Lis Frydenreich Hasholt

Lis Frydenreich Hasholt

Associate Professor, Guest Researcher


Publication year:
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1 - 73 out of 73Page size: 500
  1. 2022
  2. 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, Backer, Vibeke, Kistorp, Caroline Michaela Nervil & Feldt-Rasmussen, Ulla, 2022, In: PLoS ONE. 17, 11, e0277767.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. 2021
  4. 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

  5. 2020
  6. 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. 2343-2347

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. 2019
  8. 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

  9. 2018
  10. 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

  11. 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. 118-129

    Research output: Contribution to journal › Journal article › Research › peer-review

  12. 2017
  13. 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

  14. 2016
  15. 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

  16. 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. 1605-1614

    Research output: Contribution to journal › Journal article › Research › peer-review

  17. 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

  18. Published

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

    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. 589-592 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  19. Published

    Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

    Nielsen, S. M. B., Vinther-Jensen, T., Nielsen, Jørgen Erik, Nørremølle, Anne, Hasholt, Lis Frydenreich, Hjermind, L. E. & Josefsen, K., 15 Mar 2016, In: Journal of the Neurological Sciences. 362, p. 326-332 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  20. Published

    Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

    Vinther-Jensen, T., Nielsen, T. T., Budtz-Joergensen, Esben, Larsen, I. U., Hansen, M. M., Hasholt, Lis Frydenreich, Hjermind, L. E., Nielsen, J. E. & Nørremølle, Anne, Mar 2016, In: Clinical Genetics. 89, 3, p. 320-327 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  21. Published

    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

  22. Published

    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

  23. Published

    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

  24. 2015
  25. Published

    Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington's Disease Mouse Model R6/2

    Nielsen, S. M. B., Hasholt, Lis Frydenreich, Nørremølle, Anne & Josefsen, K. E., 20 Apr 2015, In: PLoS Currents. 7

    Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

  26. 2014
  27. Published

    Three-Week Bright-Light Intervention Has Dose-Related Effects on Threat-Related Corticolimbic Reactivity and Functional Coupling

    Fisher, P. M., Madsen, M. K., Mc Mahon, B., Holst, K. K., Andersen, S. B., Laursen, H. R., Hasholt, Lis Frydenreich, Siebner, Hartwig Roman & Knudsen, Gitte Moos, 15 Aug 2014, In: Biological Psychiatry. 76, 4, p. 332-339 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  28. 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

  29. Published

    p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin

    Ehrnhoefer, D. E., Skotte, Niels Henning, Ladha, S., Nguyen, Y. T. N., Qiu, X., Deng, Y., Huynh, K. T., Engemann, S., Nielsen, S. M., Becanovic, K., Leavitt, B. R., Hasholt, Lis Frydenreich & Hayden, M. R., 1 Feb 2014, In: Human Molecular Genetics. 23, 3, p. 717-29 13 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  30. 2013
  31. Published

    Localization of A11-reactive oligomeric species in prion diseases

    Aidt, F. H., Hasholt, Lis Frydenreich, Christiansen, M. & Laursen, H., Jun 2013, In: Histopathology. 62, 7, p. 994-1001 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  32. Published

    Dysfunctional mitochondrial respiration in the striatum of the Huntington's disease transgenic R6/2 mouse model

    Aidt, F. H., Nielsen, S. M. B., Kanters, Jørgen K., Pesta, D., Nielsen, T. T., Nørremølle, Anne, Hasholt, Lis Frydenreich, Christiansen, M. & Hagen, C. M., 2013, In: PLoS Currents. 5

    Research output: Contribution to journal › Journal article › Research › peer-review

  33. 2012
  34. Published

    ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

    Nielsen, T. T., Svenstrup, K., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Hasholt, Lis Frydenreich & Nielsen, Jørgen Erik, Oct 2012, In: Journal of the Neurological Sciences. 321, 1-2, p. 100-2 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  35. Published

    Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference

    Nielsen, T. T., Mizielinska, S., Hasholt, Lis Frydenreich, Isaacs, A. M., Nielsen, Jørgen Erik & the FReJA Consortium, T. F. C., Aug 2012, In: Journal of Gene Medicine. 14, 8, p. 521-529 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  36. Published

    Three weeks of daily exposure to bright light does not alter striatal serotonin transporter binding in healthy Scandinavians

    Mc Mahon, B., Andersen, A. S., Feng, L., Madsen, M. K., Lehel, S., Herth, Matthias Manfred, Iversen, P., Hasholt, Lis Frydenreich & Knudsen, G. M., Aug 2012, In: Journal of Cerebral Blood Flow and Metabolism. 32, p. S79-S80

    Research output: Contribution to journal › Journal article › Research › peer-review

  37. Published

    CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

    Lee, J-M., Ramos, E. M., Lee, J-H., Gillis, T., Mysore, J. S., Hayden, M. R., Warby, S. C., Morrison, P., Nance, M., Ross, C. A., Margolis, R. L., Squitieri, F., Orobello, S., Di Donato, S., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R. J. A., McCusker, E., Novelletto, A. & 22 others, Frontali, M., Jones, R., Ashizawa, T., Frank, S., Saint-Hilaire, M. H., Hersch, S. M., Rosas, H. D., Lucente, D., Harrison, M. B., Zanko, A., Abramson, R. K., Marder, K., Sequeiros, J., Paulsen, J. S., Landwehrmeyer, G. B., Myers, R. H., MacDonald, M. E., Gusella, J. F., Hasholt, Lis Frydenreich, Nørremølle, Anne, Nielsen, Jørgen Erik & PREDICT-HD study of the Huntington Study Group (HSG), P. S. O. T. H. S. G. (., Mar 2012, In: Neurology. 78, 10, p. 690-5 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  38. 2011
  39. Published

    Discrepancies in reporting the CAG repeat lengths for Huntington's disease

    Quarrell, O. W., Handley, O., O'Donovan, K., Dumoulin, C., Ramos-Arroyo, M., Biunno, I., Bauer, P., Kline, M., Landwehrmeyer, G. B., Hjermind, L. E., Hasholt, Lis Frydenreich, Nørremølle, Anne, Nielsen, Jørgen Erik & European Huntington’s Disease Network, E. H. D. N., Aug 2011, In: European Journal of Human Genetics. 20, 1, p. 20-6 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  40. Published

    The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders

    Bech, S., Nørremølle, Anne, Winge, K., Hasholt, Lis Frydenreich, Tommerup, Niels, Svenstrup, K., Nielsen, Jørgen Erik & Hjermind, L. E., 1 Jun 2011, In: Parkinsonism & Related Disorders. 17, 5, p. 398-9 2 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  41. Published

    Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion

    Feldt-Rasmussen, Ulla, Dobrovolny, R., Nazarenko, I., Ballegaard, Martin, Hasholt, Lis Frydenreich, Rasmussen, A. K., Christensen, E. I., Sørensen, Søren Schwartz, Wibrand, F. & Desnick, R. J., 2011, In: Molecular Genetics and Metabolism. 104, 3, p. 314-8 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  42. Published

    Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

    Orth, M., Handley, O. J., Schwenke, C., Dunnett, S., Wild, E. J., Tabrizi, S. J., Landwehrmeyer, G. B., Hasholt, Lis Frydenreich, Hjermind, L. E., Nørremølle, Anne, Nielsen, Jørgen Erik & European Huntington's Disease Network, E. H. D. N., 2011, In: The Egyptian Journal of Neurology, Psychiatry, and Neurosurgery. 82, 12, p. 1409-12 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  43. 2010
  44. Published

    Reduced gluconeogenesis and lactate clearance in Huntington's disease

    Josefsen, K., Nielsen, S. M. B., Campos, A., Seifert, T., Hasholt, Lis Frydenreich, Nielsen, Jørgen Erik, Nørremølle, Anne, Skotte, Niels Henning, Secher, Niels H. & Quistorff, B., 1 Dec 2010, In: Neurobiology of Disease. 40, 3, p. 656-62 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  45. Published

    Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

    Havndrup, O., Christiansen, M., Stoevring, B., Jensen, M., Hoffman-Bang, J., Andersen, P. S., Hasholt, L., Nørremølle, A., Feldt-Rasmussen, U., Køber, L., Bundgaard, H., Havndrup, O., Christiansen, M., Stoevring, B., Jensen, M., Hofman-Bang, J., Andersen, P. S., Hasholt, L. F., Nørremølle, A., Feldt-Rasmussen, U. & 2 others, Køber, Lars Valeur & Bundgaard, H., 1 Jun 2010, In: European Journal of Heart Failure. 12, 6, p. 535-40 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  46. Published

    Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

    Bech, S., Petersen, T., Nørremølle, Anne, Gjedde, Albert, Ehlers, L., Eiberg, Hans Rudolf Lytchoff, Hjermind, L. E., Hasholt, Lis Frydenreich, Lundorf, E. & Nielsen, Jørgen Erik, 2010, In: Parkinsonism & Related Disorders. 16, 1, p. 12-5 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  47. 2009
  48. Published

    Autonomic skin responses in females with Fabry disease

    Møller, A. T., Bach, F. W., Feldt-Rasmussen, Ulla, Rasmussen, A. K., Hasholt, Lis Frydenreich, Sommer, C., Kølvraa, S. & Jensen, T. S., 1 Sep 2009, In: Journal of the Peripheral Nervous System Online. 14, 3, p. 159-64 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  49. Published

    4p16.3 haplotype modifying age at onset of Huntington disease

    Nørremølle, Anne, Budtz-Joergensen, Esben, Fenger, K., Nielsen, Jørgen Erik, Sørensen, S. A. & Hasholt, Lis Frydenreich, 2009, In: Clinical Genetics. 75, 3, p. 244-50 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  50. Published

    Functional and structural nerve fiber findings in heterozygote patients with Fabry disease

    Torvin, M. A., Winther, B. F., Feldt-Rasmussen, Ulla, Rasmussen, A., Hasholt, Lis Frydenreich, Lan, H., Sommer, C., Kolvraa, S., Ballegaard, Martin & Staehelin, J. T., 2009, In: Pain. 145, 1-2, p. 237-245 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  51. Published

    Huntington's disease does not appear to increase the risk of diabetes mellitus

    Boesgaard, T. W., Nielsen, T. T., Josefsen, K. E., Hansen, T., Jørgensen, T., Pedersen, O., Nørremølle, Anne, Nielsen, Jørgen Erik & Hasholt, Lis Frydenreich, 2009, In: Journal of Neuroendocrinology. 21, 9, p. 770-6 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  52. Published

    Neuron-specific RNA interference using lentiviral vectors

    Nielsen, T. T., Marion, I. V., Hasholt, Lis Frydenreich & Lundberg, C., 2009, In: Journal of Gene Medicine. 11, 7, p. 559-69 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  53. Published

    Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

    Aziz, N. A., Jurgens, C. K., Landwehrmeyer, G. B., EHDN Registry Study Group, E. R. S. G., van Roon-Mom, W. M. C., van Ommen, G. J. B., Stijnen, T., Roos, R. A. C. & Hasholt, Lis Frydenreich, 2009, In: Neurology. 73, 16, p. 1280-5 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  54. Published

    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, Hasholt, L. & Nielsen, J. E., 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

  55. 2008
  56. Published

    A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment

    Lindquist, S. G., Hasholt, Lis Frydenreich, Bahl, J. M. C., Heegaard, N. H. H., Andersen, B. B., Nørremølle, Anne, Stokholm, J., Schwartz, M., Batbayli, M., Laursen, H., Pardossi-Piquard, R., Chen, F., George-Hyslop, P. S., Waldemar, Gunhild & Nielsen, J. E., 2008, In: European Journal of Neurology. 15, 10, p. 1135-1139 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  57. Published

    GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells

    Vestergaard, J., Lind-Thomsen, A., Pedersen, M. W., Jarmer, H. O., Bak, M., Hasholt, Lis Frydenreich, Tommerup, Niels, Tümer, Asuman Zeynep & Larsen, Lars Allan, 2008, In: DNA and Cell Biology. 27, 5, p. 251-U16

    Research output: Contribution to journal › Journal article › Research › peer-review

  58. Published

    Impaired glucose tolerance in the R6/1 transgenic mouse model of Huntington's disease

