Jørgen Erik Nielsen
Clinical Professor
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Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT)
Rasmussen, M. A., Hjermind, L. E., Hasholt, Lis Frydenreich, Waldemar, Gunhild, Nielsen, Jørgen Erik, Clausen, C., Hyttel, P. & Holst, B., 2016, In: Stem Cell Research. 16, 1, p. 70-74 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Induced pluripotent stem cells (iPSCs) derived from af pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia
Rasmussen, M. A., Hjermind, L. E., Hasholt, Lis Frydenreich, Waldemar, Gunhild, Nielsen, Jørgen Erik, Clausen, C., Hyttel, P. & Holst, B., 2016, In: Stem Cell Research. 16, 1, p. 105-109 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT)
Rasmussen, M. A., Hjermind, L. E., Hasholt, Lis Frydenreich, Waldemar, Gunhild, Nielsen, Jørgen Erik, Clausen, C., Hyttel, P. & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 75-78 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes
Reus, L. M., Pasaniuc, B., Posthuma, D., Boltz, T., 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., Hernández, I., Ruiz, A. & 139 others, , 2021, In: Biological Psychiatry. 89, 8, p. 825-835 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation
Rohrer, J. D., Ahsan, R. L., Isaacs, A. M., Nielsen, Jørgen Erik, Ostergaard, L., Scahill, R., Warren, J. D., Rossor, M. N., Fox, N. C., Johannsen, P. & FReJA Consortium, F. C., 2009, In: Dementia and Geriatric Cognitive Disorders. 27, 2, p. 182-6 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A
Roos, P., Svenstrup, K., Danielsen, E. R., Thomsen, C. & Nielsen, Jørgen Erik, May 2014, In: Acta Neurologica Scandinavica. 129, 5, p. 330-4 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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TMEM106B and APOE as genetic modifiers of FTD-3 in the Danish CHMP2B family
Roos, P., Rostgaard, N., Johannsen, P., Brown, J. M., Isaacs, A. M., Waldemar, G., Nielsen, T. T. & Nielsen, Jørgen Erik, Aug 2016, In: Journal of Neurochemistry. 138, S1, p. 319-320Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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Inflammatory markers of CHMP2B-mediated frontotemporal dementia
Roos, P., von Essen, Marina Rode, Nielsen, T. T., Johannsen, P., Stokholm, J., Bie, A. S., Waldemar, Gunhild, Simonsen, A. H., Heslegrave, A., Zetterberg, H., FReJA Consortium, F. C., Sellebjerg, Finn Thorup & Nielsen, Jørgen Erik, 2018, In: Journal of Neuroimmunology. 324, p. 136-142 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival
Roos, P., Johannsen, P., Lindquist, Suzanne Granhøj, Brown, J. M., Waldemar, Gunhild, Duno, M., Nielsen, T. T., Budtz-Joergensen, Esben, Gydesen, S., Holm, I. E., Collinge, J., Isaacs, A. M. & Nielsen, Jørgen Erik, 2022, In: Acta Neurologica Scandinavica. 145, 5, p. 529-540 12 p.Research output: Contribution to journal › Review › Research › peer-review
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TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)
Rostgaard, N., Roos, P., Budtz-Joergensen, Esben, Johannsen, P., Waldemar, Gunhild, Nørremølle, Anne, Lindquist, S. G., Gydesen, S., Brown, J. M., Collinge, J., Isaacs, A. M., Nielsen, T. T., Nielsen, Jørgen Erik & FReJA collaboration, F. C., Nov 2017, In: Neurobiology of Aging. 59, p. 221.e1-221.e7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers
Rostgaard, N., Roos, P., Portelius, E., Blennow, K., Zetterberg, H., Simonsen, A. H. & Nielsen, Jørgen Erik, 2018, In: Neurology. 90, 2, p. e157-e163Research output: Contribution to journal › Journal article › Research › peer-review
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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Roux, T., Barbier, M., Papin, M., Davoine, C. S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Van Maldergen, L., van Broeckhoven, C., Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A. & 31 others, , 1 Nov 2020, In: Genetics in Medicine. 22, 11, p. 1851-1862 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia
