Jørgen Erik Nielsen

Research output

Research output per year 1996 2016 2019

• 104 Journal article
• 3 Conference abstract in journal
• 2 Review
• 1 Book chapter
• 2 More
  • 1 Comment/debate
  • 1 Letter

Research output per year

Research output per year

Search results

• 2019

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

  Nielsen, J. E. & International FTD-Genomics Consortium (IFGC), 2019, In: Scientific Reports. 9, 1, 10 p., 10854.

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

  • Primary Progressive Aphasia 100%
  • Gene Regulatory Networks 71%
  • Semantics 68%
  • Genetic Variation 63%
  • Cell Death 50%
  4 Citations (Scopus)

  38 Downloads (Pure)

• Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

  International Frontotemporal Dementia Genomics Consortium, Ferrari, R., Rohrer, J. D., Ramasamy, A., Nielsen, J. E., Hjermind, L. E., Lebouvier, T., Ferrucci, L. & Kapogiannis, D., 1 Jan 2019, In: Nature Medicine. 25, p. 152-164

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

  • MicroRNA 100%
  • Gene Regulatory Networks 88%
  • Mutation 68%
  • Dementia 68%
  • Cell Death 43%
  29 Citations (Scopus)
• 2018

  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 › Comment/debate › Research

  1 Citation (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., 9 Jan 2018, In: Neurology. 90, 2, p. e157-e163

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

  • Intermediate Filaments 100%
  • Frontotemporal Dementia 97%
  • Light 64%
  • Mutation 50%
  • Biomarkers 25%
  6 Citations (Scopus)

  42 Downloads (Pure)

• 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. 33, 7, p. 1119-1129 11 p.

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

  • Spinocerebellar ataxia 14 100%
  • Dystonia 59%
  • Genetic Association Studies 53%
  • Cerebellar Ataxia 50%
  • Protein Kinase C 47%
  8 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., 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 othersKarlsen, 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, J. B., Nielsen, J. E., Hjermind, L. E. & International FTD-Genomics Consortium, 2018, In: PLoS Medicine. 15, 1, 20 p., e1002487.

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

  • Frontotemporal Dementia 100%
  • Genome-Wide Association Study 83%
  • Immune System Diseases 21%
  • HLA Antigens 20%
  • Progressive Supranuclear Palsy 20%
  53 Citations (Scopus)

  49 Downloads (Pure)

• 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., FReJA Consortium, Sellebjerg, F. & Nielsen, J. E., 15 Nov 2018, In: Journal of Neuroimmunology. 324, p. 136-142 7 p.

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

  • Frontotemporal Dementia 100%
  • Serum 36%
  • Interleukin-15 33%
  • Mutation 29%
  • Cerebrospinal Fluid 23%
  2 Citations (Scopus)

• 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, J. E., Jørgensen, A., 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

  • Sperm Count 100%
  • Semen 88%
  • Cholesterol 59%
  • Cohort Studies 55%
  • Cross-Sectional Studies 52%
  7 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 othersFinger, 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., 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

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

  • Frontotemporal Lobar Degeneration 100%
  • Progranulins 90%
  • Genome-Wide Association Study 74%
  • Age of Onset 67%
  • Inborn Genetic Diseases 65%
  45 Citations (Scopus)

• 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, J. E. & Mann, M., 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-Jørgensen, E., Hjermind, L. E., Schubert, R., Reilmann, R., Nielsen, J. E. & Hasselbalch, S. G., 1 Nov 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

  • Lewy Body Disease 100%
  • Proof of Concept Study 98%
  • Frontotemporal Dementia 98%
  • Alzheimer Disease 61%
  • Pronation 52%
  6 Citations (Scopus)

• 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

  • Gerstmann-Straussler-Scheinker Disease 100%
  • Sporadic Creutzfeldt-Jakob Disease 93%
  • Chimerism 77%
  • Prions 75%
  • wife 53%
  3 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., Feb 2017, In: Cerebellum. 16, 1, p. 268-271 4 p.

