Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor


  1. 2019
  2. Published

    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).

    In: Scientific Reports, Vol. 9, No. 1, 10854, 2019.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. / International Frontotemporal Dementia Genomics Consortium; Ferrari, Raffaele; Rohrer, Jonathan D.; Ramasamy, Adaikalavan; Nielsen, Jørgen Erik; Hjermind, Lena E; Lebouvier, Thibaud; Ferrucci, Luigi; Kapogiannis, Dimitrios.

    In: Nature Medicine, Vol. 25, 2019, p. 152-164.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2018
  5. Published

    Beneficial effect of intravenous immunoglobulin treatment in a patient with antiphospholipid syndrome associated chorea. / Dombernowsky, Nanna W; Nielsen, Emilie N; Law, Ian; Nielsen, Jørgen E.

    In: Journal of the Neurological Sciences, Vol. 390, 2018, p. 52-53.

    Research output: Contribution to journalComment/debateResearch

  6. Published

    CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers. / Rostgaard, Nina; Roos, Peter; Portelius, Erik; Blennow, Kaj; Zetterberg, Henrik; Simonsen, Anja H; Nielsen, Jørgen E.

    In: Neurology, Vol. 90, No. 2, 2018, p. e157-e163.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. / Chelban, Viorica; Wiethoff, Sarah; Fabian-Jessing, Bjørn K; Haridy, Nourelhoda A; Khan, Alaa; Efthymiou, Stephanie; Becker, Esther B E; O'Connor, Emer; Hersheson, Joshua; Newland, Katrina; Hojland, Allan Thomas; Gregersen, Pernille A; Lindquist, Suzanne G.; Petersen, Michael B.; Nielsen, Jørgen E.; Nielsen, Michael; Wood, Nicholas W; Giunti, Paola; Houlden, Henry.

    In: Movement Disorders, Vol. 33, No. 7, 2018, p. 1119-1129.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Immune-related genetic enrichment in frontotemporal dementia : An analysis of genome-wide association studies. / Broce, Iris; Karch, Celeste M.; Wen, Natalie; Fan, Chun C.; Wang, Yunpeng; Hong Tan, Chin; Kouri, Naomi; Ross, Owen A.; Höglinger, Günter U.; Muller, Ulrich; Hardy, John; Momeni, Parastoo; Hess, Christopher P.; Dillon, William P.; Miller, Zachary A.; Bonham, Luke W.; Rabinovici, Gil D.; Rosen, Howard J.; Schellenberg, Gerard D.; Franke, Andre; Karlsen, Tom H.; Veldink, Jan H.; Ferrari, Raffaele; Yokoyama, Jennifer S.; Miller, Bruce L.; Andreassen, Ole A.; Dale, Anders M.; Desikan, Rahul S.; Sugrue, Leo P.; Ferrari, Raffaele; Hernandez, Dena G.; Nalls, Michael A.; Rohrer, Jonathan D.; Ramasamy, Adaikalavan; Kwok, John B.J.; Dobson-Stone, Carol; Brooks, William S.; Schofield, Peter R.; Halliday, Glenda M.; Hodges, John R.; Piguet, Olivier; Bartley, Lauren; Thompson, Elizabeth; Haan, Eric; Hernández, Isabel; Ruiz, Agustín; Boada, Mercè; Rowe, James B.; Nielsen, Jørgen E.; Hjermind, Lena E.; International FTD-Genomics Consortium.

    In: PLoS Medicine, Vol. 15, No. 1, e1002487, 2018.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Inflammatory markers of CHMP2B-mediated frontotemporal dementia. / Roos, Peter; von Essen, Marina Rode; Nielsen, Troels Tolstrup; Johannsen, Peter; Stokholm, Jette; Bie, Anne Sigaard; Waldemar, Gunhild; Simonsen, Anja Hviid; Heslegrave, Amanda; Zetterberg, Henrik; FReJA Consortium ; Sellebjerg, Finn; Nielsen, Jørgen Erik.

    In: Journal of Neuroimmunology, Vol. 324, 2018, p. 136-142.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Positive association between cholesterol in human seminal plasma and sperm counts : results from a cross-sectional cohort study and immunohistochemical investigations. / de Neergaard, R.; Nielsen, J. E.; Jørgensen, A.; Toft, B. G.; Goetze, J. P.; Jørgensen, N.

    In: Andrology, Vol. 6, No. 6, 2018, p. 817-828.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations : a genome-wide association study. / Pottier, Cyril; Zhou, Xiaolai; Perkerson, Ralph B; Baker, Matt; Jenkins, Gregory D; Serie, Daniel J; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; López De Munain, Adolfo; Zulaica, Miren; Moreno, Fermin; Le Ber, Isabelle; Pasquier, Florence; Hannequin, Didier; Sánchez-Valle, Raquel; Antonell, Anna; Lladó, Albert; Parsons, Tammee M; Finch, Nicole A; Finger, Elizabeth C; Lippa, Carol F; Huey, Edward D; Neumann, Manuela; Heutink, Peter; Synofzik, Matthis; Wilke, Carlo; Rissman, Robert A; Slawek, Jaroslaw; Sitek, Emilia; Johannsen, Peter; Nielsen, Jørgen E; Ren, Yingxue; Van Blitterswijk, Marka; Dejesus-Hernandez, Mariely; Christopher, Elizabeth; Murray, Melissa E; Bieniek, Kevin F; Evers, Bret M; Ferrari, Camilla; Rollinson, Sara; Richardson, Anna; Scarpini, Elio; Fumagalli, Giorgio G; Padovani, Alessandro; Hardy, John; Momeni, Parastoo; Ferrari, Raffaele; Frangipane, Francesca; Maletta, Raffaele; Anfossi, Maria; Gallo, Maura; Petrucelli, Leonard; Suh, Eunran; Lopez, Oscar L; Wong, Tsz H; Van Rooij, Jeroen G J; Seelaar, Harro; Mead, Simon; Caselli, Richard J; Reiman, Eric M; Noel Sabbagh, Marwan; Kjolby, Mads; Nykjaer, Anders; Karydas, Anna M; Boxer, Adam L; Grinberg, Lea T; Grafman, Jordan; Spina, Salvatore; Oblak, Adrian; Mesulam, M-Marsel; Weintraub, Sandra; Geula, Changiz; Hodges, John R; Piguet, Olivier; Brooks, William S; Irwin, David J; Trojanowski, John Q; Lee, Edward B; Josephs, Keith A; Parisi, Joseph E; Ertekin-Taner, Nilüfer; Knopman, David S; Nacmias, Benedetta; Piaceri, Irene; Bagnoli, Silvia; Sorbi, Sandro; Gearing, Marla; Glass, Jonathan; Beach, Thomas G; Black, Sandra E; Masellis, Mario; Rogaeva, Ekaterina; Vonsattel, Jean-paul; Honig, Lawrence S; Kofler, Julia; Bruni, Amalia C; Snowden, Julie; Mann, David; Pickering-Brown, Stuart; Diehl-Schmid, Janine; Winkelmann, Juliane; Galimberti, Daniela; Graff, Caroline; Öijerstedt, Linn; Troakes, Claire; Al-Sarraj, Safa; Cruchaga, Carlos; Cairns, Nigel J; Rohrer, Jonathan D; Halliday, Glenda M; Kwok, John B; Van Swieten, John C; White, Charles L; Ghetti, Bernardino; Murell, Jill R; Mackenzie, Ian R A; Hsiung, Ging-Yuek R; Borroni, Barbara; Rossi, Giacomina; Tagliavini, Fabrizio; Wszolek, Zbigniew K; Petersen, Ronald C; Bigio, Eileen H; Grossman, Murray; Van Deerlin, Vivianna M; Seeley, William W; Miller, Bruce L; Graff-Radford, Neill R; Boeve, Bradley F; Dickson, Dennis W; Biernacka, Joanna M; Rademakers, Rosa.

