Lis Frydenreich Hasholt

Lis Frydenreich Hasholt

Associate professor


  1. 2019
  2. Published

    Ghrelin-mediated improvements in the metabolic phenotype in the R6/2 mouse model of Huntington's disease. / Rudenko, Olga; Springer, Cecilie; Skov, Louisa J.; Madsen, Andreas N.; Hasholt, Lis; Nørremølle, Anne; Holst, Birgitte.

    In: Journal of Neuroendocrinology, Vol. 31, No. 7 (SI), e12699, 2019.

    Research output: Contribution to journalConference articleResearchpeer-review

  3. 2018
  4. Published

    Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington's disease model. / Reynolds, Regina Hertfelder; Petersen, Maria Hvidberg; Willert, Cecilie Wennemoes; Heinrich, Marie; Nymann, Nynne; Dall, Morten; Treebak, Jonas T.; Björkqvist, Maria; Silahtaroglu, Asli; Hasholt, Lis; Nørremølle, Anne.

    In: Molecular and Cellular Neuroscience, Vol. 88, 2018, p. 118-129.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2017
  6. Published

    The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease. / Hasholt, Lis; Ballegaard, Martin; Bundgaard, Henning; Christiansen, Michael; Law, Ian; Lund, Allan M.; Norremolle, Anne; Rasmussen, Ase Krogh; Ravn, Kirstine; Tumer, Zeynep; Wibrand, Flemming; Feldt-Rasmussen, Ulla.

    In: Scandinavian Journal of Clinical & Laboratory Investigation, Vol. 77, No. 8, 2017, p. 617-621.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2016
  8. Published

    Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3. / Hansen, Susanne Kofoed; Stummann, Tina C.; Madsen, Helena Borland; Hasholt, Lis Frydenreich; Tümer, Zeynep; Nielsen, Jørgen Erik; Rasmussen, Mikkel Aabech; Nielsen, Troels Tolstrup; Daechsel, Justus C. A.; Fog, Karina; Hyttel, Poul.

    In: Stem Cell Research, Vol. 17, No. 2, 09.2016, p. 306-317.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Seasonal difference in brain serotonin transporter binding predicts symptom severity in patients with seasonal affective disorder. / Mc Mahon, Brenda; Andersen, Sofie B.; Madsen, Martin K.; Hjordt, Liv V.; Pedersen, Ida Hageman; Dam, Henrik; Svarer, Claus; da Cunha-Bang, Sofi; Baare, William; Madsen, Jacob; Hasholt, Lis; Holst, Klaus; Frokjaer, Vibe G.; Knudsen, Gitte M.

    In: Brain, Vol. 139, 01.05.2016, p. 1605-1614.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11. / Hansen, Susanne Kofoed; Borland, Helena; Hasholt, Lis Frydenreich; Tümer, Zeynep; Nielsen, Jørgen Erik; Rasmussen, Mikkel A.; Nielsen, Troels Tolstrup; Stummann, Tina C.; Fog, Karina; Hyttel, Poul.

    In: Stem Cell Research, Vol. 16, No. 3, 05.2016, p. 553-556.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11. / Hansen, Susanne Kofoed; Borland, Helena; Hasholt, Lis Frydenreich; Tümer, Zeynep; Nielsen, Jørgen Erik; Rasmussen, Mikkel A.; Nielsen, Troels Tolstrup; Stummann, Tina C.; Fog, Karina; Hyttel, Poul.

    In: Stem Cell Research, Vol. 16, No. 3, 05.2016, p. 589-592.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting. / Nielsen, Signe Marie Borch; Vinther-Jensen, Tua; Nielsen, Jørgen E.; Nørremølle, Anne; Hasholt, Lis; Hjermind, Lena E.; Josefsen, Knud.

    In: Journal of the Neurological Sciences, Vol. 362, 15.03.2016, p. 326-332.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes. / Vinther-Jensen, T; Nielsen, Troels Tolstrup; Budtz-Jørgensen, E; Larsen, I U; Hansen, Mathias Melgaard; Hasholt, L; Hjermind, L E; Nielsen, J E; Nørremølle, A.

