Personal profile
Expertises
neurodegeneration; neuroscience; genetics; molecular biology; induced pluripotent stem cells (iPSC); gene editing (CRISPR/Cas9)
Main research areas
familial forms of neurodegenerative disorders e.g. familial forms of dementia (Alzheimer disease, frontotemporal dementia), spinocerebellar ataxias etc;
Current research
Finding underlying molecular mechanisms in frontotemporal dementia and spinocerebellar ataxia using patient derived primary cell cultures and induced pluripotent stem cells derived from relevant patients. Participant in the collaborative projects, Stemmad and Brainstem, on neurodegeneration and stem cells.
Potential conflicts of interest
None
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Collaborations and top research areas from the last five years
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Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients
Mou, Y., Nandi, G., Mukte, S., Chai, E., Chen, Z., Nielsen, J. E., Nielsen, T. T., Criscuolo, C., Blackstone, C., Fraidakis, M. J. & Li, X.-J., 6 Apr 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 72.Research output: Contribution to journal › Journal article › Research › peer-review
8 Citations (Scopus) -
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, J. E., 2023, In: Alzheimer's & dementia (Amsterdam, Netherlands). 15, 1, e12402.Research output: Contribution to journal › Journal article › Research › peer-review
3 Citations (Scopus) -
Golgi fragmentation - One of the earliest organelle phenotypes in Alzheimer's disease neurons
Haukedal, H., Corsi, G. I., Gadekar, V. P., Doncheva, N. T., Kedia, S., de Haan, N., Chandrasekaran, A., Jensen, P., Schiønning, P., Vallin, S., Marlet, F. R., Poon, A., Pires, C., Agha, F. K., Wandall, H. H., Cirera, S., Simonsen, A. H., Nielsen, T. T., Nielsen, J. E. & Hyttel, P. & 7 others, , 2023, In: Frontiers in Neuroscience. 17, 1120086.Research output: Contribution to journal › Journal article › Research › peer-review
25 Citations (Scopus) -
Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients
Hellem, M. N. N., Cheong, R. Y., Tonetto, S., Vinther-Jensen, T., Hendel, R. K., Larsen, I. U., Nielsen, T. T., Hjermind, L. E., Vogel, A., Budtz-Jørgensen, E., Petersén, Å. & Nielsen, J. E., Jun 2022, In: Parkinsonism & related disorders. 99, p. 23-29 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
12 Citations (Scopus) -
Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia
Karlsson, W. K., Højgaard, J. L. S., Vilhelmsen, A., Crone, C., Andersen, B., Law, I., Møller, L. B., Nielsen, T. T., Nielsen, E. N., Krag, T., Svenstrup, K. & Nielsen, J. E., Jun 2022, In: Cerebellum. 21, 3, p. 514-519 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
1 Citation (Scopus)