    In: The Lancet Neurology, Vol. 17, No. 6, 2018, p. 548-558.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Quality control for plasma and cerebrospinal fluid samples using mass spectrometry. / Skotte, Nels H.; Geyer, Phillip E.; Steger, Martin; Treit, Peter V.; Voytik, Eugenia; Hellem, Marie N.; Nielsen, Jørgen E.; Mann, Matthias.

    In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 89, 2018, p. A31-A32.

    Research output: Contribution to journalConference abstract in journalResearch

  13. Published

    Quantitative Measurements of Motor Function in Alzheimer's Disease, Frontotemporal Dementia, and Dementia with Lewy Bodies : A Proof-of-Concept Study. / Kragh, Frederikke Jeppesen; Bruun, Marie; Budtz-Jørgensen, Esben; Hjermind, Lena Elisabeth; Schubert, Robin; Reilmann, Ralf; Nielsen, Jørgen Erik; Hasselbalch, Steen Gregers.

    In: Dementia and Geriatric Cognitive Disorders, Vol. 46, No. 3-4, 2018, p. 168-179.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Sporadic Creutzfeldt-Jakob Disease in a Woman Married Into a Gerstmann-Sträussler-Scheinker Family : An Investigation of Prions Transmission via Microchimerism. / Areškeviciute, Aušrine; Melchior, Linea Cecilie; Broholm, Helle; Krarup, Lars-Henrik; Lindquist, Suzanne Granhøj; Johansen, Peter; McKenzie, Neil; Green, Alison; Nielsen, Jørgen Erik; Laursen, Henning; Lund, Eva Løbner.

    In: Journal of Neuropathology and Experimental Neurology, Vol. 77, No. 8, 2018, p. 673-684.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2017
  16. Published

    Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation. / Ochalek, Anna; Mihalik, Balázs; Avci, Hasan X.; Chandrasekaran, Abinaya; Téglási, Annamária; Bock, István; Giudice, Maria Lo; Táncos, Zsuzsanna; Molnár, Kinga; László, Lajos; Nielsen, Jørgen E.; Holst, Bjørn; Freude, Kristine; Hyttel, Poul; Kobolák, Julianna; Dinnyés, András.

    In: Alzheimer's Research and Therapy, Vol. 9, No. 1, 90, 12.2017.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). / Rostgaard, Nina; Roos, Peter; Budtz-Jørgensen, Esben; Johannsen, Peter; Waldemar, Gunhild; Nørremølle, Anne; Lindquist, Suzanne G.; Gydesen, Susanne; Brown, Jeremy M.; Collinge, John; Isaacs, Adrian M.; Nielsen, Troels T.; Nielsen, Jørgen E; FReJA collaboration.

    In: Neurobiology of Aging, Vol. 59, 11.2017, p. 221.e1-221.e7.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts : Effect of coenzyme Q10 supplementation on these parameters. / Cornelius, Nanna; Wardman, Jonathan H; Hargreaves, Iain P; Neergheen, Viruna; Bie, Anne Sigaard; Tümer, Zeynep; Nielsen, Jørgen E; Nielsen, Troels T.

    In: Mitochondrion, Vol. 34, 05.2017, p. 103-114.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Hereditary cerebral small vessel disease and stroke. / Søndergaard, Christian Baastrup; Nielsen, Jørgen Erik; Hansen, Christine Krarup; Christensen, Hanne.

    In: Clinical Neurology and Neurosurgery, Vol. 155, 04.2017, p. 45-57.

    Research output: Contribution to journalReviewResearchpeer-review

  20. Published

    A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. / Lindquist, Suzanne Granhøj; Møller, Lisbeth Birk; Dali, Christine I.; Marner, Lisbeth; Kamsteeg, Erik Jan; Nielsen, Jørgen Erik; Hjermind, Lena Elisabeth.

    In: Cerebellum, Vol. 16, No. 1, 02.2017, p. 268-271.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    SCA28 : Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy. / Svenstrup, Kirsten; Nielsen, Troels Tolstrup; Aidt, Frederik; Rostgaard, Nina; Duno, Morten; Wibrand, Flemming; Vinther-Jensen, Tua; Law, Ian; Vissing, John; Roos, Peter; Hjermind, Lena Elisabeth; Nielsen, Jørgen Erik.

    In: The Cerebellum, Vol. 16, No. 1, 02.2017, p. 62-67.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published
  23. Published

    Defining active progressive multiple sclerosis. / Sellebjerg, Finn; Börnsen, Lars; Ammitzbøll, Cecilie; Nielsen, Jørgen Erik; Vinther-Jensen, Tua; Hjermind, Lena Elisabeth; von Essen, Marina; Ratzer, Rikke Lenhard; Soelberg Sørensen, Per; Romme Christensen, Jeppe.

    In: Multiple Sclerosis, Vol. 23, No. 13, 2017, p. 1727-1735.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation. / Clayton, Emma L.; Mancuso, Renzo; Nielsen, Troels Tolstrup; Mizielinska, Sarah; Holmes, Holly; Powell, Nicholas; Norona, Frances; Larsen, Jytte Overgaard; Milioto, Carmelo; Wilson, Katherine M.; Lythgoe, Mark F.; Ourselin, Sebastian; Nielsen, Jorgen E.; Johannsen, Peter; Holm, Ida; Collinge, John; Oliver, Peter L.; Gomez-Nicola, Diego; Isaacs, Adrian M.

    In: Human Molecular Genetics, Vol. 26, No. 5, 2017, p. 873-887.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Patient iPSC-derived neurons for disease modeling of frontotemporal dementia with mutation in CHMP2B. / Zhang, Yu; Schmid, Benjamin; Nikolaisen, Nanett Kvist; Rasmussen, Mikkel A.; Garcia, Blanca Irene Aldana; Agger, Mikkel; Callø, Kirstine; Stummann, Tina C.; Larsen, Hjalte M. ; Nielsen, Troels T. ; Huang, Jinrong ; Xu, Fengping; Liu, Xin; Bolund, Lars; Meyer, Morten; Bak, Lasse Kristoffer; Waagepetersen, Helle S.; Luo, Yonglun; Nielsen, Jørgen Erik; Consortium, The FReJA ; Holst, Bjørn; Clausen, Christian; Hyttel, Poul; Freude, Kristine.

