Jørgen Erik Nielsen

2024

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, A. R. & Nielsen, J. E., Apr 2024, In: Cerebellum. 23, 2, p. 861-871 11 p.

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

2 Citations (Scopus)

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

Manzoni, C., Kia, D. A., Ferrari, R., Leonenko, G., Costa, B., Saba, V., Jabbari, E., Tan, M. M., Albani, D., Alvarez, V., Alvarez, I., Andreassen, O. A., Angiolillo, A., Arighi, A., Baker, M., Benussi, L., Bessi, V., Binetti, G., Blackburn, D. J. & Boada, M. & 117 others, Boeve, B. F., Borrego-Ecija, S., Borroni, B., Bråthen, G., Brooks, W. S., Bruni, A. C., Caroppo, P., Bandres-Ciga, S., Clarimon, J., Colao, R., Cruchaga, C., Danek, A., de Boer, S. C., de Rojas, I., di Costanzo, A., Dickson, D. W., Diehl-Schmid, J., Dobson-Stone, C., Dols-Icardo, O., Donizetti, A., Dopper, E., Durante, E., Ferrari, C., Forloni, G., Frangipane, F., Fratiglioni, L., Kramberger, M. G., Galimberti, D., Gallucci, M., García-González, P., Ghidoni, R., Giaccone, G., Graff, C., Graff-Radford, N. R., Grafman, J., Halliday, G. M., Hernandez, D. G., Hjermind, L. E., Hodges, J. R., Holloway, G., Huey, E. D., Illán-Gala, I., Josephs, K. A., Knopman, D. S., Kristiansen, M., Kwok, J. B., Leber, I., Leonard, H. L., Libri, I., Lleo, A., Mackenzie, I. R., Madhan, G. K., Maletta, R., Marquié, M., Maver, A., Menendez-Gonzalez, M., Milan, G., Miller, B. L., Morris, C. M., Morris, H. R., Nacmias, B., Newton, J., Nielsen, J. E., Nilsson, C., Novelli, V., Padovani, A., Pal, S., Pasquier, F., Pastor, P., Perneczky, R., Peterlin, B., Petersen, R. C., Piguet, O., Pijnenburg, Y. A., Puca, A. A., Rademakers, R., Rainero, I., Reus, L. M., Richardson, A. M., Riemenschneider, M., Rogaeva, E., Rogelj, B., Rollinson, S., Rosen, H., Rossi, G., Rowe, J. B., Rubino, E., Ruiz, A., Salvi, E., Sanchez-Valle, R., Sando, S. B., Santillo, A. F., Saxon, J. A., Schlachetzki, J. C., Scholz, S. W., Seelaar, H., Seeley, W. W., Serpente, M., Sorbi, S., Sordon, S., St George-Hyslop, P., Thompson, J. C., Van Broeckhoven, C., Van Deerlin, V. M., Van der Lee, S. J., Van Swieten, J., Tagliavini, F., van der Zee, J., Veronesi, A., Vitale, E., Waldo, M. L., Yokoyama, J. S., Nalls, M. A., Momeni, P., Singleton, A. B., Hardy, J. & Escott-Price, V., 11 Jul 2024, In: American Journal of Human Genetics. 111, 7, p. 1316-1329 14 p.

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

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

Hendel, R. K., Hellem, M. N. N., Larsen, I. U., Vinther-Jensen, T., Hjermind, L. E., Nielsen, J. E. & Vogel, A., 2024, In: Applied neuropsychology. Adult. 31, 5, p. 777-786 10 p.

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

2023

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., 20 Jul 2023, In: Genome Medicine. 15, 1, 50.