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

  • Spinocerebellar Ataxias 100%
  • Spinocerebellar Ataxia 11 78%
  • Mutation 41%
  • tau-tubulin kinase 24%
  • Frameshift Mutation 15%
  7 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

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

  • Induced Pluripotent Stem Cells 100%
  • Energy Metabolism 80%
  • Neurotransmitter Agents 77%
  • Neurons 54%
  • Glutamine 19%
  11 Citations (Scopus)

  45 Downloads (Pure)

• 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., 1 Nov 2017, In: Multiple Sclerosis. 23, 13, p. 1727-1735

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

  • Multiple Sclerosis 100%
  • Myelin Basic Protein 69%
  • Intermediate Filaments 62%
  • Cerebrospinal Fluid 61%
  • Chitinases 61%
  14 Citations (Scopus)

• 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, J. E., Johannsen, P., Holm, I., Collinge, J., Oliver, P. L., Gomez-Nicola, D. & Isaacs, A. M., 1 Mar 2017, In: Human Molecular Genetics. 26, 5, p. 873-887 15 p.

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

  • Frontotemporal Dementia 100%
  • Mutation 44%
  • Social Behavior 15%
  • Frontal Lobe 12%
  • Transgenic Mice 11%
  20 Citations (Scopus)

  62 Downloads (Pure)

• 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., 1 May 2017, In: Mitochondrion. 34, p. 103-114 12 p.

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

  • Spinocerebellar Ataxias 100%
  • coenzyme Q10 97%
  • Fibroblasts 54%
  • Oxidative Stress 54%
  • Ataxin-2 43%
  19 Citations (Scopus)

• Hereditary cerebral small vessel disease and stroke

  Søndergaard, C. B., Nielsen, J. E., Hansen, C. K. & Christensen, H., 1 Apr 2017, In: Clinical Neurology and Neurosurgery. 155, p. 45-57 13 p.

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

  • Cerebral Small Vessel Diseases 100%
  • Fabry Disease 61%
  • Vasculopathy, Retinal, With Cerebral Leukodystrophy 47%
  • Stroke 46%
  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 43%
  31 Citations (Scopus)

• 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, A., Téglási, A., Bock, I., Giudice, M. L., Táncos, Z., Molnár, K., László, L., Nielsen, J. E., Holst, B., Freude, K., 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

  • Amyloid 100%
  • Alzheimer Disease 81%
  • Neurons 64%
  • Induced Pluripotent Stem Cells 20%
  • Amyloid beta-Protein Precursor 10%
  75 Citations (Scopus)

  115 Downloads (Pure)

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

  Zhang, Y., Schmid, B., Nikolaisen, 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 othersHolst, B., Clausen, C., Hyttel, P. & Freude, K., 14 Mar 2017, In: Stem Cell Reports. 8, 3, p. 648-658

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

  • Multivesicular Bodies 100%
  • Frontotemporal Dementia 89%
  • Induced Pluripotent Stem Cells 81%
  • Mutation 60%
  • Neurons 44%
  34 Citations (Scopus)

  471 Downloads (Pure)

• 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, I., Vissing, J., Roos, P., Hjermind, L. E. & Nielsen, J. E., 1 Feb 2017, In: The Cerebellum. 16, 1, p. 62-67 6 p.

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

  • Spinocerebellar ataxia 28 100%
  • Cerebellar Diseases 63%
  • Muscular Atrophy 54%
  • Cerebellar Ataxia 39%
  • m-AAA proteases 30%
  10 Citations (Scopus)

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

  Rostgaard, N., Roos, P., Budtz-Jørgensen, E., Johannsen, P., Waldemar, G., Nørremølle, A., Lindquist, S. G., Gydesen, S., Brown, J. M., Collinge, J., Isaacs, A. M., Nielsen, T. T., Nielsen, J. E. & FReJA collaboration, Nov 2017, In: Neurobiology of Aging. 59, p. 221.e1-221.e7 7 p.