    In: Stem Cell Reports, Vol. 8, No. 3, 2017, p. 648-658.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2016
  27. Published

    Social Cognition, Executive Functions and Self-Report of Psychological Distress in Huntington's Disease. / Larsen, Ida Unmack; Vinther-Jensen, Tua; Nielsen, Jørgen Erik; Gade, Anders; Vogel, Asmus.

    In: PLoS Currents, Vol. 8, 28.12.2016, p. 1-20.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Personality Traits in Huntington's Disease : An Exploratory Study of Gene Expansion Carriers and Non-Carriers. / Larsen, Ida Unmack; Mortensen, Erik Lykke; Vinther-Jensen, Tua; Nielsen, Jørgen Erik; Knudsen, Gitte Moos; Vogel, Asmus.

    In: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, Vol. 171, No. 8, 12.2016, p. 1153-1160.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease. / Vinther-Jensen, Tua; Börnsen, Lars Svend; Budtz-Jorgensen, Esben; Ammitzboll, Cecilie; Larsen, Ida U.; Hjermind, Lena E.; Sellebjerg, Finn; Nielsen, Jorgen E.

    In: Neurology: Neuroimmunology & Neuroinflammation, Vol. 3, No. 6, e287, 12.2016.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1. / Poon, Anna Fong-Yee; Li, Tong; Pires, Carlota; Nielsen, Troels Tolstrup; Nielsen, Jørgen Erik; Holst, Bjørn; Dinnyes, Andras; Hyttel, Poul; Freude, Kristine.

    In: Stem Cell Research, Vol. 17, No. 3, 11.2016, p. 470-473.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1. / Poon, Anna Fong-Yee; Schmid, Benjamin; Pires, Carlota; Nielsen, Troels Tolstrup; Hjermind, Lena Elisabeth; Nielsen, Jørgen Erik; Holst, Bjørn; Hyttel, Poul; Freude, Kristine.

    In: Stem Cell Research, Vol. 17, No. 3, 11.2016, p. 466-469.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Generation of an isogenic, gene-corrected iPSC line from a pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene. / Nimsanor, Natakarn; Poulsen, Ulla; Rasmussen, Mikkel A.; Clausen, Christian; Mau-Holzmann, Ulrike A.; Nielsen, Jørgen E.; Nielsen, Troels T.; Hyttel, Poul; Holst, Bjørn; Schmid, Benjamin.

    In: Stem Cell Research, Vol. 17, No. 3, 11.2016, p. 600-602.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene. / Nimsanor, Natakarn; Kitiyanant, Narisorn; Poulsen, Ulla; Rasmussen, Mikkel A.; Clausen, Christian; Mau-Holzmann, Ulrike A; Nielsen, Jørgen E; Nielsen, Troels T; Hyttel, Poul; Holst, Bjørn; Schmid, Benjamin.

    In: Stem Cell Research, Vol. 17, No. 3, 11.2016, p. 556-559.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene. / Nimsanor, Natakarn; Poulsen, Ulla; Rasmussen, Mikkel A.; Clausen, Christian; Mau-Holzmann, Ulrike A; Nielsen, Jørgen E.; Nielsen, Troels T.; Hyttel, Poul; Holst, Bjørn; Schmid, Benjamin.

    In: Stem Cell Research, Vol. 17, No. 3, 11.2016, p. 576-579.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia. / Nimsanor, Natakarn; Jørring, Ida; Rasmussen, Mikkel A.; Clausen, Christian; Mau-Holzmann, Ulrike A; Kitiyanant, Narisorn; Nielsen, Jørgen E; Nielsen, Troels T; Hyttel, Poul; Holst, Bjørn; Schmid, Benjamin.

    In: Stem Cell Research, Vol. 17, No. 3, 11.2016, p. 564-567.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1. / Pires, Carlota; Schmid, Benjamin; Petræus, Carina; Poon, Anna Fong-Yee; Nimsanor, Natakarn; Nielsen, Troels Tolstrup; Waldemar, Gunhild; Hjermind, Lena Elisabeth; Nielsen, Jørgen Erik; Hyttel, Poul; Freude, Kristine.

    In: Stem Cell Research, Vol. 17, No. 2, 09.2016, p. 285-288.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3. / Hansen, Susanne Kofoed; Stummann, Tina C.; Madsen, Helena Borland; Hasholt, Lis Frydenreich; Tümer, Zeynep; Nielsen, Jørgen Erik; Rasmussen, Mikkel Aabech; Nielsen, Troels Tolstrup; Daechsel, Justus C. A.; Fog, Karina; Hyttel, Poul.

    In: Stem Cell Research, Vol. 17, No. 2, 09.2016, p. 306-317.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Evolution of cerebral PET glucose metabolism from presymptomatic to symtomatic frontotemporal dementia linked to chromosome 3 (FTD-3) - a voxel based SPM analysis. / Johannsen, P.; Law, I.; Hansen, Claus; Roos, P.; Stokholm, Jakob; Isaacs, A. M.; Brown, J.; Nielsen, Jørgen Erik.

    In: Journal of Neurochemistry, Vol. 138, No. S1, 08.2016, p. 375-375.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  39. Published

    TMEM106B and APOE as genetic modifiers of FTD-3 in the Danish CHMP2B family. / Roos, P.; Rostgaard, N.; Johannsen, P.; Brown, J. M.; Isaacs, A. M.; Waldemar, G.; Nielsen, T. T.; Nielsen, Jørgen Erik.

    In: Journal of Neurochemistry, Vol. 138, No. S1, 08.2016, p. 319-320.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  40. Published

    Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B. / Zhang, Yu; Schmid, Benjamin; Nielsen, Troels Tolstrup; Nielsen, Jørgen Erik; Clausen, Christian; Hyttel, Poul; Holst, Bjørn; Freude, Kristine.

    In: Stem Cell Research, Vol. 17, No. 1, 07.2016, p. 148-150.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11. / Hansen, Susanne Kofoed; Borland, Helena; Hasholt, Lis Frydenreich; Tümer, Zeynep; Nielsen, Jørgen Erik; Rasmussen, Mikkel A.; Nielsen, Troels Tolstrup; Stummann, Tina C.; Fog, Karina; Hyttel, Poul.

    In: Stem Cell Research, Vol. 16, No. 3, 05.2016, p. 553-556.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11. / Hansen, Susanne Kofoed; Borland, Helena; Hasholt, Lis Frydenreich; Tümer, Zeynep; Nielsen, Jørgen Erik; Rasmussen, Mikkel A.; Nielsen, Troels Tolstrup; Stummann, Tina C.; Fog, Karina; Hyttel, Poul.

    In: Stem Cell Research, Vol. 16, No. 3, 05.2016, p. 589-592.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting. / Nielsen, Signe Marie Borch; Vinther-Jensen, Tua; Nielsen, Jørgen E.; Nørremølle, Anne; Hasholt, Lis; Hjermind, Lena E.; Josefsen, Knud.

    In: Journal of the Neurological Sciences, Vol. 362, 15.03.2016, p. 326-332.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1. / Li, Tong; Pires, Carlota; Nielsen, Troels Tolstrup; Waldemar, Gunhild; Hjermind, Lena Elisabeth; Nielsen, Jørgen Erik; Dinnyes, Andras; Holst, Bjørn; Hyttel, Poul; Freude, Kristine.

