Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor

Member of:

  • Neurology


Publication year:
All
1 - 100 out of 149Page size: 100
  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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 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

    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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Conference abstract in journal › Research › peer-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 journal › Journal article › Research › peer-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 proceeding › Book chapter › Communication

  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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Review › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-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 journal › Journal article › Research › peer-review

  30. 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

  31. 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

  32. 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

  33. 2020
  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 2019
  42. 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

  43. 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

  44. 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

  45. 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

  46. 2018
  47. 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

  48. 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

  49. 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

  50. 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

  51. 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

  52. 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

  53. 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

  54. 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

  55. 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

  56. 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

  57. 2017
  58. 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

  59. Published

    TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)

    Rostgaard, N., Roos, P., Budtz-Joergensen, Esben, Johannsen, P., Waldemar, Gunhild, Nørremølle, Anne, Lindquist, S. G., Gydesen, S., Brown, J. M., Collinge, J., Isaacs, A. M., Nielsen, T. T., Nielsen, Jørgen Erik & FReJA collaboration, F. C., Nov 2017, In: Neurobiology of Aging. 59, p. 221.e1-221.e7 7 p.

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

  60. 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

  61. Published

    Hereditary cerebral small vessel disease and stroke

    Søndergaard, C. B., Nielsen, Jørgen Erik, Hansen, C. K. & Christensen, Hanne Krarup, Apr 2017, In: Clinical Neurology and Neurosurgery. 155, p. 45-57 13 p.

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

  62. 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

  63. Published

    SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy

    Svenstrup, K., Nielsen, T. T., Aidt, F., Rostgaard, N., Duno, M., Wibrand, F., Vinther-Jensen, T., Law, Ian, Vissing, John, Roos, P., Hjermind, L. E. & Nielsen, Jørgen Erik, Feb 2017, In: The Cerebellum. 16, 1, p. 62-67 6 p.

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

  64. 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

  65. Published

    Defining active progressive multiple sclerosis

    Sellebjerg, Finn Thorup, Börnsen, L., Ammitzbøll, C., Nielsen, Jørgen Erik, Vinther-Jensen, T., Hjermind, L. E., von Essen, M., Ratzer, R. L., Sørensen, Per Soelberg & Romme Christensen, J., 2017, In: Multiple Sclerosis. 23, 13, p. 1727-1735

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

  66. 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

  67. Published

    Patient iPSC-derived neurons for disease modeling of frontotemporal dementia with mutation in CHMP2B

    Zhang, Y., Schmid, B., Qas Younan, N. K., Rasmussen, M. A., Garcia, B. I. A., Agger, M., Callø, K., Stummann, T. C., Larsen, H. M., Nielsen, T. T., Huang, J., Xu, F., Liu, X., Bolund, L., Meyer, M., Bak, L. K., Waagepetersen, H. S., Luo, Y., Nielsen, J. E., Consortium, T. FRA. & 4 others, Holst, B., Clausen, C., Hyttel, P. & Freude, Kristine, 2017, In: Stem Cell Reports. 8, 3, p. 648-658

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

  68. 2016
  69. 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

  70. 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

  71. Published

    Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease

    Vinther-Jensen, T., Börnsen, L. S., Budtz-Joergensen, Esben, Ammitzboll, C., Larsen, I. U., Hjermind, L. E., Sellebjerg, Finn Thorup & Nielsen, Jørgen Erik, Dec 2016, In: Neurology: Neuroimmunology & Neuroinflammation. 3, 6, e287.

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

  72. 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

  73. 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

  74. 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

  75. 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

  76. 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

  77. 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

  78. 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

  79. 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

  80. 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

  81. Published

    TMEM106B and APOE as genetic modifiers of FTD-3 in the Danish CHMP2B family

    Roos, P., Rostgaard, N., Johannsen, P., Brown, J. M., Isaacs, A. M., Waldemar, G., Nielsen, T. T. & Nielsen, Jørgen Erik, Aug 2016, In: Journal of Neurochemistry. 138, S1, p. 319-320

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

  82. Published

    Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B

    Zhang, Y., Schmid, B., Nielsen, T. T., Nielsen, Jørgen Erik, Clausen, C., Hyttel, P., Holst, B. & Freude, Kristine, Jul 2016, In: Stem Cell Research. 17, 1, p. 148-150 3 p.

