Jørgen Erik Nielsen

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, Jørgen Erik & Nielsen, T. T., 2013, In: European Journal of Human Genetics. 21, 6, p. 626-9 4 p.

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

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

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

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

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

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

The DJ-1 concentration in cerebrospinal fluid does not differentiate among parkinsonian syndromes

Salvesen, Lisette, Bech, S., Løkkegaard, Annemette, Hjermind, L. E., Nielsen, Jørgen Erik, Pakkenberg, B., Tanassi, J. T., Heegaard, N. H. H. & Winge, K., Aug 2012, In: Parkinsonism & Related Disorders. 18, 7, p. 899-901 3 p.

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

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

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

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

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

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

NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

Svenstrup, K., Møller, R. S., Christensen, J., Budtz-Joergensen, Esben, Nielsen, M. G. & Nielsen, Jørgen Erik, 1 Sep 2011, In: European journal of neurology : the official journal of the European Federation of Neurological Societies. 18, 9, p. 1197-9 3 p.

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

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

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

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

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

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

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

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

Proteomic investigations of the ventriculo-lumbar gradient in human CSF

Simonsen, A. H., Bech, S. B. W., Laursen, I., Salvesen, Lisette, Winge, K., Waldemar, Gunhild, Werdelin, L., Nielsen, Jørgen Erik, McGuire, J. N. & Hjermind, L. E., Aug 2010, In: Journal of Neuroscience Methods. 191, 2, p. 244-8 5 p.

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

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

Svenstrup, K., Giraud, G., Boespflug-Tanguy, O., Danielsen, E. R., Thomsen, C., Rasmussen, K., Law, I., Vogel, A., Stokholm, J., Crone, C., Hjermind, L. E., Nielsen, J. E., Svenstrup, K., Giraud, G., Boespflug-Tanguy, O., Danielsen, E. R., Thomsen, C., Rasmussen, K., Law, I., Vogel, A. & 4 others, Stokholm, J., Crone, C., Hjermind, L. E. & Nielsen, J. E., 1 Jun 2010, In: Journal of Neurology, Neurosurgery and Psychiatry. 81, 6, p. 666-72 13 p.

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

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

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

Urwin, H., Authier, A., Nielsen, Jørgen Erik, Metcalf, D., Powell, C., Froud, K., Malcolm, D. S., Holm, I., Johannsen, P., Brown, J., Fisher, E. M. C., van der Zee, J., Bruyland, M., FReJA Consortium, F. C., Van Broeckhoven, C., Collinge, J., Brandner, S., Futter, C. & Isaacs, A. M., 2010, In: Human Molecular Genetics. 19, 11, p. 2228-38 10 p.

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

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

Urwin, H., Josephs, K. A., Rohrer, J. D., Mackenzie, I. R., Neumann, M., Authier, A., Seelaar, H., Van Swieten, J. C., Brown, J. M., Johannsen, P., Nielsen, J. E., Holm, I. E., FReJA Consortium, Dickson, D. W., Rademakers, R., Graff-Radford, N. R., Parisi, J. E., Petersen, R. C., Hatanpaa, K. J., White, C. L. & 28 others, Weiner, M. F., Geser, F., Van Deerlin, V. M., Trojanowski, J. Q., Miller, B. L., Seeley, W. W., van der Zee, J., Kumar-Singh, S., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Bigio, E. H., Deng, H., Halliday, G. M., Kril, J. J., Munoz, D. G., Mann, D. M., Pickering-Brown, S. M., Doodeman, V., Adamson, G., Ghazi-Noori, S., Fisher, E. M. C., Holton, J. L., Revesz, T., Rossor, M. N., Collinge, J., Mead, S. & Isaacs, A. M., 2010, In: Acta Neuropathologica. 120, 1, p. 33-41 8 p.

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

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

Transthyretin as a potential CSF biomarker for Alzheimer's disease and dementia with Lewy bodies: effects of treatment with cholinesterase inhibitors

Schultz, K., Nilsson, K., Nielsen, Jørgen Erik, Lindquist, Suzanne Granhøj, Hjermind, L. E., Andersen, B. B., Wallin, A., Nilsson, C. & Petersén, A., 2010, In: European Journal of Neurology. 17, 3, p. 456-60 4 p.

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

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

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

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

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

Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation

Rohrer, J. D., Ahsan, R. L., Isaacs, A. M., Nielsen, Jørgen Erik, Ostergaard, L., Scahill, R., Warren, J. D., Rossor, M. N., Fox, N. C., Johannsen, P. & FReJA Consortium, F. C., 2009, In: Dementia and Geriatric Cognitive Disorders. 27, 2, p. 182-6 4 p.

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

Reduced CSF CART in dementia with Lewy bodies

Schultz, K., Wiehager, S., Nilsson, K., Nielsen, Jørgen Erik, Lindquist, Suzanne Granhøj, Hjermind, L. E., Andersen, B. B., Wallin, A., Nilsson, C. & Petersén, A., 2009, In: Neuroscience Letters. 453, 2, p. 104-6 2 p.

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

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia

Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A., Hasholt, L., Nielsen, J. E., Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A. & 2 others, Hasholt, L. & Nielsen, J. E., 2009, In: Journal of the Neurological Sciences. 284, 1-2, p. 90-5 5 p.

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

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

[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

Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia

Scheuer, K. H., Nielsen, Jørgen Erik, Krabbe, K., Simonsen, C., Koefoed, P., Sørensen, S. A., Gade, A., Paulson, Olaf B. & Law, Ian, 2005, In: Journal of the Neurological Sciences. 235, 1-2, p. 23-32 9 p.

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