    In: Stem Cell Research, Vol. 16, No. 2, 03.2016, p. 334-337.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1. / Li, Tong; Pires, Carlota; Nielsen, Troels Tolstrup; Waldemar, Gunhild; Hjermind, Lena E.; Nielsen, Jørgen E.; Dinnyes, Andras; Hyttel, Poul; Freude, Kristine K.

    In: Stem Cell Research, Vol. 16, No. 2, 03.2016, p. 229-332.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H196. / Marthaler, Adele Gabriele; Schmid, Benjamin; Tubsuwan, Alisa; Poulsen, Ulla B.; Engelbrecht, Alexander F.; Mau-Holzmann, Ulrike A.; Hyttel, Poul; Nielsen, Jørgen Erik; Nielsen, Troels Tolstrup; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 01.2016, p. 162-165.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266. / Marthaler, Adele Gabriele; Tubsuwan, Alisa; Schmid, Benjamin; Poulsen, Ulla B.; Engelbrecht, Alexander F.; Mau-Holzmann, Ulrike A.; Hyttel, Poul; Nielsen, Troels Tolstrup; Nielsen, Jørgen Erik; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 01.2016, p. 202-205.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271. / Marthaler, Adele Gabriele; Schmid, Benjamin; Tubsuwan, Alisa; Poulsen, Ulla B.; Engelbrecht, Alexander F.; Mau-Holzmann, Ulrike A.; Hyttel, Poul; Nielsen, Jørgen Erik; Nielsen, Troels Tolstrup; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 01.2016, p. 180-183.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1. / Tubsuwan, Alisa; Pires, Carlota; Rasmussen, Mikkel A.; Schmid, Benjamin; Nielsen, Jørgen Erik; Hjermind, Lena Elisabeth; Hall, Vanessa Jane; Nielsen, Troels Tolstrup; Waldemar, Gunhild; Hyttel, Poul; Clausen, Christian; Kitiyanant, Narisorn; Freude, Kristine; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 01.2016, p. 110-112.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196. / Marthaler, Adele Gabriele; Schmid, Benjamin; Tubsuwan, Alisa; Poulsen, Ulla B.; Hyttel, Poul; Nielsen, Troels Tolstrup; Nielsen, Jørgen Erik; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 01.2016, p. 199-201.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266. / Marthaler, Adele Gabriele; Schmid, Benjamin; Tubsuwan, Alisa; Poulsen, Ulla B.; Hyttel, Poul; Nielsen, Troels Tolstrup; Nielsen, Jørgen Erik; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 01.2016, p. 166-169.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271. / Marthaler, Adele Gabriele; Tubsuwan, Alisa; Schmid, Benjamin; Poulsen, Ulla B.; Hyttel, Poul; Nielsen, Jørgen Erik; Nielsen, Troels Tolstrup; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 01.2016, p. 159-161.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT). / Rasmussen, Mikkel A.; Hjermind, Lena E.; Hasholt, Lis F.; Waldemar, Gunhild; Nielsen, Jorgen E.; Clausen, Christian; Hyttel, Poul; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 01.2016, p. 75-78.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Do I misconstrue? Sarcasm detection, emotion recognition, and Theory of Mind in Huntington disease. / Larsen, Ida Unmack; Vinther-Jensen, Tua; Gade, Anders; Nielsen, Jørgen Erik; Vogel, Asmus Mejling.

    In: Neuropsychology, Vol. 30, No. 2, 2016, p. 181-189.

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B. / Zhang, Yu; Schmid, Benjamin; Nielsen, Troels T.; Nielsen, Jørgen E.; Clausen, Christian; Hyttel, Poul; Holst, Bjørn; Freude, Kristine K.

    In: Stem Cell Research, Vol. 17, No. 1, 2016, p. 151-153.

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. Published

    Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT). / Rasmussen, Mikkel A.; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich; Waldemar, Gunhild; Nielsen, Jørgen Erik; Clausen, Christian; Hyttel, Poul; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 2016, p. 70-74.

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. Published

    Induced pluripotent stem cells (iPSCs) derived from af pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia. / Rasmussen, Mikkel A.; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich; Waldemar, Gunhild; Nielsen, Jørgen Erik; Clausen, Christian; Hyttel, Poul; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 2016, p. 105-109.

    Research output: Contribution to journalJournal articleResearchpeer-review

  58. 2015
  59. Published

    Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology. / Clayton, Emma L.; Mizielinska, Sarah; Edgar, James R.; Nielsen, Troels Tolstrup; Marshall, Sarah; Norona, Frances E.; Robbins, Miranda; Damirji, Hana; Holm, Ida E.; Johannsen, Peter; Nielsen, Jorgen E.; Asante, Emmanuel A.; Collinge, John; Isaacs, Adrian M.

    In: Acta Neuropathologica, Vol. 130, No. 4, 10.2015, p. 511-523.

    Research output: Contribution to journalJournal articleResearchpeer-review

  60. Published

    Ubiquitin : a potential cerebrospinal fluid progression marker in Huntington's disease. / Vinther-Jensen, T.; Simonsen, A. H.; Budtz-Jorgensen, E.; Hjermind, L. E.; Nielsen, Jørgen Erik.

    In: European Journal of Neurology, Vol. 22, No. 10, 10.2015, p. 1378-1384.

    Research output: Contribution to journalJournal articleResearchpeer-review

  61. Published

    Assessing Impairment of Executive Function and Psychomotor Speed in Premanifest and Manifest Huntington's Disease Gene-expansion Carriers. / Unmack Larsen, Ida; Vinther-Jensen, Tua; Gade, Anders; Nielsen, Jørgen Erik; Vogel, Asmus.

    In: Journal of the International Neuropsychological Society, Vol. 21, No. 3, 03.2015, p. 193-202.

    Research output: Contribution to journalJournal articleResearchpeer-review

  62. Published

    Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia. / Rostgaard, Nina; Waldemar, Gunhild; Nielsen, Jørgen Erik; Simonsen, Anja Hviid.

    In: Dementia and Geriatric Cognitive Disorders, Vol. 40, No. 1-2, 2015, p. 54-62.

    Research output: Contribution to journalReviewResearchpeer-review

  63. 2014
  64. Published

    Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. / Minocherhomji, Sheroy; Hansen, Claus; Kim, Hyung-Goo; Mang, Yuan; Bak, Mads; Guldberg, Per; Papadopoulos, Nickolas; Eiberg, Hans; Doh, Gerald Dayebga; Møllgård, Kjeld; Hertz, Jens Michael; Nielsen, Jørgen E; Ropers, Hans-Hilger; Tümer, Zeynep; Tommerup, Niels; Kalscheuer, Vera M; Silahtaroglu, Asli.

    In: Human Molecular Genetics, Vol. 23, No. 23, 01.12.2014, p. 6163-6176.

    Research output: Contribution to journalJournal articleResearchpeer-review

  65. Published

    YKL-40 in cerebrospinal fluid in Huntington's disease--a role in pathology or a nonspecific response to inflammation? / Vinther-Jensen, Tua; Budtz-Jørgensen, Esben; Simonsen, Anja H; Nielsen, Jørgen E; Hjermind, Lena E.