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

Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia

Bussy, A., Levy, J. P., Best, T., Patel, R., Cupo, L., Van Langenhove, T., Nielsen, J. E., Pijnenburg, Y., Waldö, M. L., Remes, A. M., Schroeter, M. L., Santana, I., Pasquier, F., Otto, M., Danek, A., Levin, J., Le Ber, I., Vandenberghe, R., Synofzik, M. & Moreno, F. & 24 others, de Mendonça, A., Sanchez-Valle, R., Laforce, R., Langheinrich, T., Gerhard, A., Graff, C., Butler, C. R., Sorbi, S., Jiskoot, L., Seelaar, H., van Swieten, J. C., Finger, E., Tartaglia, M. C., Masellis, M., Tiraboschi, P., Galimberti, D., Borroni, B., Rowe, J. B., Bocchetta, M., Rohrer, J. D., Devenyi, G. A., Chakravarty, M. M., Ducharme, S. & GENetic Frontotemporal dementia Initiative (GENFI), May 2023, In: Human Brain Mapping. 44, 7, p. 2684-2700 17 p.

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

2 Citations (Scopus)

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, J. E., Nielsen, T. T., Criscuolo, C., Blackstone, C., Fraidakis, M. J. & Li, X.-J., 6 Apr 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 72.

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

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, J. E., 2023, In: Alzheimer's & dementia (Amsterdam, Netherlands). 15, 1, e12402.

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

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, B. I., Gorodkin, J., Nair, D., Meyer, M., Larsen, M. R. & Freude, K., 2023, In: Frontiers in Neuroscience. 17, 1120086.

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

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

Hendel, R. K., Hellem, M. N. N., Hjermind, L. E., Nielsen, J. E. & Vogel, A., May 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

3 Citations (Scopus)

2022

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

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

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

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, R. K., Larsen, I. U., Nielsen, T. T., Hjermind, L. E., Vogel, A., Budtz-Jørgensen, E., Petersén, Å. & Nielsen, J. E., Jun 2022, In: Parkinsonism & related disorders. 99, p. 23-29 7 p.

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

5 Citations (Scopus)

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

Nielsen, E. N., Ásbjörnsdóttir, B., Møller, L. B., Nielsen, J. E. & Lindquist, S. G., Oct 2022, In: Cold Spring Harbor Molecular Case Studies. 8, 6, a006236.

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

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

Holm Hansen, R., Talbot, J., Højsgaard Chow, H., Bredahl Hansen, M., Buhelt, S., Herich, S., Schwab, N., Hellem, M. N. N., Nielsen, J. E., Sellebjerg, F. & von Essen, M. R., Sept 2022, In: Neurology: Neuroimmunology and NeuroInflammation. 9, 5, e200009.

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

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, I., Møller, L. B., Nielsen, T. T., Nielsen, E. N., Krag, T., Svenstrup, K. & Nielsen, J. E., Jun 2022, In: Cerebellum. 21, 3, p. 514-519 6 p.

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

Peripheral helper T cells in the pathogenesis of multiple sclerosis

Holm Hansen, R., Højsgaard Chow, H., Talbot, J., Buhelt, S., Nickelsen Hellem, M. N., Nielsen, J. E., Sellebjerg, F. T. & von Essen, M. R., Aug 2022, In: Multiple Sclerosis Journal. 28, 9, p. 1340-1350 11 p.

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

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

Talbot, J., Højsgaard Chow, H., Mahler, M., Buhelt, S., Holm Hansen, R., Lundell, H., Vinther-Jensen, T., Hellem, M. N. N., Nielsen, J. E., Siebner, H. R., von Essen, M. R. & Sellebjerg, F., Dec 2022, In: Multiple Sclerosis and Related Disorders. 68, p. 104209 6 p., 104209.

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

9 Citations (Scopus)

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

Ásbjörnsdóttir, B., Henriksen, O. M., Lindquist, S., Møller, L. B., Sidaros, A. & Nielsen, J. E., 7 Mar 2022, In: BMJ Case Reports . 15, 3, p. 1-4 4 p., e248228.

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

2021

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, J., Muddashetty, R. S., Meyer, M., Aldana, B. I. & Freude, K. K., 9 Nov 2021, In: Stem cell reports. 16, 11, p. 2736-2751 16 p.