Scheuer, K. H., Nielsen, Jørgen Erik, Krabbe, K., Simonsen, C., Koefoed, P., Sørensen, S. A., Gade, A., Paulson, Olaf B. & Law, Ian, 2005, In: Journal of the Neurological Sciences. 235, 1-2, p. 23-32 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Transthyretin as a potential CSF biomarker for Alzheimer's disease and dementia with Lewy bodies: effects of treatment with cholinesterase inhibitors
Schultz, K., Nilsson, K., Nielsen, Jørgen Erik, Lindquist, Suzanne Granhøj, Hjermind, L. E., Andersen, B. B., Wallin, A., Nilsson, C. & Petersén, A., 2010, In: European Journal of Neurology. 17, 3, p. 456-60 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Reduced CSF CART in dementia with Lewy bodies
Schultz, K., Wiehager, S., Nilsson, K., Nielsen, Jørgen Erik, Lindquist, Suzanne Granhøj, Hjermind, L. E., Andersen, B. B., Wallin, A., Nilsson, C. & Petersén, A., 2009, In: Neuroscience Letters. 453, 2, p. 104-6 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Defining active progressive multiple sclerosis
Sellebjerg, Finn Thorup, Börnsen, L., Ammitzbøll, C., Nielsen, Jørgen Erik, Vinther-Jensen, T., Hjermind, L. E., von Essen, M., Ratzer, R. L., Sørensen, Per Soelberg & Romme Christensen, J., 2017, In: Multiple Sclerosis. 23, 13, p. 1727-1735Research output: Contribution to journal › Journal article › Research › peer-review
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Proteomic investigations of the ventriculo-lumbar gradient in human CSF
Simonsen, A. H., Bech, S. B. W., Laursen, I., Salvesen, Lisette, Winge, K., Waldemar, Gunhild, Werdelin, L., Nielsen, Jørgen Erik, McGuire, J. N. & Hjermind, L. E., Aug 2010, In: Journal of Neuroscience Methods. 191, 2, p. 244-8 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Quality control for plasma and cerebrospinal fluid samples using mass spectrometry
Skotte, N. H., Geyer, P. E., Steger, M., Treit, P. V., Voytik, E., Hellem, M. N., Nielsen, Jørgen Erik & Mann, Matthias, 2018, In: Journal of Neurology, Neurosurgery and Psychiatry. 89, p. A31-A32Research output: Contribution to journal › Conference abstract in journal › Research
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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
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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
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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
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SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy
Svenstrup, K., Nielsen, T. T., Aidt, F., Rostgaard, N., Duno, M., Wibrand, F., Vinther-Jensen, T., Law, Ian, Vissing, John, Roos, P., Hjermind, L. E. & Nielsen, Jørgen Erik, Feb 2017, In: The Cerebellum. 16, 1, p. 62-67 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia
Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A., Hasholt, L., Nielsen, J. E., Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A. & 2 others, , 2009, In: Journal of the Neurological Sciences. 284, 1-2, p. 90-5 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'
Svenstrup, K., Giraud, G., Boespflug-Tanguy, O., Danielsen, E. R., Thomsen, C., Rasmussen, K., Law, I., Vogel, A., Stokholm, J., Crone, C., Hjermind, L. E., Nielsen, J. E., Svenstrup, K., Giraud, G., Boespflug-Tanguy, O., Danielsen, E. R., Thomsen, C., Rasmussen, K., Law, I., Vogel, A. & 4 others, , 1 Jun 2010, In: Journal of Neurology, Neurosurgery and Psychiatry. 81, 6, p. 666-72 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia
International Frontotemporal Dementia Genomics Consortium, I. F. D. G. C., Ferrari, R., Rohrer, J. D., Ramasamy, A., Nielsen, Jørgen Erik, Hjermind, L. E., Lebouvier, T., Ferrucci, L. & Kapogiannis, D., 2019, In: Nature Medicine. 25, p. 152-164Research output: Contribution to journal › Journal article › Research › peer-review
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Hereditary cerebral small vessel disease and stroke
Søndergaard, C. B., Nielsen, Jørgen Erik, Hansen, C. K. & Christensen, Hanne Krarup, Apr 2017, In: Clinical Neurology and Neurosurgery. 155, p. 45-57 13 p.Research output: Contribution to journal › Review › Research › peer-review