    In: Parkinsonism & Related Disorders, Vol. 20, No. 11, 11.2014, p. 1301-3.

    Research output: Contribution to journalLetterResearchpeer-review

  66. Published

    A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntingtons disease. / Vinther-Jensen, Tua; Larsen, Ida U; Hjermind, Lena E; Budtz-Jørgensen, Esben; Nielsen, Troels T; Nørremølle, Anne; Nielsen, Jørgen E; Vogel, Asmus.

    In: Orphanet Journal of Rare Diseases, Vol. 9, No. 1, 114, 17.07.2014, p. 1-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  67. Published

    Frontotemporal dementia and its subtypes : a genome-wide association study. / Ferrari, Raffaele; Hernandez, Dena G; Nalls, Michael A; Rohrer, Jonathan D; Ramasamy, Adaikalavan; Kwok, John B J; Dobson-Stone, Carol; Brooks, William S; Schofield, Peter R; Halliday, Glenda M; Hodges, John R; Piguet, Olivier; Bartley, Lauren; Thompson, Elizabeth; Haan, Eric; Hernández, Isabel; Ruiz, Agustín; Boada, Mercè; Borroni, Barbara; Padovani, Alessandro; Cruchaga, Carlos; Cairns, Nigel J; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Forloni, Gianluigi; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Scarpini, Elio; Clarimón, Jordi; Lleó, Alberto; Blesa, Rafael; Waldö, Maria Landqvist; Nilsson, Karin; Nilsson, Christer; Mackenzie, Ian R A; Hsiung, Ging-Yuek R; Mann, David M A; Grafman, Jordan; Morris, Christopher M; Attems, Johannes; Griffiths, Timothy D; McKeith, Ian G; Thomas, Alan J; Pietrini, P; Huey, Edward D; Wassermann, Eric M; Baborie, Atik; Jaros, Evelyn; Tierney, Michael C; Pastor, Pau; Razquin, Cristina; Ortega-Cubero, Sara; Alonso, Elena; Perneczky, Robert; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Kurz, Alexander; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Rogaeva, Ekaterina; St George-Hyslop, Peter; Rossi, Giacomina; Tagliavini, Fabrizio; Giaccone, Giorgio; Rowe, James B; Schlachetzki, Johannes C M; Uphill, James; Collinge, John; Mead, Simon; Danek, Adrian; Van Deerlin, Vivianna M; Grossman, Murray; Trojanowski, John Q; van der Zee, Julie; Deschamps, William; Van Langenhove, Tim; Cruts, Marc; Van Broeckhoven, Christine; Cappa, Stefano F; Le Ber, Isabelle; Hannequin, Didier; Golfier, Véronique; Vercelletto, Martine; Brice, Alexis; Nacmias, Benedetta; Sorbi, Sandro; Bagnoli, Silvia; Piaceri, Irene; Nielsen, Jørgen E; Hjermind, Lena E; Riemenschneider, Matthias; Mayhaus, Manuel; Ibach, Bernd; Gasparoni, Gilles; Pichler, Sabrina; Gu, Wei; Rossor, Martin N; Fox, Nick C; Warren, Jason D; Spillantini, Maria Grazia; Morris, Huw R; Rizzu, Patrizia; Heutink, Peter; Snowden, Julie S; Rollinson, Sara; Richardson, Anna; Gerhard, Alexander; Bruni, Amalia C; Maletta, Raffaele; Frangipane, Francesca; Cupidi, Chiara; Bernardi, Livia; Anfossi, Maria; Gallo, Maura; Conidi, Maria Elena; Smirne, Nicoletta; Rademakers, Rosa; Baker, Matt; Dickson, Dennis W; Graff-Radford, Neill R; Petersen, Ronald C; Knopman, David; Josephs, Keith A; Boeve, Bradley F; Parisi, Joseph E; Seeley, William W; Miller, Bruce L; Karydas, Anna M; Rosen, Howard; van Swieten, John C; Dopper, Elise G P; Seelaar, Harro; Pijnenburg, Yolande A L; Scheltens, Philip; Logroscino, Giancarlo; Capozzo, Rosa; Novelli, Valeria; Puca, Annibale A; Franceschi, Massimo; Postiglione, Alfredo; Milan, Graziella; Sorrentino, Paolo; Kristiansen, Mark; Chiang, Huei-Hsin; Graff, Caroline; Pasquier, Florence; Rollin, Adeline; Deramecourt, Vincent; Lebert, Florence; Kapogiannis, Dimitrios; Ferrucci, Luigi; Pickering-Brown, Stuart; Singleton, Andrew B; Hardy, John; Momeni, Parastoo.

    In: Lancet Neurology, Vol. 13, No. 7, 07.2014, p. 686-99.

    Research output: Contribution to journalJournal articleResearchpeer-review

  68. Published

    Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer. / Jønch, Aia Elise; Grønskov, Karen; Carlsen Lunding, Jytte Merete; Nielsen, Jørgen E; Brøndum-Nielsen, Karen.

    In: Ugeskrift for Laeger, Vol. 176, No. 26, V02140099, 23.06.2014, p. 2-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  69. Published

    CYP7B1 : novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. / Roos, P; Svenstrup, K; Danielsen, E R; Thomsen, C; Nielsen, J E.

    In: Acta Neurologica Scandinavica, Vol. 129, No. 5, 05.2014, p. 330-4.

    Research output: Contribution to journalJournal articleResearchpeer-review

  70. Published

    Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy. / Mosbech, Mai-Britt; Olsen, Anne S B; Neess, Ditte; Ben-David, Oshrit; Klitten, Laura L; Larsen, Jan; Sabers, Anne; Vissing, John; Nielsen, Jørgen E; Hasholt, Lis; Klein, Andres D; Tsoory, Michael M; Hjalgrim, Helle; Tommerup, Niels; Futerman, Anthony H; Møller, Rikke S; Færgeman, Nils J.

    In: Annals of Clinical and Translational Neurology, Vol. 1, No. 2, 28.02.2014, p. 88-98.

    Research output: Contribution to journalJournal articleResearchpeer-review

  71. Published

    Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. / Nielsen, T T; Svenstrup, K; Duno, M; Nielsen, J E.

    In: Spinal Cord, Vol. 52, No. 1, 01.2014, p. 77-79.

    Research output: Contribution to journalJournal articleResearchpeer-review

  72. Published

    Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease. / Petersen, Maria Hvidberg; Budtz-Jørgensen, Esben; Sørensen, Sven Asger; Nielsen, Jørgen Erik; Hjermind, Lena Elisabeth; Vinther-Jensen, Tua; Nielsen, Signe Marie Borch; Nørremølle, Anne.

    In: Mitochondrion, Vol. 17, 2014, p. 14-21.

    Research output: Contribution to journalJournal articleResearchpeer-review

  73. 2013
  74. Published

    Antisense gene silencing : therapy for neurodegenerative disorders? / Nielsen, Troels T; Nielsen, Jørgen E.

    In: Genes, Vol. 4, No. 3, 10.09.2013, p. 457-84.