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

24 Citations (Scopus)

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, L. F., Nielsen, J. E., 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

13 Citations (Scopus)

Cortical Frontoparietal Network Dysfunction in CHMP2B-Frontotemporal Dementia

Musaeus, C. S., Pedersen, J. S., Kjær, T. W., Johannsen, P., Waldemar, G., Haverberg, M. J. N., Bacher, T., Nielsen, J. E., Roos, P. & FReJA Consortium, 13 Sept 2021, In: Frontiers in Aging Neuroscience. 13, p. e714220 714220.

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

2 Citations (Scopus)

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

Hellem, M. N. N., Hendel, R. K., Vinther-Jensen, T., Larsen, I. U., Nielsen, T. T., Hjermind, L. E., Budtz-Jørgensen, E., Vogel, A. & Nielsen, J. E., Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, p. 340 340.

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

3 Citations (Scopus)

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., Pijnenburg, Y. A. L., Ophoff, R. A., International FTD-Genomics Consortium, Nielsen, J. E. (Member of study group) & Hjermind, L. E. (Member of study group), 15 Apr 2021, In: Biological Psychiatry. 89, 8, p. 825-835 11 p.

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

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-Jørgensen, E., Hjermind, L. E., Larsen, V. A., Nielsen, J. E. & Law, I., 2021, In: PLoS One. 16, 6, p. e0252683 e0252683.

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

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

Hendel, R. K., Hellem, M. N. N., Hjermind, L. E., Nielsen, J. E. & Vogel, A., 2 Dec 2021, In: Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology. 34, 4, p. 295-302 8 p.

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

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. & Rowe, J. B. & 33 others, Benussi, L., Binetti, G., Ghidoni, R., Jabbari, E., Viollet, C., Glass, J. D., Singleton, A. B., Silani, V., Ross, O. A., Ryten, M., Torkamani, A., Tanaka, T., Ferrucci, L., Resnick, S. M., Pickering-Brown, S., Brady, C. B., Kowal, N., Hardy, J. A., Van Deerlin, V., Vonsattel, J. P., Harms, M. B., Morris, H. R., Ferrari, R., Landers, J. E., Chiò, A., Gibbs, J. R., Dalgard, C. L., Scholz, S. W., Traynor, B. J., American Genome Center (TAGC), International FTD-Genomics Consortium, Nielsen, J. E. (Member of study group) & Hjermind, L. E. (Member of study group), 3 Feb 2021, In: Neuron. 109, 3, p. 448-460.e4 13 p.

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

2020

Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease

von Essen, M. R., Hellem, M. N. N., Vinther-Jensen, T., Ammitzbøll, C., Hansen, R. H., Hjermind, L. E., Nielsen, T. T., Nielsen, J. E. & Sellebjerg, F., 1 Feb 2020, In: Annals of Neurology. 87, 2, p. 246-255 10 p.

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

25 Citations (Scopus)

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

Wardman, J. H., Henriksen, E. E., Marthaler, A. G., Nielsen, J. E. & Nielsen, T. T., 1 Apr 2020, In: Cerebellum. 19, 2, p. 165-181 17 p.

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

10 Citations (Scopus)

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

Aldana, B. I., Zhang, Y., Jensen, P., Chandrasekaran, A., Christensen, S. K., Nielsen, T. T., Nielsen, J. E., Hyttel, P., Larsen, M. R., Waagepetersen, H. S. & Freude, K. K., 14 Sept 2020, In: Molecular Brain. 13, 1, p. 125 125.

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

40 Citations (Scopus)

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

Thorlacius-Ussing, G., Nielsen, J. E., Law, I., Hansen, H. V. & Birgitte Bo, A., Nov 2020, In: Clinical Neurology and Neurosurgery. 198, p. 106147 106147.

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

2 Citations (Scopus)

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

Wang, T., Yu, X., Zhao, H., Zeng, P., International FTD-Genomics Consortium (IFGC) , Nielsen, J. E. (Member of study group) & Hjermind, L. E. (Member of study group), 1 Dec 2020, In: Scientific Reports. 10, 1, p. 12184 12184.

