Lis Frydenreich Hasholt
Associate Professor, Guest Researcher
Department of Cellular and Molecular Medicine
Blegdamsvej 3, Building: 24.4.46
2200 2200 København N
Medical Genetics Program
Blegdamsvej 3
2200 København N.
- 2022
- Published
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
Effraimidis, G., Rasmussen, Å. K., Dunoe, M., Hasholt, L. F., Wibrand, F., Sorensen, S. S., Lund, A. M., Kober, L., Bundgaard, H., Yazdanfard, P. D. W., Oturai, P., Larsen, V. A., de Abreu, V. H. F., Enevoldsen, L. H., Kristensen, T., Svenstrup, K., Bille, M. B., Arif, F., Mogensen, M., Klokker, M. & 3 others, , 2022, In: PLoS ONE. 17, 11, e0277767.Research output: Contribution to journal › Journal article › Research › peer-review
- 2021
- Published
CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity
Perez, B. A., Shorrock, H. K., Banez-Coronel, M., Zu, T., Romano, L. E., Laboissonniere, L. A., Reid, T., Ikeda, Y., Reddy, K., Gomez, C. M., Bird, T., Ashizawa, T., Schut, L. J., Brusco, A., Berglund, J. A., Hasholt, Lis Frydenreich, Nielsen, Jørgen Erik, Subramony, S. H. & Ranum, L. P., 8 Nov 2021, In: EMBO Molecular Medicine. 13, 11, 15 p., e14095.Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- Published
Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene
Bech, S., Løkkegaard, Annemette, Nielsen, T. T., Nørremølle, Anne, Grønborg, S., Hasholt, Lis Frydenreich, Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, Niels, Mang, Y., Bak, M., Nielsen, Jørgen Erik, Eiberg, Hans Rudolf Lytchoff & Hjermind, L. E., 2020, In: Movement Disorders. 35, 12, p. 2343-2347Research output: Contribution to journal › Journal article › Research › peer-review
- 2019
- Published
Ghrelin-mediated improvements in the metabolic phenotype in the R6/2 mouse model of Huntington's disease
Rudenko, Olga, Springer, C., Skov, Louise Julie, Madsen, A. N., Hasholt, Lis Frydenreich, Nørremølle, Anne & Holst, Birgitte, 2019, In: Journal of Neuroendocrinology. 31, 7 (SI), 14 p., e12699.Research output: Contribution to journal › Conference article › Research › peer-review
- 2018
- Published
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease in 2 Danish families
Feldt-Rasmussen, Ulla, Hasholt, Lis Frydenreich, Ballegaard, Martin, Christiansen, M., Law, Ian, Lund, A., Nørremølle, Anne, Ravn, K., Rasmussen, A. K., Tuemer, Z., Bundgård, Henning & Wibrand, F., Feb 2018, In: Molecular Genetics and Metabolism. 123, 2, p. S44-S44 1 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington's disease model
Reynolds, R. H., Petersen, M. H., Willert, C. W., Heinrich, M., Nymann, N., Dall, M., Treebak, Jonas Thue, Björkqvist, M., Silahtaroglu, Asli, Hasholt, Lis Frydenreich & Nørremølle, Anne, 2018, In: Molecular and Cellular Neuroscience. 88, p. 118-129Research output: Contribution to journal › Journal article › Research › peer-review
- 2017
- Published
The D313Y variant in the GLA gene–no evidence of a pathogenic role in Fabry disease
Hasholt, Lis Frydenreich, Ballegaard, Martin, Bundgård, Henning, Christiansen, M., Law, Ian, Lund, Allan Meldgaard, Nørremølle, Anne, Krogh Rasmussen, A., Ravn, K., Tümer, Asuman Zeynep, Wibrand, F. & Feldt-Rasmussen, Ulla, 2017, In: Scandinavian Journal of Clinical and Laboratory Investigation. 77, 8, p. 617-621 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2016
- Published
Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3
Hansen, S. K., Stummann, T. C., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Daechsel, J. C. A., Fog, K. & Hyttel, P., Sep 2016, In: Stem Cell Research. 17, 2, p. 306-317 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Seasonal difference in brain serotonin transporter binding predicts symptom severity in patients with seasonal affective disorder
Mc Mahon, B., Andersen, S. B., Madsen, M. K., Hjordt, L. V., Pedersen, I. H., Dam, H., Svarer, C., da Cunha-Bang, S., Baare, W., Madsen, J., Hasholt, Lis Frydenreich, Holst, K., Frokjaer, V. G. & Knudsen, G. M., 1 May 2016, In: Brain. 139, p. 1605-1614Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11
Hansen, S. K., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., May 2016, In: Stem Cell Research. 16, 3, p. 553-556 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 12125
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329
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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 -
297
downloads
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 -
277
downloads
Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3
Research output: Contribution to journal › Journal article › Research › peer-review
Published