Research output per year
Research output per year
Personal profile
Expertises
Clinical and paraclinical aspects including molecular genetics and functional molecular biology of inherited neurodegenerative disorders.
Main research areas
Spinocerebellar ataxia type 2 (SCA2), Huntington's Disease, Frontotemporal dementia caused by CHMP2B mutation (FTD3) and Hereditary Spastic Paraplegia.
"Current research
Elucidating the pathogenic mechanisms of spinocerebellar ataxia 2 (SCA2) by genetically manipulating primary patient cells and assessing their response to drugs affecting the proteostatic system.
Huntington’s Disease: Endophenotypes, biomarkers and pluripotent stem cell-derived neuronal models.
Clinical and molecular aspects of frontotemporal dementia linked to chromosome 3 (FTD3)
Potential conflicts of interest
None
External positions
University of Copenhagen
2005 → …
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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A role of CD20+ T cells in early multiple sclerosis
von Essen, M. R., Hansen, M. M., El Mahdaoui, S., Hvalkof, V. H., Hansen, R. H., Nielsen, J. E., Frederiksen, J. & Sellebjerg, F., 2025, In: Frontiers in Immunology. 16, 1582535.Research output: Contribution to journal › Journal article › Research › peer-review
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Hereditary Ataxias: A Genetic Epidemiological Study of a Danish Clinical Cohort
Kayser, J. D., Waerling, R. D., Lindquist, S. G., Duno, M., Nielsen, J. E. & Vinther-Jensen, T., Jan 2025, In: Acta Neurologica Scandinavica. 2025, 1, 1614771.Research output: Contribution to journal › Journal article › Research › peer-review
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Immunological Fluid Biomarkers in Frontotemporal Dementia: A Systematic Review
Erichsen, P. A., Henriksen, E. E., Nielsen, J. E., Ejlerskov, P., Simonsen, A. H. & Toft, A., 24 Mar 2025, In: Biomolecules. 15, 4, 473.Research output: Contribution to journal › Review › peer-review
3 Citations (Scopus) -
Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark
Videbæk, C. S., Dunø, M., Lindquist, S. G., Larsen, V. A., Kjær, M. W., Melgaard, L., Nielsen, J. E., Grønborg, S. W. & Lund, A. M., Dec 2025, In: Molecular Genetics and Metabolism. 146, 4, p. 109265 109265.Research output: Contribution to journal › Journal article › Research › peer-review
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Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort
Waerling, R. D., Blechingberg, J., Kayser, J., Lindquist, S. G., Vinther-Jensen, T., Nielsen, J. E. & Duno, M., 14 Mar 2025, In: Cerebellum. 24, 3, p. 61 61.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus)