Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor


  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. Published
  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

    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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

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