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Relationship between cerebrospinal fluid biomarkers of inflammation and tissue damage in primary progressive multiple sclerosis
Talbot, J., Højsgaard Chow, H., Mahler, M., Buhelt, S., Hansen, Rikke Holm, Lundell, H., Vinther-Jensen, T., Hellem, M. N. N., Nielsen, Jørgen Erik, Siebner, Hartwig Roman, von Essen, Marina Rode & Sellebjerg, Finn Thorup, 2022, In: Multiple Sclerosis and Related Disorders. 68, 104209.Research output: Contribution to journal › Journal article › Research › peer-review
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Mania triggered by levodopa treatment in a patient with frontotemporal dementia caused by A C9orf72 repeat expansion: A case report
Thorlacius-Ussing, G., Nielsen, Jørgen Erik, Law, Ian, Hansen, H. V. & Andersen, B. B., 2020, In: Clinical Neurology and Neurosurgery. 198, 3 p., 106147.Research output: Contribution to journal › Journal article › Research › peer-review
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Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
Toft, A., Birk, S., Ballegaard, Martin, Dunø, M., Hjermind, L. E., Nielsen, Jørgen Erik & Svenstrup, K., Mar 2019, In: Journal of Neurology. 266, 3, p. 735-744 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Endo-lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by CHMP2B mutation
Toft, A., Sjödin, S., Simonsen, A. H., Ejlerskov, P., Roos, P., Musaeus, C. S., Henriksen, E. E., Nielsen, T. T., Brinkmalm, A., Blennow, K., Zetterberg, H. & Nielsen, Jørgen Erik, 2023, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 15, 1, 9 p., e12402.Research output: Contribution to journal › Journal article › Research › peer-review
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Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1
Tubsuwan, A., Pires, C., Rasmussen, M. A., Schmid, B., Nielsen, Jørgen Erik, Hjermind, L. E., Hall, Vanessa Jane, Nielsen, T. T., Waldemar, Gunhild, Hyttel, P., Clausen, C., Kitiyanant, N., Freude, Kristine & Holst, B., Jan 2016, In: Stem Cell Research. 16, 1, p. 110-112 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Possible autocrine loop of the epidermal growth factor system in patients with benign prostatic hyperplasia treated with finasteride: a placebo-controlled randomized study
Tørring, N., Jensen, K. M., Lund, Line, Nielsen, Jørgen Erik, Djurhuus, J. C., Poulsen, S. S., Nexø, E. & Poulsen, Steen Seier, 1 Apr 2002, In: B J U International (Print). 89, 6, p. 583-90 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
Urwin, H., Josephs, K. A., Rohrer, J. D., Mackenzie, I. R., Neumann, M., Authier, A., Seelaar, H., Van Swieten, J. C., Brown, J. M., Johannsen, P., Nielsen, J. E., Holm, I. E., FReJA Consortium, Dickson, D. W., Rademakers, R., Graff-Radford, N. R., Parisi, J. E., Petersen, R. C., Hatanpaa, K. J., White, C. L. & 28 others, , 2010, In: Acta Neuropathologica. 120, 1, p. 33-41 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
Urwin, H., Authier, A., Nielsen, Jørgen Erik, Metcalf, D., Powell, C., Froud, K., Malcolm, D. S., Holm, I., Johannsen, P., Brown, J., Fisher, E. M. C., van der Zee, J., Bruyland, M., FReJA Consortium, F. C., Van Broeckhoven, C., Collinge, J., Brandner, S., Futter, C. & Isaacs, A. M., 2010, In: Human Molecular Genetics. 19, 11, p. 2228-38 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review
Videbæk, C., Stokholm, J., Sengeløv, Henrik, Fjeldborg, L. U., Larsen, V. A., Krarup, Christian, Nielsen, Jørgen Erik & Grønborg, S., 2021, In: JIMD Reports. 60, 1, p. 96-104 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntingtons disease
Vinther-Jensen, T., Larsen, I. U., Hjermind, L. E., Budtz-Joergensen, Esben, Nielsen, T. T., Nørremølle, Anne, Nielsen, Jørgen Erik & Vogel, Asmus, 17 Jul 2014, In: Orphanet Journal of Rare Diseases. 9, 1, p. 1-9 9 p., 114.Research output: Contribution to journal › Journal article › Research › peer-review
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YKL-40 in cerebrospinal fluid in Huntington's disease--a role in pathology or a nonspecific response to inflammation?
