Jørgen Erik Nielsen
Clinical Professor
- 2015
- Published
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology
Clayton, E. L., Mizielinska, S., Edgar, J. R., Nielsen, T. T., Marshall, S., Norona, F. E., Robbins, M., Damirji, H., Holm, I. E., Johannsen, P., Nielsen, Jørgen Erik, Asante, E. A., Collinge, J. & Isaacs, A. M., Oct 2015, In: Acta Neuropathologica. 130, 4, p. 511-523 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia
Rostgaard, N., Waldemar, Gunhild, Nielsen, Jørgen Erik & Simonsen, A. H., 2015, In: Dementia and Geriatric Cognitive Disorders. 40, 1-2, p. 54-62 9 p.Research output: Contribution to journal › Review › Research › peer-review
- Published
Assessing Impairment of Executive Function and Psychomotor Speed in Premanifest and Manifest Huntington's Disease Gene-expansion Carriers
Unmack Larsen, I., Vinther-Jensen, T., Gade, A., Nielsen, Jørgen Erik & Vogel, Asmus, Mar 2015, In: Journal of the International Neuropsychological Society. 21, 3, p. 193-202 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Ubiquitin: a potential cerebrospinal fluid progression marker in Huntington's disease
Vinther-Jensen, T., Simonsen, A. H., Budtz-Joergensen, Esben, Hjermind, L. E. & Nielsen, Jørgen Erik, Oct 2015, In: European Journal of Neurology. 22, 10, p. 1378-1384 7 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
- Published
Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort
Nielsen, T. T., Svenstrup, K., Duno, M. & Nielsen, Jørgen Erik, Jan 2014, In: Spinal Cord. 52, 1, p. 77-79 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease
Petersen, M. H., Budtz-Joergensen, Esben, Sørensen, S. A., Nielsen, Jørgen Erik, Hjermind, L. E., Vinther-Jensen, T., Nielsen, S. M. B. & Nørremølle, Anne, 2014, In: Mitochondrion. 17, p. 14-21 8 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
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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