    Generation of an isogenic, gene-corrected iPSC line from a pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene

    Nimsanor, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, Jørgen Erik, Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B., Nov 2016, In: Stem Cell Research. 17, 3, p. 600-602 3 p.

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

  88. Published

    Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia

    Nimsanor, N., Jørring, I., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Kitiyanant, N., Nielsen, Jørgen Erik, Nielsen, T. T., Hyttel, P., Holst, B. & Schmid, B., Nov 2016, In: Stem Cell Research. 17, 3, p. 564-567 4 p.

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

  89. Published

    4p16.3 haplotype modifying age at onset of Huntington disease

    Nørremølle, Anne, Budtz-Joergensen, Esben, Fenger, K., Nielsen, Jørgen Erik, Sørensen, S. A. & Hasholt, Lis Frydenreich, 2009, In: Clinical Genetics. 75, 3, p. 244-50 6 p.

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

  90. 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

  91. Published

    Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

    Orth, M., Handley, O. J., Schwenke, C., Dunnett, S., Wild, E. J., Tabrizi, S. J., Landwehrmeyer, G. B., Hasholt, Lis Frydenreich, Hjermind, L. E., Nørremølle, Anne, Nielsen, Jørgen Erik & European Huntington's Disease Network, E. H. D. N., 2011, In: The Egyptian Journal of Neurology, Psychiatry, and Neurosurgery. 82, 12, p. 1409-12 4 p.

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

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

  93. Published

    Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

    Petersen, M. H., Budtz-Joergensen, Esben, Sørensen, S. A., Nielsen, Jørgen Erik, Hjermind, L. E., Vinther-Jensen, T., Nielsen, S. M. B. & Nørremølle, Anne, 2014, In: Mitochondrion. 17, p. 14-21 8 p.

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

  94. Published

    Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1

    Pires, C., Schmid, B., Petræus, C., Poon, A. F., Nimsanor, N., Nielsen, T. T., Waldemar, Gunhild, Hjermind, L. E., Nielsen, Jørgen Erik, Hyttel, P. & Freude, Kristine, Sep 2016, In: Stem Cell Research. 17, 2, p. 285-288 4 p.

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

  95. Published

    Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1

    Poon, A. F., Li, T., Pires, C., Nielsen, T. T., Nielsen, Jørgen Erik, Holst, B., Dinnyes, A., Hyttel, P. & Freude, Kristine, Nov 2016, In: Stem Cell Research. 17, 3, p. 470-473 4 p.

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

  96. Published

    Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

    Poon, A. F., Schmid, B., Pires, C., Nielsen, T. T., Hjermind, L. E., Nielsen, Jørgen Erik, Holst, B., Hyttel, P. & Freude, Kristine, Nov 2016, In: Stem Cell Research. 17, 3, p. 466-469 4 p.

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

  97. 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

  98. Published

    A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

    Puschmann, A., Ross, O. A., Vilariño-Güell, C., Lincoln, S. J., Kachergus, J. M., Cobb, S. A., Lindquist, Suzanne Granhøj, Nielsen, Jørgen Erik, Wszolek, Z. K., Farrer, M., Widner, H., van Westen, D., Hägerström, D., Markopoulou, K., Chase, B. A., Nilsson, K., Reimer, J. & Nilsson, C., 2009, In: Parkinsonism & Related Disorders. 15, 9, p. 627-32 5 p.

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

  99. Published

    Discrepancies in reporting the CAG repeat lengths for Huntington's disease

    Quarrell, O. W., Handley, O., O'Donovan, K., Dumoulin, C., Ramos-Arroyo, M., Biunno, I., Bauer, P., Kline, M., Landwehrmeyer, G. B., Hjermind, L. E., Hasholt, Lis Frydenreich, Nørremølle, Anne, Nielsen, Jørgen Erik & European Huntington’s Disease Network, E. H. D. N., Aug 2011, In: European Journal of Human Genetics. 20, 1, p. 20-6 7 p.

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

  100. 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 journal › Conference abstract in journal › Research › peer-review

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