Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor


  1. Published
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  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

    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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

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