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

  83. 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

  84. 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

  85. 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

  86. 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

  87. 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

  88. 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

  89. 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

  90. 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

  91. Published

    Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1

    Tubsuwan, A., Pires, C., Rasmussen, M. A., Schmid, B., Nielsen, Jørgen Erik, Hjermind, L. E., Hall, Vanessa Jane, Nielsen, T. T., Waldemar, Gunhild, Hyttel, P., Clausen, C., Kitiyanant, N., Freude, Kristine & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 110-112 3 p.

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

  92. 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

  93. 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

  94. 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

  95. Published

    Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT)

    Rasmussen, M. A., Hjermind, L. E., Hasholt, Lis Frydenreich, Waldemar, Gunhild, Nielsen, Jørgen Erik, Clausen, C., Hyttel, P. & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 75-78 4 p.

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

  96. 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

  97. Published

    Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B

    Zhang, Y., Schmid, B., Nielsen, T. T., Nielsen, Jørgen Erik, Clausen, C., Hyttel, P., Holst, B. & Freude, Kristine, 2016, In: Stem Cell Research. 17, 1, p. 151-153 3 p.

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

  98. Published

    Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT)

    Rasmussen, M. A., Hjermind, L. E., Hasholt, Lis Frydenreich, Waldemar, Gunhild, Nielsen, Jørgen Erik, Clausen, C., Hyttel, P. & Holst, B., 2016, In: Stem Cell Research. 16, 1, p. 70-74 5 p.

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

  99. Published

    Induced pluripotent stem cells (iPSCs) derived from af pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia

    Rasmussen, M. A., Hjermind, L. E., Hasholt, Lis Frydenreich, Waldemar, Gunhild, Nielsen, Jørgen Erik, Clausen, C., Hyttel, P. & Holst, B., 2016, In: Stem Cell Research. 16, 1, p. 105-109 5 p.

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

  100. 2015
  101. 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

  102. Published

    Ubiquitin: a potential cerebrospinal fluid progression marker in Huntington's disease

    Vinther-Jensen, T., Simonsen, A. H., Budtz-Joergensen, Esben, Hjermind, L. E. & Nielsen, Jørgen Erik, Oct 2015, In: European Journal of Neurology. 22, 10, p. 1378-1384 7 p.

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

  103. Published

    Assessing Impairment of Executive Function and Psychomotor Speed in Premanifest and Manifest Huntington's Disease Gene-expansion Carriers

    Unmack Larsen, I., Vinther-Jensen, T., Gade, A., Nielsen, Jørgen Erik & Vogel, Asmus, Mar 2015, In: Journal of the International Neuropsychological Society. 21, 3, p. 193-202 10 p.

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

  104. 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

  105. 2014
  106. 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

  107. Published

    YKL-40 in cerebrospinal fluid in Huntington's disease--a role in pathology or a nonspecific response to inflammation?

    Vinther-Jensen, T., Budtz-Joergensen, Esben, Simonsen, A. H., Nielsen, Jørgen Erik & Hjermind, L. E., Nov 2014, In: Parkinsonism & Related Disorders. 20, 11, p. 1301-3 3 p.

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

  108. Published

    A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntingtons disease

    Vinther-Jensen, T., Larsen, I. U., Hjermind, L. E., Budtz-Joergensen, Esben, Nielsen, T. T., Nørremølle, Anne, Nielsen, Jørgen Erik & Vogel, Asmus, 17 Jul 2014, In: Orphanet Journal of Rare Diseases. 9, 1, p. 1-9 9 p., 114.

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

  109. 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

  110. 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

  111. Published

    CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A

    Roos, P., Svenstrup, K., Danielsen, E. R., Thomsen, C. & Nielsen, Jørgen Erik, May 2014, In: Acta Neurologica Scandinavica. 129, 5, p. 330-4 5 p.

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

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ID: 9689629