Jørgen Erik Nielsen
Clinical Professor
- 2011
- Published
No difference between alfacalcidol and paricalcitol in the treatment of secondary hyperparathyroidism in hemodialysis patients: a randomized crossover trial
Hansen, D., Rasmussen, K., Danielsen, H., Meyer-Hofmann, H., Bacevicius, E., Lauridsen, T. G., Madsen, J. K., Tougaard, B. G., Marckmann, P., Thye-Roenn, P., Nielsen, Jørgen Erik, Kreiner, Svend & Brandi, Lisbet, Oct 2011, In: Kidney International. 80, 8, p. 841-850 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Huntington's disease: effect of memantine on FDG-PET brain metabolism?
Hjermind, L. E., Law, Ian, Jønch, A., Stokholm, J. & Nielsen, Jørgen Erik, 2011, In: The Journal of Neuropsychiatry and Clinical Neurosciences. 23, 2, p. 206-10 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Frontotemporal dementia caused by CHMP2B mutations
Isaacs, A. M., Johannsen, P., Holm, I., Nielsen, Jørgen Erik & FReJA Consortium, F. C., May 2011, In: Current Alzheimer Research. 8, 3, p. 246-51 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY
Orth, M., Handley, O. J., Schwenke, C., Dunnett, S., Wild, E. J., Tabrizi, S. J., Landwehrmeyer, G. B., Hasholt, Lis Frydenreich, Hjermind, L. E., Nørremølle, Anne, Nielsen, Jørgen Erik & European Huntington's Disease Network, E. H. D. N., 2011, In: The Egyptian Journal of Neurology, Psychiatry, and Neurosurgery. 82, 12, p. 1409-12 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Discrepancies in reporting the CAG repeat lengths for Huntington's disease
Quarrell, O. W., Handley, O., O'Donovan, K., Dumoulin, C., Ramos-Arroyo, M., Biunno, I., Bauer, P., Kline, M., Landwehrmeyer, G. B., Hjermind, L. E., Hasholt, Lis Frydenreich, Nørremølle, Anne, Nielsen, Jørgen Erik & European Huntington’s Disease Network, E. H. D. N., Aug 2011, In: European Journal of Human Genetics. 20, 1, p. 20-6 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Personality disintegration - it runs in the family
Stokholm, J., Johannsen, P., Nielsen, Jørgen Erik & Gade, A., 2011, Case studies in Dementia: Common and uncommon presentations. Gautier, S. & Rosa-Neto, P. (eds.). Cambridge University Press, p. 115-123 9 p. (Case Studies in Neurology ).Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Communication
- Published
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy
Svenstrup, K., Møller, R. S., Christensen, J., Budtz-Joergensen, Esben, Nielsen, M. G. & Nielsen, Jørgen Erik, 1 Sep 2011, In: European journal of neurology : the official journal of the European Federation of Neurological Societies. 18, 9, p. 1197-9 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2012
- Published
Amyloid-related biomarkers and axonal damage proteins in parkinsonian syndromes
Bech, S., Hjermind, L. E., Salvesen, Lisette, Nielsen, Jørgen Erik, Heegaard, N. H. H., Jørgensen, Henrik Løvendahl, Rosengren, L., Blennow, K., Zetterberg, H. & Winge, K., 2012, In: Parkinsonism & Related Disorders. 18, 1, p. 69-72 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Korbo, L., Nielsen, I., Svenstrup, K., Bech, S., Pinborg, L., Friberg, L., Hjermind, L., Olsen, O. & Nielsen, Jørgen Erik, Nov 2012, In: Clinical Genetics. 82, 3, p. 256-63 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy
Jønch, A. E., Danielsen, E. R., Thomsen, C., Meden, Per, Svenstrup, K. & Nielsen, Jørgen Erik, 26 Sep 2012, In: B M C Neurology. 12, 108, 4 p.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. & 22 others, , Mar 2012, In: Neurology. 78, 10, p. 690-5 6 p.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, L. A., Mouridsen, K., Rodell, A., Ostergaard, L., Nielsen, Jørgen Erik, Isaacs, A., Johannsen, P. & The FReJA Consortium, T. F. C., Mar 2012, In: BMJ Open. 2, 2Research output: Contribution to journal › Journal article › Research › peer-review
- Published
ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia
Nielsen, T. T., Svenstrup, K., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Hasholt, Lis Frydenreich & Nielsen, Jørgen Erik, Oct 2012, In: Journal of the Neurological Sciences. 321, 1-2, p. 100-2 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference
