Jørgen Erik Nielsen
Clinical Professor
Department of Clinical Medicine
Rigshospitalet - Neurocentret, Blegdamsvej 9, 2100 København Ø
- 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 journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
ID: 9689629
Most downloads
-
470
downloads
Patient iPSC-derived neurons for disease modeling of frontotemporal dementia with mutation in CHMP2B
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
141
downloads
Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
140
downloads
Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11
Research output: Contribution to journal › Journal article › Research › peer-review
Published