Vinther-Jensen, T., Budtz-Joergensen, Esben, Simonsen, A. H., Nielsen, Jørgen Erik & Hjermind, L. E., Nov 2014, In: Parkinsonism & Related Disorders. 20, 11, p. 1301-3 3 p.Research output: Contribution to journal › Letter › Research › peer-review
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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
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Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease
Vinther-Jensen, T., Börnsen, L. S., Budtz-Joergensen, Esben, Ammitzboll, C., Larsen, I. U., Hjermind, L. E., Sellebjerg, Finn Thorup & Nielsen, Jørgen Erik, Dec 2016, In: Neurology: Neuroimmunology & Neuroinflammation. 3, 6, e287.Research output: Contribution to journal › Journal article › Research › peer-review
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Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells
Wardman, Jonathan Henry, Henriksen, E. E., Marthaler, A. G., Nielsen, Jørgen Erik & Nielsen, T. T., Apr 2020, In: Cerebellum (London, England). 19, 2, p. 165-181 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B
Zhang, Y., Schmid, B., Nielsen, T. T., Nielsen, Jørgen Erik, Clausen, C., Hyttel, P., Holst, B. & Freude, Kristine, 2016, In: Stem Cell Research. 17, 1, p. 151-153 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Patient iPSC-derived neurons for disease modeling of frontotemporal dementia with mutation in CHMP2B
Zhang, Y., Schmid, B., Qas Younan, N. K., Rasmussen, M. A., Garcia, B. I. A., Agger, M., Callø, K., Stummann, T. C., Larsen, H. M., Nielsen, T. T., Huang, J., Xu, F., Liu, X., Bolund, L., Meyer, M., Bak, L. K., Waagepetersen, H. S., Luo, Y., Nielsen, J. E., Consortium, T. FRA. & 4 others, , 2017, In: Stem Cell Reports. 8, 3, p. 648-658Research output: Contribution to journal › Journal article › Research › peer-review
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Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B
Zhang, Y., Schmid, B., Nielsen, T. T., Nielsen, Jørgen Erik, Clausen, C., Hyttel, P., Holst, B. & Freude, Kristine, Jul 2016, In: Stem Cell Research. 17, 1, p. 148-150 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Positive association between cholesterol in human seminal plasma and sperm counts: results from a cross-sectional cohort study and immunohistochemical investigations
de Neergaard, R., Nielsen, Jørgen Erik, Jørgensen, Anders, Toft, B. G., Goetze, J. P. & Jørgensen, N., 2018, In: Andrology. 6, 6, p. 817-828Research output: Contribution to journal › Journal article › Research › peer-review
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Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)
Ásbjörnsdóttir, B., Henriksen, O. M., Lindquist, Suzanne Granhøj, Møller, L. B., Sidaros, A. & Nielsen, Jørgen Erik, 2022, In: BMJ Case Reports. 15, 3, e248228.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
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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11
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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