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

5 Citations (Scopus)

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

Bech, S., Løkkegaard, A., Nielsen, T. T., Nørremølle, A., Grønborg, S., Hasholt, L., Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, N., Mang, Y., Bak, M., Nielsen, J. E., Eiberg, H. & Hjermind, L. E., Dec 2020, In: Movement disorders : official journal of the Movement Disorder Society. 35, 12, p. 2343-2347 5 p.

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

2 Citations (Scopus)

Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation

Toft, A., Roos, P., Jääskeläinen, O., Musaeus, C. S., Henriksen, E. E., Johannsen, P., Nielsen, T. T., Herukka, S.-K., Hviid Simonsen, A. & Nielsen, J. E., 2020, In: Dementia and Geriatric Cognitive Disorders. 49, 6, p. 533-538 6 p.

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

2019

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Swarup, V., Hinz, F. I., Rexach, J. E., Noguchi, K.-I., Toyoshiba, H., Oda, A., Hirai, K., Sarkar, A., Seyfried, N. T., Cheng, C., Haggarty, S. J., Grossman, M., Van Deerlin, V. M., Trojanowski, J. Q., Lah, J. J., Levey, A. I., Kondou, S., Geschwind, D. H., International Frontotemporal Dementia Genomics Consortium & Hjermind, L. E. (Member of study group) & 1 others, Nielsen, J. E. (Member of study group), Jan 2019, In: Nature Medicine. 25, 1, p. 152-164 13 p.

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

88 Citations (Scopus)

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

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

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

11 Citations (Scopus)

2018

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Zhang, M., Ferrari, R., Tartaglia, M. C., Keith, J., Surace, E. I., Wolf, U., Sato, C., Grinberg, M., Liang, Y., Xi, Z., Dupont, K., McGoldrick, P., Weichert, A., McKeever, P. M., Schneider, R., McCorkindale, M. D., Manzoni, C., Rademakers, R., Graff-Radford, N. R. & Dickson, D. W. & 33 others, Parisi, J. E., Boeve, B. F., Petersen, R. C., Miller, B. L., Seeley, W. W., van Swieten, J. C., van Rooij, J., Pijnenburg, Y., van der Zee, J., Van Broeckhoven, C., Le Ber, I., Van Deerlin, V., Suh, E., Rohrer, J. D., Mead, S., Graff, C., Öijerstedt, L., Pickering-Brown, S., Rollinson, S., Rossi, G., Tagliavini, F., Brooks, W. S., Dobson-Stone, C., Halliday, G. M., Hodges, J. R., Piguet, O., Binetti, G., Benussi, L., Ghidoni, R., Nacmias, B., Hjermind, L. E. (Member of study group), Nielsen, J. E. (Member of study group) & International FTD-Genomics Consortium (IFGC) , 1 Oct 2018, In: Brain. 141, 10, p. 2895-2907 13 p.

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

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

Dombernowsky, N. W., Nielsen, E. N., Law, I. & Nielsen, J. E., 15 Jul 2018, In: Journal of the Neurological Sciences. 390, p. 52-53 2 p.

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

2 Citations (Scopus)

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, J. E., 2018, In: Neurology. 90, 2, p. e157-e163

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

11 Citations (Scopus)

CXCR4 involvement in neurodegenerative diseases

Bonham, L. W., Karch, C. M., Fan, C. C., Tan, C., Geier, E. G., Wang, Y., Wen, N., Broce, I. J., Li, Y., Barkovich, M. J., Ferrari, R., Hardy, J., Momeni, P., Höglinger, G., Müller, U., Hess, C. P., Sugrue, L. P., Dillon, W. P., Schellenberg, G. D. & Miller, B. L. & 8 others, Andreassen, O. A., Dale, A. M., Barkovich, A. J., Yokoyama, J. S., Desikan, R. S., Hjermind, L. E. (Member of study group), Nielsen, J. E. (Member of study group) & International FTD-Genomics Consortium (IFGC) , 11 Apr 2018, In: Translational psychiatry. 8, 1, p. 73

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

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, S. G., Petersen, M. B., Nielsen, J. E., Nielsen, M., Wood, N. W., Giunti, P. & Houlden, H., Jul 2018, In: Movement disorders : official journal of the Movement Disorder Society. 33, 7, p. 1119-1129 11 p.