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

  • Frontotemporal Dementia 100%
  • Apolipoproteins E 85%
  • Age of Onset 32%
  • Institutionalization 29%
  • Single Nucleotide Polymorphism 19%
  4 Citations (Scopus)
• 2016

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

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

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

  • Presenilin-1 100%
  • Induced Pluripotent Stem Cells 81%
  • Alzheimer Disease 55%
  • Mutation 40%
  • Fibroblasts 26%
  7 Citations (Scopus)

  72 Downloads (Pure)

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

  Larsen, I. U., Vinther-Jensen, T., Gade, A., Nielsen, J. E. & Vogel, A. M., 1 Feb 2016, In: Neuropsychology. 30, 2, p. 181-189

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

  14 Citations (Scopus)

• 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, I., Hansen, C., Roos, P., Stokholm, J., Isaacs, A. M., Brown, J. & Nielsen, J. E., Aug 2016, In: Journal of Neurochemistry. 138, S1, p. 375-375

  Research output: Contribution to journal › Conference abstract in journal › 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-Y., Nimsanor, N., Nielsen, T. T., Waldemar, G., Hjermind, L. E., Nielsen, J. E., Hyttel, P. & Freude, K., Sept 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 Cells 100%
  • Alzheimer Disease 68%
  • Cell Line 52%
  • Mutation 49%
  • Genes 35%
  20 Citations (Scopus)

  100 Downloads (Pure)

• 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-Y., Schmid, B., Pires, C., Nielsen, T. T., Hjermind, L. E., Nielsen, J. E., Holst, B., Hyttel, P. & Freude, K., Nov 2016, In: Stem Cell Research. 17, 3, p. 466-469 4 p.

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

  • Presenilin-1 100%
  • Induced Pluripotent Stem Cells 81%
  • Alzheimer Disease 55%
  • Mutation 40%
  • Gene Editing 29%
  17 Citations (Scopus)

  115 Downloads (Pure)

• 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, J. E., Clausen, C., Hyttel, P., Holst, B. & Freude, K., Jul 2016, In: Stem Cell Research. 17, 1, p. 148-150 3 p.

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

  • Multivesicular Bodies 100%
  • Clustered Regularly Interspaced Short Palindromic Repeats 82%
  • Induced Pluripotent Stem Cells 81%
  • Frontotemporal Dementia 59%
  • Cell Line 42%
  3 Citations (Scopus)

  142 Downloads (Pure)

• 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, J. E., Clausen, C., Hyttel, P., Holst, B. & Freude, K. K., 2016, In: Stem Cell Research. 17, 1, p. 151-153 3 p.

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

  • Multivesicular Bodies 100%
  • Clustered Regularly Interspaced Short Palindromic Repeats 82%
  • Induced Pluripotent Stem Cells 81%
  • Frontotemporal Dementia 59%
  • Cell Line 42%
  5 Citations (Scopus)

  60 Downloads (Pure)

• 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, J. E., Nielsen, T. T. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 162-165 4 p.

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

  • Spinocerebellar Ataxias 100%
  • Induced Pluripotent Stem Cells 83%
  • Cell Line 43%
  • Genes 29%
  • Cerebellum 22%
  5 Citations (Scopus)

  51 Downloads (Pure)

• 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, J. E. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 202-205 4 p.

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

  • Spinocerebellar Ataxias 100%
  • Induced Pluripotent Stem Cells 83%
  • Cell Line 43%
  • Genes 29%
  • Cerebellum 22%
  10 Citations (Scopus)

  61 Downloads (Pure)

• 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, J. E., Nielsen, T. T. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 180-183 4 p.

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

  • Spinocerebellar Ataxias 100%
  • Induced Pluripotent Stem Cells 83%
  • Cell Line 43%
  • Genes 29%
  • Cerebellum 22%
  8 Citations (Scopus)

  54 Downloads (Pure)

• 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, J. E., 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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Cell Line 47%
  • Mutation 44%
  3 Citations (Scopus)

• 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, J. E., 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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Cell Line 47%
  • Mutation 44%
  5 Citations (Scopus)

• 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, J. E., 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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Cell Line 47%
  • Mutation 44%
  7 Citations (Scopus)

• 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, J. E., Hjermind, L. E., Hall, V. J., Nielsen, T. T., Waldemar, G., Hyttel, P., Clausen, C., Kitiyanant, N., Freude, K. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 110-112 3 p.

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

  • Presenilin-1 100%
  • Induced Pluripotent Stem Cells 81%
  • Alzheimer Disease 55%
  • Mutation 40%
  • Germ Layers 30%
  12 Citations (Scopus)

  68 Downloads (Pure)

• 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, G., Hjermind, L. E., Nielsen, J. E., Dinnyes, A., Holst, B., Hyttel, P. & Freude, K., 1 Mar 2016, In: Stem Cell Research. 16, 2, p. 334-337 4 p.