    Research output: Contribution to journalJournal articleResearchpeer-review

  75. Published

    The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. / Metzger, Silke; Walter, Carolin; Riess, Olaf; Roos, Raymund A C; Nielsen, Jørgen E; Craufurd, David; Nguyen, Huu Phuc; REGISTRY Investigators of the European Huntington’s Disease Network.

    In: PLOS ONE, Vol. 8, No. 7, 07.2013, p. e68951.

    Research output: Contribution to journalJournal articleResearchpeer-review

  76. Published

    Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. / Lindquist, Sg; Duno, M; Batbayli, M; Puschmann, A; Braendgaard, H; Mardosiene, S; Svenstrup, K; Pinborg, Lh; Vestergaard, K; Hjermind, LE; Stokholm, J; Andersen, Bb; Johannsen, P; Nielsen, Jørgen Erik.

    In: Clinical Genetics, Vol. 83, No. 3, 03.2013, p. 279-283.

    Research output: Contribution to journalJournal articleResearchpeer-review

  77. Published

    Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers : A longitudinal prospective study. / Stokholm, Jette; Teasdale, Thomas W; Johannsen, Peter; Nielsen, Jorgen E; Nielsen, Troels Tolstrup; Isaacs, Adrian; Brown, Jerry M; Gade, Anders; and the Frontotemporal dementia Research in Jutland Association (FReJA) consortium.

    In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 84, No. 2, 02.2013, p. 170-176.

    Research output: Contribution to journalJournal articleResearchpeer-review

  78. Published

    Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. / Vinther-Jensen, Tua; Ek, Jakob; Duno, Morten; Skovby, Flemming; Hjermind, Lena E; Nielsen, Jørgen E; Nielsen, Troels Tolstrup.

    In: European Journal of Human Genetics, Vol. 21, No. 6, 2013, p. 626-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  79. 2012
  80. Published

    Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). / Eiberg, H; Hansen, L; Korbo, L; Nielsen, Inge-Merete; Svenstrup, K; Bech, S; Pinborg, Lh; Friberg, L; Hjermind, LE; Olsen, Or; Nielsen, Jørgen Erik.

    In: Clinical Genetics, Vol. 82, No. 3, 11.2012, p. 256-63.

    Research output: Contribution to journalJournal articleResearchpeer-review

  81. Published

    ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia. / Nielsen, Troels Tolstrup; Svenstrup, Kirsten; Budtz-Jørgensen, Esben; Eiberg, Hans; Hasholt, Lis; Nielsen, Jørgen E.

    In: Journal of the Neurological Sciences, Vol. 321, No. 1-2, 10.2012, p. 100-2.

    Research output: Contribution to journalJournal articleResearchpeer-review

  82. Published

    Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy. / Jønch, Aia E; Danielsen, Else R; Thomsen, Carsten; Meden, Per; Svenstrup, Kirsten; Nielsen, Jørgen Erik.

    In: B M C Neurology, Vol. 12, No. 108, 26.09.2012.

    Research output: Contribution to journalJournal articleResearchpeer-review

  83. Published

    Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference. / Nielsen, Troels Tolstrup; Mizielinska, Sarah; Hasholt, Lis; Isaacs, Adrian M; Nielsen, Jørgen E; the FReJA Consortium.

    In: Journal of Gene Medicine, Vol. 14, No. 8, 08.2012, p. 521-529.

    Research output: Contribution to journalJournal articleResearchpeer-review

  84. Published

    Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene : A case report. / Nielsen, Troels Tolstrup; Mardosiene, Skirmante; Løkkegaard, Annemette; Stokholm, Jette; Ehrenfels, Susanne; Bech, Sara; Friberg, Lars; Nielsen, Jens Kellberg; Nielsen, Jørgen E.

    In: B M C Neurology, Vol. 12, 08.2012, p. 73.

    Research output: Contribution to journalJournal articleResearchpeer-review

  85. Published

    The DJ-1 concentration in cerebrospinal fluid does not differentiate among parkinsonian syndromes. / Salvesen, Lisette; Bech, Sara; Lokkegaard, Annemette; Hjermind, Lena E; Nielsen, Jørgen E; Pakkenberg, Bente; Tanassi, Julia T; Heegaard, Niels H H; Winge, Kristian.

    In: Parkinsonism & Related Disorders, Vol. 18, No. 7, 08.2012, p. 899-901.

    Research output: Contribution to journalJournal articleResearchpeer-review

  86. Published

    CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. / Lee, J-M; Ramos, E M; Lee, J-H; Gillis, T; Mysore, J S; Hayden, M R; Warby, S C; Morrison, P; Nance, M; Ross, C A; Margolis, R L; Squitieri, F; Orobello, S; Di Donato, S; Gomez-Tortosa, E; Ayuso, C; Suchowersky, O; Trent, R J A; McCusker, E; Novelletto, A; 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).

    In: Neurology, Vol. 78, No. 10, 03.2012, p. 690-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  87. Published

    Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI. / Lunau, Line Andersen; Mouridsen, Kim; Rodell, Anders; Ostergaard, Leif; Nielsen, Jørgen Erik; Isaacs, Adrian; Johannsen, Peter; The FReJA Consortium.

    In: BMJ Open, Vol. 2, No. 2, 03.2012.

    Research output: Contribution to journalJournal articleResearchpeer-review

  88. Published

    Amyloid-related biomarkers and axonal damage proteins in parkinsonian syndromes. / Bech, Sara; Hjermind, Lena E; Salvesen, Lisette; Nielsen, Jørgen E; Heegaard, Niels H H; Jørgensen, Henrik L; Rosengren, Lars; Blennow, Kaj; Zetterberg, Henrik; Winge, Kristian.

    In: Parkinsonism & Related Disorders, Vol. 18, No. 1, 2012, p. 69-72.

    Research output: Contribution to journalJournal articleResearchpeer-review

  89. 2011
  90. Published

    Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. / Gavassini, Bruno F; Carboni, Nicola; Nielsen, Jørgen E; Danielsen, Else R; Thomsen, Carsten; Svenstrup, Kirsten; Bello, Luca; Maioli, Maria Antonietta; Marrosu, Giovanni; Ticca, Anna Filomena; Mura, Marco; Marrosu, Maria Giovanna; Soraru, Gianni; Angelini, Corrado; Vissing, John; Pegoraro, Elena.

    In: Muscle & Nerve, Vol. 44, No. 5, 11.2011, p. 703-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  91. Published

    No difference between alfacalcidol and paricalcitol in the treatment of secondary hyperparathyroidism in hemodialysis patients: a randomized crossover trial. / Hansen, Ditte; Rasmussen, Knud; Danielsen, Henning; Meyer-Hofmann, Helmut; Bacevicius, Egidijus; Lauridsen, Thomas Guldager; Madsen, Jens Kristian; Tougaard, Birgitte G; Marckmann, Peter; Thye-Roenn, Peter; Nielsen, Jørgen Erik; Kreiner, Svend; Brandi, Lisbet.

    In: Kidney International, Vol. 80, No. 8, 10.2011, p. 841-850.

    Research output: Contribution to journalJournal articleResearchpeer-review

  92. Published

    NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. / Svenstrup, K; Møller, R S; Christensen, J; Budtz-Jørgensen, E; Nielsen, Mette Gilling; Nielsen, J E.