    Josefsen, K., Nielsen, M. D., Jorgensen, K. H., Bock, T., Nørremølle, Anne, Sørensen, S. A., Naver, B. & Hasholt, Lis Frydenreich, 2008, In: Journal of Neuroendocrinology. 20, 2, p. 165-172 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  59. 2007
  60. Published

    Drosophila deoxyribonucleoside kinase mutants with enhanced ability to phosphorylate purine analogs

    Knecht, W., Rozpedowska, E., Breton, C. L., Willer, M., Gojkovic, Z., Sandrini, M. P. B., Jørgensen, T., Hasholt, Lis Frydenreich, Munch-Petersen, B. & Piskur, J., 2007, In: Gene Therapy. 14, 17, p. 1278-1286 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  61. Published

    Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density

    Mersebach, H., Johansson, J. O., Rasmussen, A. K., Bengtsson, B. A., Rosenberg, K., Hasholt, Lis Frydenreich, Sørensen, S. A., Sørensen, S. S. & Feldt-Rasmussen, Ulla, 2007, In: Genetics In Medicine. 9, 12, p. 812-818 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  62. 2006
  63. Published

    Meiotic CAG repeat instability in spinocerebellar ataxia type 6: Maternally transmitted elongation in a presumed sporadic case

    Lindquist, S. G., Nørremølle, Anne, Hjermind, L. E., Hasholt, Lis Frydenreich & Nielsen, J. E., 2006, In: Journal of the Neurological Sciences. 241, 1-2, p. 95-98 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  64. Published

    Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin

    Moller, A. T., Feldt-Rasmussen, U., Rasmussen, A. K., Sommer, C., Hasholt, Lis Frydenreich, Bach, F. W., Kolvraa, S. & Jensen, T. S., 2006, In: Journal of the Peripheral Nervous System. 11, 2, p. 119-125 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  65. 2004
  66. Published

    Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

    Nielsen, Jørgen Erik, Johnson, B., Koefoed, P., Scheuer, K. H., Grønbech-Jensen, M., Law, I., Krabbe, K., Nørremølle, Anne, Eiberg, Hans Rudolf Lytchoff, Søndergård, H., Dam, M., Rehfeld, J. F., Krarup, C., Paulson, Olaf B., Hasholt, Lis Frydenreich & Sørensen, S. A., 2004, In: European Journal of Neurology. 11, 12, p. 817-824 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  67. Published

    Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins

    Nørremølle, Anne, Hasholt, Lis Frydenreich, Petersen, C. B., Eiberg, Hans Rudolf Lytchoff, Hasselbalch, S. G., Gideon, P., Nielsen, J. E. & Sørensen, S. A., 2004, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 130, p. 154-159

    Research output: Contribution to journal › Journal article › Research › peer-review

  68. Published

    Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    Nielsen, Jørgen Erik, Koefoed, P., Kjaergaard, S., Jensen, L. N., Nørremølle, Anne & Hasholt, Lis Frydenreich, 2004, In: Prenatal Diagnosis. 24, 5, p. 363-6 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  69. 2003
  70. Published

    Antisense downregulation of mutant huntingtin in a cell model

    Hasholt, Lis Frydenreich, Abell, K., Nørremølle, Anne, Nellemann, C., Fenger, K. & Sørensen, S. A., 2003, In: Journal of Gene Medicine. Vol. 5, p. 528-538

    Research output: Contribution to journal › Journal article › Research › peer-review

  71. Published

    Cells exposed to a huntingtin fragment containing an expanded polyglutamine tract show no sign of ion channel formation: results arguing against the ion channel hypothesis.

    Nørremølle, Anne, Grunnet, Morten, Hasholt, Lis Frydenreich & Sørensen, S. A., 2003, In: Journal of Neuroscience Research. 71, 1, p. 132-7 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  72. Published

    Molecular And Behavioral Analysis of the R6/1 Huntington's Disease Transgenic Mouse

    Naver, B., Stub, C., Møller, M., Fenger, K., Hansen, A. K., Hasholt, Lis Frydenreich & Sørensen, S. A., 2003, In: Neuroscience. Vol. 122, p. 1049-1057

    Research output: Contribution to journal › Journal article › Research › peer-review

  73. Published

    Molecular and Behavioral Characteristics of the R6/1 mouse model of Huntington´s Disease

    Naver, B., Stub, C., Møller, Morten, Fenger, K., Hansen, A. K., Hasholt, Lis Frydenreich & Sørensen, S. A., 2003, In: Neuroscience. Vol. 122, p. 1049-1057

    Research output: Contribution to journal › Journal article › Research › peer-review

  74. 2002
  75. Published

    Fabry Disease - A Metabolic Disorder with a Challenge for Endocrinologists ?