Nielsen, T. T., Mizielinska, S., Hasholt, Lis Frydenreich, Isaacs, A. M., Nielsen, Jørgen Erik & the FReJA Consortium, T. F. C., Aug 2012, In: Journal of Gene Medicine. 14, 8, p. 521-529 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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, T. T., Mardosiene, S., Løkkegaard, Annemette, Stokholm, J., Ehrenfels, S., Bech, S., Friberg, L., Nielsen, J. K. & Nielsen, Jørgen Erik, Aug 2012, In: B M C Neurology. 12, p. 73Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The DJ-1 concentration in cerebrospinal fluid does not differentiate among parkinsonian syndromes
Salvesen, Lisette, Bech, S., Løkkegaard, Annemette, Hjermind, L. E., Nielsen, Jørgen Erik, Pakkenberg, B., Tanassi, J. T., Heegaard, N. H. H. & Winge, K., Aug 2012, In: Parkinsonism & Related Disorders. 18, 7, p. 899-901 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2013
- Published
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
Lindquist, S., Duno, M., Batbayli, M., Puschmann, A., Braendgaard, H., Mardosiene, S., Svenstrup, K., Pinborg, L., Vestergaard, K., Hjermind, L., Stokholm, J., Andersen, B., Johannsen, P. & Nielsen, Jørgen Erik, Mar 2013, In: Clinical Genetics. 83, 3, p. 279-283 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients
Metzger, S., Walter, C., Riess, O., Roos, R. A. C., Nielsen, Jørgen Erik, Craufurd, D., Nguyen, H. P. & REGISTRY Investigators of the European Huntington’s Disease Network, R. I. O. T. E. H. D. N., Jul 2013, In: PLOS ONE. 8, 7, p. e68951Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Antisense gene silencing: therapy for neurodegenerative disorders?
Nielsen, T. T. & Nielsen, Jørgen Erik, 10 Sep 2013, In: Genes. 4, 3, p. 457-84 28 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: A longitudinal prospective study
Stokholm, J., Teasdale, T. W., Johannsen, P., Nielsen, Jørgen Erik, Nielsen, T. T., Isaacs, A., Brown, J. M., Gade, A. & and the Frontotemporal dementia Research in Jutland Association (FReJA) consortium, A. T. F. D. R. I. J. A. (. C., Feb 2013, In: Journal of Neurology, Neurosurgery and Psychiatry. 84, 2, p. 170-176 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2
Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, Jørgen Erik & Nielsen, T. T., 2013, In: European Journal of Human Genetics. 21, 6, p. 626-9 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2014
- Published
Frontotemporal dementia and its subtypes: a genome-wide association study
Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A. & 138 others, , Jul 2014, In: Lancet Neurology. 13, 7, p. 686-99 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer
Jønch, A. E., Grønskov, K., Carlsen Lunding, J. M., Nielsen, Jørgen Erik & Brøndum-Nielsen, K., 23 Jun 2014, In: Ugeskrift for Laeger. 176, 26, p. 2-6 5 p., V02140099.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia
Minocherhomji, S., Hansen, C., Kim, H., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, Hans Rudolf Lytchoff, Doh, G. D., Møllgård, Kjeld, Hertz, J. M., Nielsen, Jørgen Erik, Ropers, H., Tümer, Asuman Zeynep, Tommerup, Niels, Kalscheuer, V. M. & Silahtaroglu, Asli, 1 Dec 2014, In: Human Molecular Genetics. 23, 23, p. 6163-6176 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy
Mosbech, M., Olsen, A. S. B., Neess, D., Ben-David, O., Klitten, L. L., Larsen, J., Sabers, A., Vissing, John, Nielsen, Jørgen Erik, Hasholt, Lis Frydenreich, Klein, A. D., Tsoory, M. M., Hjalgrim, H., Tommerup, Niels, Futerman, A. H., Møller, R. S. & Færgeman, N. J., 28 Feb 2014, In: Annals of Clinical and Translational Neurology. 1, 2, p. 88-98 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 9689629
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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 -
331
downloads
Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
300
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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