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

  • Induced Pluripotent Stem Cells 100%
  • Alzheimer Disease 68%
  • Mutation 49%
  • Presenilin-1 40%
  • Germ Layers 37%
  15 Citations (Scopus)

  89 Downloads (Pure)

• 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, G., Hjermind, L. E., Nielsen, J. E., Dinnyes, A., Hyttel, P. & Freude, K. K., 1 Mar 2016, In: Stem Cell Research. 16, 2, p. 229-332 4 p.

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

  • Presenilin-1 100%
  • Induced Pluripotent Stem Cells 81%
  • Alzheimer Disease 55%
  • Mutation 40%
  • Germ Layers 30%
  6 Citations (Scopus)

• 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, J. E. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 199-201 3 p.

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

  • Spinocerebellar Ataxias 100%
  • Induced Pluripotent Stem Cells 83%
  • Cell Line 43%
  • Karyotype 25%
  • Cerebellum 22%
  4 Citations (Scopus)

  84 Downloads (Pure)

• 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, J. E. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 166-169 4 p.

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

  • Spinocerebellar Ataxias 100%
  • Induced Pluripotent Stem Cells 83%
  • Cell Line 43%
  • Karyotype 25%
  • Cerebellum 22%
  4 Citations (Scopus)

  51 Downloads (Pure)

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

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

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

  • Spinocerebellar Ataxias 100%
  • Induced Pluripotent Stem Cells 83%
  • Cell Line 43%
  • Karyotype 25%
  • Cerebellum 22%
  4 Citations (Scopus)

  46 Downloads (Pure)

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

  Hansen, S. K., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., 1 May 2016, In: Stem Cell Research. 16, 3, p. 553-556 4 p.

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

  • Machado-Joseph Disease 100%
  • Induced Pluripotent Stem Cells 74%
  • Cell Line 39%
  • Plasmids 35%
  • Germ Layers 28%
  4 Citations (Scopus)

  100 Downloads (Pure)

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

  Hansen, S. K., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., 1 May 2016, In: Stem Cell Research. 16, 3, p. 589-592 4 p.

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

  • Machado-Joseph Disease 100%
  • Induced Pluripotent Stem Cells 74%
  • Cell Line 39%
  • Plasmids 35%
  • Germ Layers 28%
  7 Citations (Scopus)

  141 Downloads (Pure)

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

  Hansen, S. K., Stummann, T. C., Madsen, H. B., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Daechsel, J. C. A., Fog, K. & Hyttel, P., 1 Sept 2016, In: Stem Cell Research. 17, 2, p. 306-317 12 p.

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

  • Machado-Joseph Disease 100%
  • Induced Pluripotent Stem Cells 74%
  • Neurons 40%
  • Glutamic Acid 19%
  • Ataxin-3 18%
  15 Citations (Scopus)

  109 Downloads (Pure)

• 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, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 105-109 5 p.

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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Mutation 44%
  • Germ Layers 33%
  3 Citations (Scopus)

  101 Downloads (Pure)

• 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, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 70-74 5 p.

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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Mutation 44%
  • Germ Layers 33%
  6 Citations (Scopus)

  79 Downloads (Pure)

• 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, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 75-78 4 p.

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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Mutation 44%
  • Germ Layers 33%
  4 Citations (Scopus)

  78 Downloads (Pure)

• 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, J. E., 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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Mutation 44%
  • Genes 32%
  3 Citations (Scopus)

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

  Nielsen, S. M. B., Vinther-Jensen, T., Nielsen, J. E., Nørremølle, A., Hasholt, L., 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

  • Huntington Disease 100%
  • Liver 46%
  • Genes 30%
  • Liver Function Tests 23%
  • Transferases 7%
  6 Citations (Scopus)

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

  Larsen, I. U., Mortensen, E. L., Vinther-Jensen, T., Nielsen, J. E., Knudsen, G. M. & Vogel, A., 1 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

  • Huntington Disease 100%
  • Personality 80%
  • Genes 36%
  • Psychiatry 25%
  • Assertiveness 10%
  1 Citation (Scopus)