    Feldt-Rasmussen, U., Rasmussen, Å. K., Mersebach, H., Rosenberg, K. M., Hasholt, Lis Frydenreich & Sørensen, S. A., 2002, In: Hormone Reseach. vol. 58, p. 259-265

    Research output: Contribution to journal › Journal article › Research › peer-review

  76. Published

    Fabry disease: a new challenge in endocrinology and metabolism?

    Feldt-Rasmussen, U., Rasmussen, Å. K., Mersebach, H., Rosenberg, K. M., Hasholt, Lis Frydenreich & Sørensen, S. A., 2002, In: European Journal of Endocrinology. vol. 146, p. 741-742

    Research output: Contribution to journal › Journal article › Research › peer-review

  77. 2001
  78. Published

    Fabrys sygdom - specifik terapi nu mulig

    Rasmussen, A. K., Mersebach, H., Hasholt, Lis Frydenreich, Rosenberg, K. M., Sørensen, S. A. & Feldt-Rasmussen, U., 2001, In: Ugeskrift for læger. Vol.163, p. 5382

    Research output: Contribution to journal › Journal article › Research › peer-review

  79. Published

    Identical mutations in different families with Fabry disease are usually due to different mutation events

    Rosenberg, K. M., Schiffmann, R., Kaneski, C., Brady, R. O., Sørensen, S. A. & Hasholt, Lis Frydenreich, 2001, In: Journal of Inherited Metabolic Disease. 24, Suppl. 2., p. 129

    Research output: Contribution to journal › Journal article › Research › peer-review

  80. Published

    Phenotypic variability in the same family with Fabry disease

    Parini, R., Menni, F., Fesslova, V., Gioventu, M., Ravaglia, R., Brambillasca, F., Bertagnoglio, B. & Hasholt, Lis Frydenreich, 2001, In: Journal of Inherited Metabolic Disease. 24, Suppl.2, p. 151

    Research output: Contribution to journal › Journal article › Research › peer-review

  81. Published

    Platelet serotonin transporters and the transporter gene in control subjects, unipolar patients and bipolar patients

    Mellerup, Erling Thyge, Bennike, B. G., Bolwig, T. G., Dam, H. O., Hasholt, Lis Frydenreich, Jørgensen, M. B., Plenge, P. K. & Sørensen, S. A., 2001, In: Acta Psychiatrica Scandinavica. 103, p. 229-233

    Research output: Contribution to journal › Journal article › Research › peer-review

  82. 2000
  83. Published

    Five new mutations in fourteen families with Fabry disease

    Rosenberg, K. M., Schiffmann, R., Kaneski, C., Brady, R. O., Sørensen, S. A. & Hasholt, Lis Frydenreich, 2000, In: Human Mutation. 15, p. 207-208

    Research output: Contribution to journal › Journal article › Research › peer-review

  84. Published

    Haplotype and AGG-Interspersion Analysis of FMR1 (CGG)n Alleles in the Danish Population: Implications for Multiple Mutational Pathways Towards Fragile X Alleles

    Larsen, L. A., Amstrong, J. S. M., Grønskov, K., Hjalgrim, H., Macpherson, J. N., Brøndum-Nielsen, K., Hasholt, Lis Frydenreich, Nørgaard-Pedersen, B. & Vuust, J., 2000, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. 93, p. 99-106

    Research output: Contribution to journal › Journal article › Research › peer-review

  85. Published

    Inhibition of Huntingtin synthesis by antisense oligodeoxynucleotides

    Nellemann, C. L., Abell, K., Nørremølle, Anne, Løkkegaard, T., Naver, B., Röpke, C., Rygaard, J., Sørensen, S. A. & Hasholt, Lis Frydenreich, 2000, In: Molecular and Cellular Neuroscience. 16, p. 313-323