    In: European journal of neurology : the official journal of the European Federation of Neurological Societies, Vol. 18, No. 9, 01.09.2011, p. 1197-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  93. Published

    Discrepancies in reporting the CAG repeat lengths for Huntington's disease. / Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; Ramos-Arroyo, Maria; Biunno, Ida; Bauer, Peter; Kline, Margaret; Landwehrmeyer, G Bernhard; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich; Nørremølle, Anne; Nielsen, Jørgen Erik; European Huntington’s Disease Network.

    In: European Journal of Human Genetics, Vol. 20, No. 1, 08.2011, p. 20-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  94. Published

    The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders. / Bech, Sara; Nørremølle, Anne; Winge, Kristian; Hasholt, Lis; Tommerup, Niels; Svenstrup, Kirsten; Nielsen, Jørgen E; Hjermind, Lena E.

    In: Parkinsonism & Related Disorders, Vol. 17, No. 5, 01.06.2011, p. 398-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  95. Published

    Frontotemporal dementia caused by CHMP2B mutations. / Isaacs, A M; Johannsen, P; Holm, I; Nielsen, J E; FReJA Consortium.

    In: Current Alzheimer Research, Vol. 8, No. 3, 05.2011, p. 246-51.

    Research output: Contribution to journalJournal articleResearchpeer-review

  96. Published

    Huntington's disease : effect of memantine on FDG-PET brain metabolism? / Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia; Stokholm, Jette; Nielsen, Jørgen Erik.

    In: The Journal of Neuropsychiatry and Clinical Neurosciences, Vol. 23, No. 2, 2011, p. 206-10.

    Research output: Contribution to journalJournal articleResearchpeer-review

  97. Published

    Observing Huntington's disease : the European Huntington's Disease Network's REGISTRY. / Orth, Michael; Handley, O J; Schwenke, C; Dunnett, S; Wild, E J; Tabrizi, S J; Landwehrmeyer, G B; Hasholt, Lis Frydenreich; Hjermind, Lena Elisabeth; Nørremølle, Anne; Nielsen, Jørgen Erik; European Huntington's Disease Network.

    In: The Egyptian Journal of Neurology, Psychiatry, and Neurosurgery, Vol. 82, No. 12, 2011, p. 1409-12.

    Research output: Contribution to journalJournal articleResearchpeer-review

  98. 2010
  99. Published

    Reduced gluconeogenesis and lactate clearance in Huntington's disease. / Josefsen, Knud; Nielsen, Signe M B; Campos, André; Seifert, Thomas; Hasholt, Lis; Nielsen, Jørgen E; Nørremølle, Anne; Skotte, Niels H; Secher, Niels H; Quistorff, Bjørn.

    In: Neurobiology of Disease, Vol. 40, No. 3, 01.12.2010, p. 656-62.

    Research output: Contribution to journalJournal articleResearchpeer-review

  100. Published

    Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. / Lesca, Gaetan; Boutry-Kryza, Nadia; de Toffol, Bertrand; Milh, Mathieu; Steschenko, Dominique; Lemesle-Martin, Martine; Maillard, Louis; Foletti, Giovanni; Rudolf, Gabrielle; Nielsen, Jørgen Erik; á Rogvi-Hansen, Bjarke; Erdal, Jesper; Mancini, Josette; Thauvin-Robinet, Christel; M'Rrabet, Amel; Ville, Dorothée; Szepetowski, Pierre; Raffo, Emmanuel; Hirsch, Edouard; Ryvlin, Philippe; Calender, Alain; Genton, Pierre.

    In: Epilepsia, Vol. 51, No. 9, 01.09.2010, p. 1691-8.

    Research output: Contribution to journalJournal articleResearchpeer-review

  101. Published

    Proteomic investigations of the ventriculo-lumbar gradient in human CSF. / Simonsen, Anja Hviid; Bech, Sara Brynhild Winther; Laursen, Inga; Salvesen, Lisette; Winge, Kristian; Waldemar, Gunhild; Werdelin, Lene; Nielsen, Jørgen Erik; McGuire, James Norton; Hjermind, Lena Elisabeth.

    In: Journal of Neuroscience Methods, Vol. 191, No. 2, 08.2010, p. 244-8.

    Research output: Contribution to journalJournal articleResearchpeer-review

  102. Published

    Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'. / Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile; Danielsen, Else R; Thomsen, Carsten; Rasmussen, Kirsten; Law, Ian; Vogel, Asmus; Stokholm, Jette; Crone, Clarissa; Hjermind, Lena E; Nielsen, Jørgen E; Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile; Danielsen, Else R; Thomsen, Carsten; Rasmussen, Kirsten; Law, Ian; Vogel, Asmus; Stokholm, Jette; Crone, Clarissa; Hjermind, Lena E; Nielsen, Jørgen E.

    In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 81, No. 6, 01.06.2010, p. 666-72.

    Research output: Contribution to journalJournal articleResearchpeer-review

  103. Published

    Behavioral variant of frontotemporal dementia mimicking Huntington's disease. / Nielsen, T Rune; Bruhn, Peter; Nielsen, Jørgen E; Hjermind, Lena E.

    In: International Psychogeriatrics, Vol. 22, No. 4, 2010, p. 674-7.

    Research output: Contribution to journalJournal articleResearchpeer-review

  104. Published

    Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. / Urwin, Hazel; Authier, Astrid; Nielsen, Jørgen Erik; Metcalf, Daniel; Powell, Caroline; Froud, Kristina; Malcolm, Denise S; Holm, Ida; Johannsen, Peter; Brown, Jeremy; Fisher, Elizabeth M C; van der Zee, Julie; Bruyland, Marc; FReJA Consortium; Van Broeckhoven, Christine; Collinge, John; Brandner, Sebastian; Futter, Clare; Isaacs, Adrian M.

    In: Human Molecular Genetics, Vol. 19, No. 11, 2010, p. 2228-38.

    Research output: Contribution to journalJournal articleResearchpeer-review

  105. Published

    FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. / Urwin, Hazel; Josephs, Keith A; Rohrer, Jonathan D; Mackenzie, Ian R; Neumann, Manuela; Authier, Astrid; Seelaar, Harro; Van Swieten, John C; Brown, Jeremy M; Johannsen, Peter; Nielsen, Jørgen Erik; Holm, Ida E; FReJA Consortium; Dickson, Dennis W; Rademakers, Rosa; Graff-Radford, Neill R; Parisi, Joseph E; Petersen, Ronald C; Hatanpaa, Kimmo J; White, Charles L; Weiner, Myron F; Geser, Felix; Van Deerlin, Vivianna M; Trojanowski, John Q; Miller, Bruce L; Seeley, William W; van der Zee, Julie; Kumar-Singh, Samir; Engelborghs, Sebastiaan; De Deyn, Peter P; Van Broeckhoven, Christine; Bigio, Eileen H; Deng, Han-Xiang; Halliday, Glenda M; Kril, Jillian J; Munoz, David G; Mann, David M; Pickering-Brown, Stuart M; Doodeman, Valerie; Adamson, Gary; Ghazi-Noori, Shabnam; Fisher, Elizabeth M C; Holton, Janice L; Revesz, Tamas; Rossor, Martin N; Collinge, John; Mead, Simon; Isaacs, Adrian M.