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

26 Citations (Scopus)

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., Tan, C. H., 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. & 12 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., Hjermind, L. E. (Member of study group), Nielsen, J. E. (Member of study group) & International FTD-Genomics Consortium, Jan 2018, In: PLOS Medicine. 15, 1, p. e1002487

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

Inflammatory markers of CHMP2B-mediated frontotemporal dementia

Roos, P., von Essen, M. R., Nielsen, T. T., Johannsen, P., Stokholm, J., Bie, A. S., Waldemar, G., Simonsen, A. H., Heslegrave, A., Zetterberg, H., Sellebjerg, F., Nielsen, J. E. & FReJA Consortium, 15 Nov 2018, In: Journal of Neuroimmunology. 324, p. 136-142 7 p.

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

10 Citations (Scopus)

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, J. E., 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.-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.-P., 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.-Y. 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., Jun 2018, In: The Lancet Neurology. 17, 6, p. 548-558 11 p.

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

89 Citations (Scopus)

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

Jeppesen Kragh, F., Bruun, M., Budtz-Jørgensen, E., Hjermind, L. E., Schubert, R., Reilmann, R., Nielsen, J. E. & Hasselbalch, S. G., 26 Sept 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

10 Citations (Scopus)

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

McNulty, P., Pilcher, R., Ramesh, R., Necuiniate, R., Hughes, A., Farewell, D., Holmans, P., Jones, L., Hjermind, L. E. (Member of study group), Nielsen, J. E. (Member of study group), Vangsted-Hansen, C. (Member of study group), Stokholm, J. (Member of study group), Lindquist, S. G. (Member of study group), Vinther-Jensen, T. (Member of study group) & REGISTRY investigators of the European Huntington's Disease Network, 2018, In: Journal of Huntington's disease. 7, 3, p. 209-222 14 p.

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

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.-H., Lindquist, S. G., Johansen, P., McKenzie, N., Green, A., Nielsen, J. E., Laursen, H. & Lund, E. L., 1 Aug 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

6 Citations (Scopus)

2017

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, J. E. & Hjermind, L. E., 2017, In: Cerebellum. 16, 1, p. 268-71

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

11 Citations (Scopus)

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, B. I., Zhang, Y., Lihme, M. F., Bak, L. K., Nielsen, J. E., Holst, B., Hyttel, P., Freude, K. K. & Waagepetersen, H. S., Jun 2017, In: Neurochemistry International. 106, p. 48-61 14 p.

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

13 Citations (Scopus)

Defining active progressive multiple sclerosis

Sellebjerg, F., Börnsen, L., Ammitzbøll, C., Nielsen, J. E., Vinther-Jensen, T., Hjermind, L. E., von Essen, M., Ratzer, R. L., Soelberg Sørensen, P. & Romme Christensen, J., Nov 2017, In: Multiple sclerosis. 23, 13, p. 1727-1735 9 p.

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

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., Overgaard Larsen, J., Milioto, C., Wilson, K. M., Lythgoe, M. F., Ourselin, S., Nielsen, J. E., Johannsen, P., Holm, I., Collinge, J., Frej, A., Oliver, P. L., Gomez-Nicola, D. & Isaacs, A. M., 1 Mar 2017, In: Human Molecular Genetics. p. 873-887

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

26 Citations (Scopus)

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, Z., Nielsen, J. E. & Nielsen, T. T., May 2017, In: Mitochondrion. 34, p. 103-114 12 p.

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

48 Citations (Scopus)

Jørgen Erik Nielsen

Research output

Search results