    Research output: Contribution to journal › Journal article › Research › peer-review

  86. 1999
  87. Published

    Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: Implications for the population of the New World from Asia

    Larsen, L. A., Armstrong, J. S. M., Grønskov, K., Hjalgrim, H., Brøndum-Nielsen, K., Hasholt, Lis Frydenreich, Nørgaard-Pedersen, B. & Vuust, J., 1999, In: European Journal of Human Genetics. 7, p. 771-777

    Research output: Contribution to journal › Journal article › Research › peer-review

  88. 1998
  89. Published

    Autosomal dominant pure spastic paraplegia: A clinical, paraclinical and genetic study

    Nielsen, J. E., Krabbe, K., Jennum, P., Koefoed, P., Jensen, L. N., Fenger, K., Eiberg, Hans Rudolf Lytchoff, Hasholt, Lis Frydenreich, Werdelin, L. & Sørensen, S. A., 1998, In: Journal of Neurology, Neurosurgery and Psychiatry. 64, p. 61-66

    Research output: Contribution to journal › Journal article › Research › peer-review

  90. Published

    Machado-Joseph disease in three Scandinavian families

    Løkkegaard, T., Nielsen, J. E., Hasholt, Lis Frydenreich, Fenger, K., Werdelin, L., Tranebjærg, Lisbeth, Lauritzen, Martin, Colding-Jørgensen, E., Grønbech-Jensen, M., Henriksen, O. A. & Sørensen, S. A., 1998, In: Journal of Neurological Sciences. 156, 2, p. 152-157

    Research output: Contribution to journal › Journal article › Research › peer-review

  91. Published

    Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1

    Koefoed, P., Hasholt, Lis Frydenreich, Fenger, K., Nielsen, J. E., Eiberg, Hans Rudolf Lytchoff, Buschard, K. & Sørensen, S. A., 1998, In: Human Genetics. 103, p. 564-569

    Research output: Contribution to journal › Journal article › Research › peer-review

  92. 1997
  93. Published

    High-throughput analysis of Fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis

    Larsen, Lars Allan, Grønskov, K., Nørgaard-Pedersen, B., Brøndum-Nielsen, K., Hasholt, Lis Frydenreich & Vuunst, J., 1997, In: Human Genetics. 100, p. 564-568

    Research output: Contribution to journal › Journal article › Research › peer-review

  94. Published

    The molecular diagnosis of spinocerebellar ataxia type 1 in patients with ataxia

    Koefoed, P., Nielsen, J. E., Hasholt, Lis Frydenreich, Jensen, P. K. A., Fenger, K. & Sørensen, S. A., 1997, In: European Journal of Neurology. 4, p. 586-592

    Research output: Contribution to journal › Journal article › Research › peer-review

  95. 1996
  96. Published

    Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family.

    Nielsen, Jørgen Erik, Sørensen, S. A., Hasholt, Lis Frydenreich & Nørremølle, Anne, 1996, In: Movement Disorders. 11, 5, p. 533-541 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  97. Published

    Electrophysiological Findings in a Danish Family with Machado-Joseph Disease

    Colding-Jørgensen, E., Sørensen, S. A., Hasholt, Lis Frydenreich & Lauritzen, M., 1996, In: Muscle & Nerve. 19, p. 743-750

    Research output: Contribution to journal › Journal article › Research

  98. 1995
  99. Published

    Elongated CAG repeats of the B37 gene in a Danish family with dentatorubro-pallido-luysian atrophy

    Nørremølle, Anne, Nielsen, J. E., Sørensen, S. A. & Hasholt, Lis Frydenreich, 1995, In: Human Genetics. 95, p. 313-318

    Research output: Contribution to journal › Journal article › Research › peer-review

  100. 1993
  101. Published

    Klinisk genetik og forebyggelse

    Hasholt, Lis Frydenreich, 1993, In: Maanedsskrift for Praktisk Laegegerning. 9, p. 771-774

    Research output: Contribution to journal › Journal article › Research › peer-review

ID: 12125