    In: Acta Neuropathologica, Vol. 120, No. 1, 2010, p. 33-41.

    Research output: Contribution to journalJournal articleResearchpeer-review

  106. Published

    Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. / Bech, Sara; Petersen, Thor; Nørremølle, Anne; Gjedde, Albert; Ehlers, Lise; Eiberg, Hans; Hjermind, Lena E; Hasholt, Lis; Lundorf, Erik; Nielsen, Jørgen E.

    In: Parkinsonism & Related Disorders, Vol. 16, No. 1, 2010, p. 12-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  107. Published

    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, S G; Hjermind, Lena Elisabeth; Andersen, B B; Wallin, A; Nilsson, C; Petersén, A.

    In: European Journal of Neurology, Vol. 17, No. 3, 2010, p. 456-60.

    Research output: Contribution to journalJournal articleResearchpeer-review

  108. 2009
  109. Published

    4p16.3 haplotype modifying age at onset of Huntington disease. / Nørremølle, A; Budtz-Jørgensen, E; Fenger, K; Nielsen, Jørgen Erik; Sørensen, S A; Hasholt, L.

    In: Clinical Genetics, Vol. 75, No. 3, 2009, p. 244-50.

    Research output: Contribution to journalJournal articleResearchpeer-review

  110. Published

    A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. / Puschmann, Andreas; Ross, Owen A; Vilariño-Güell, Carles; Lincoln, Sarah J; Kachergus, Jennifer M; Cobb, Stephanie A; Lindquist, Suzanne G; Nielsen, Jørgen Erik; Wszolek, Zbigniew K; Farrer, Matthew; Widner, Håkan; van Westen, Danielle; Hägerström, Douglas; Markopoulou, Katerina; Chase, Bruce A; Nilsson, Karin; Reimer, Jan; Nilsson, Christer.

    In: Parkinsonism & Related Disorders, Vol. 15, No. 9, 2009, p. 627-32.

    Research output: Contribution to journalJournal articleResearchpeer-review

  111. Published

    Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort. / Lindquist, S G; Schwartz, M; Batbayli, M; Waldemar, G; Nielsen, Jørgen Erik.

    In: Clinical Genetics, Vol. 76, No. 2, 2009, p. 205-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  112. Published

    Huntington's disease does not appear to increase the risk of diabetes mellitus. / Boesgaard, T W; Nielsen, Troels Tolstrup; Josefsen, Knud Elnegaard; Hansen, T; Jørgensen, T; Pedersen, O; Nørremølle, A; Nielsen, Jørgen Erik; Hasholt, L.

    In: Journal of Neuroendocrinology, Vol. 21, No. 9, 2009, p. 770-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  113. Published

    Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation. / Rohrer, Jonathan D; Ahsan, R Laila; Isaacs, Adrian M; Nielsen, Jørgen Erik; Ostergaard, Leif; Scahill, Rachael; Warren, Jason D; Rossor, Martin N; Fox, Nick C; Johannsen, Peter; FReJA Consortium.

    In: Dementia and Geriatric Cognitive Disorders, Vol. 27, No. 2, 2009, p. 182-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  114. Published

    Reduced CSF CART in dementia with Lewy bodies. / Schultz, Kristofer; Wiehager, Sara; Nilsson, Karin; Nielsen, Jørgen E; Lindquist, Suzanne G; Hjermind, Lena E; Andersen, Birgitte B; Wallin, Anders; Nilsson, Christer; Petersén, Asa.

    In: Neuroscience Letters, Vol. 453, No. 2, 2009, p. 104-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  115. Published

    Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. / Svenstrup, Kirsten; Bross, Peter; Koefoed, Pernille; Hjermind, Lena E; Eiberg, Hans; Born, A Peter; Vissing, John; Gyllenborg, Jesper; Nørremølle, Anne; Hasholt, Lis; Nielsen, Jørgen E; Svenstrup, Kirsten; Bross, Peter; Koefoed, Pernille; Hjermind, Lena E; Eiberg, Hans; Born, A Peter; Vissing, John; Gyllenborg, Jesper; Nørremølle, Anne; Hasholt, Lis; Nielsen, Jørgen E.

    In: Journal of the Neurological Sciences, Vol. 284, No. 1-2, 2009, p. 90-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  116. 2008
  117. Published

    Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers. / Eskildsen, Simon F; Østergaard, Lasse R; Rodell, Anders B; Østergaard, Leif; Nielsen, Jørgen E; Isaacs, Adrian M; Johannsen, Peter.

    In: NeuroImage, Vol. 45, No. 3, 2008, p. 713-21.

    Research output: Contribution to journalJournal articleResearchpeer-review

  118. Published

    [Hereditary Parkinson disease. The Danish Society of Movement Disorders]. / Hjermind, L.E.; Nielsen, Jørgen Erik.

    In: Ugeskrift for læger, Vol. 170, No. 12, 2008, p. 1016-.

    Research output: Contribution to journalJournal articleResearchpeer-review

  119. 2005
  120. Published

    Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia. / Scheuer, Kristin H; Nielsen, Jørgen E; Krabbe, Katja; Simonsen, Carina; Koefoed, Pernille; Sørensen, Sven A; Gade, Anders; Paulson, Olaf B; Law, Ian.

    In: Journal of the Neurological Sciences, Vol. 235, No. 1-2, 2005, p. 23-32.

    Research output: Contribution to journalJournal articleResearchpeer-review

  121. 2004
  122. Published

    Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. / Nielsen, Jørgen Erik; Johnson, B; Koefoed, Pernille; Scheuer, K.H.; Grønbech-Jensen, M.; Law, I.; Krabbe, K.; Nørremølle, Anne; Eiberg, Hans Rudolf Lytchoff; Søndergård, H.; Dam, M.; Rehfeld, J.F.; Krarup, C.; Paulson, O.B.; Hasholt, Lis Frydenreich; Sørensen, Sven Asger.

    In: European Journal of Neurology, Vol. 11, No. 12, 2004, p. 817-824.

    Research output: Contribution to journalJournal articleResearchpeer-review

  123. Published

    Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. / Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne; Jensen, Lisa Neerup; Nørremølle, Anne; Hasholt, Lis.

    In: Prenatal Diagnosis, Vol. 24, No. 5, 2004, p. 363-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  124. 2002
  125. Published

    Possible autocrine loop of the epidermal growth factor system in patients with benign prostatic hyperplasia treated with finasteride: a placebo-controlled randomized study. / Tørring, Niels; Jensen, Klaus Møller-Ernst; Lund, L; Nielsen, J E; Djurhuus, Jens Christian; Poulsen, S S; Nexø, Ebba; Poulsen, Steen Seier.

    In: B J U International (Print), Vol. 89, No. 6, 01.04.2002, p. 583-90.

    Research output: Contribution to journalJournal articleResearchpeer-review

  126. 1996
  127. Published

    Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family. / Nielsen, Jørgen Erik; Sørensen, Sven Asger; Hasholt, Lis Frydenreich; Nørremølle, Anne.

    In: Movement Disorders, Vol. 11, No. 5, 1996, p. 533-541.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 9689629