    In: Clinical Genetics, Vol. 89, No. 3, 03.2016, p. 320-327.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 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, Mikkel A.; Hjermind, Lena E.; Hasholt, Lis F.; Waldemar, Gunhild; Nielsen, Jorgen E.; Clausen, Christian; Hyttel, Poul; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 01.2016, p. 75-78.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 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, Mikkel A.; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich; Waldemar, Gunhild; Nielsen, Jørgen Erik; Clausen, Christian; Hyttel, Poul; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 2016, p. 70-74.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 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, Mikkel A.; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich; Waldemar, Gunhild; Nielsen, Jørgen Erik; Clausen, Christian; Hyttel, Poul; Holst, Bjørn.

    In: Stem Cell Research, Vol. 16, No. 1, 2016, p. 105-109.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2015
  18. Published

    Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington's Disease Mouse Model R6/2. / Nielsen, Signe Marie Borch; Hasholt, Lis; Nørremølle, Anne; Josefsen, Knud Elnegaard.

    In: PLoS Currents, Vol. 7, 20.04.2015.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  19. 2014
  20. Published

    Three-Week Bright-Light Intervention Has Dose-Related Effects on Threat-Related Corticolimbic Reactivity and Functional Coupling. / Fisher, Patrick M; Madsen, Martin K; Mc Mahon, Brenda; Holst, Klaus K; Andersen, Sofie B; Laursen, Helle R; Hasholt, Lis Frydenreich; Siebner, Hartwig R; Knudsen, Karen Birgitte Moos.

    In: Biological Psychiatry, Vol. 76, No. 4, 15.08.2014, p. 332-339.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy. / Mosbech, Mai-Britt; Olsen, Anne S B; Neess, Ditte; Ben-David, Oshrit; Klitten, Laura L; Larsen, Jan; Sabers, Anne; Vissing, John; Nielsen, Jørgen E; Hasholt, Lis; Klein, Andres D; Tsoory, Michael M; Hjalgrim, Helle; Tommerup, Niels; Futerman, Anthony H; Møller, Rikke S; Færgeman, Nils J.

    In: Annals of Clinical and Translational Neurology, Vol. 1, No. 2, 28.02.2014, p. 88-98.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin. / Ehrnhoefer, Dagmar E; Skotte, Niels H; Ladha, Safia; Nguyen, Yen T N; Qiu, Xiaofan; Deng, Yu; Huynh, Khuong T; Engemann, Sabine; Nielsen, Signe M; Becanovic, Kristina; Leavitt, Blair R; Hasholt, Lis; Hayden, Michael R.

    In: Human Molecular Genetics, Vol. 23, No. 3, 01.02.2014, p. 717-29.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2013
  24. Published

    Localization of A11-reactive oligomeric species in prion diseases. / Aidt, Frederik H; Hasholt, Lis F; Christiansen, Michael; Laursen, Henning.

    In: Histopathology, Vol. 62, No. 7, 06.2013, p. 994-1001.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Dysfunctional mitochondrial respiration in the striatum of the Huntington's disease transgenic R6/2 mouse model. / Aidt, Frederik Heurlin; Nielsen, Signe Marie Borch; Kanters, Jørgen; Pesta, Dominik; Nielsen, Troels Tolstrup; Nørremølle, Anne; Hasholt, Lis; Christiansen, Michael; Hagen, Christian Munch.

    In: PLoS Currents, Vol. 5, 2013.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2012
  27. Published

    ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia. / Nielsen, Troels Tolstrup; Svenstrup, Kirsten; Budtz-Jørgensen, Esben; Eiberg, Hans; Hasholt, Lis; Nielsen, Jørgen E.

    In: Journal of the Neurological Sciences, Vol. 321, No. 1-2, 10.2012, p. 100-2.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference. / Nielsen, Troels Tolstrup; Mizielinska, Sarah; Hasholt, Lis; Isaacs, Adrian M; Nielsen, Jørgen E; the FReJA Consortium.

    In: Journal of Gene Medicine, Vol. 14, No. 8, 08.2012, p. 521-529.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Three weeks of daily exposure to bright light does not alter striatal serotonin transporter binding in healthy Scandinavians. / Mc Mahon, Brenda; Andersen, Anne Sofie; Feng, Ling; Madsen, Martin Korsbak; Lehel, Szabolcs; Herth, Matthias Manfred; Iversen, Pernille; Hasholt, Lis; Knudsen, Gitte Moos.

    In: Journal of Cerebral Blood Flow and Metabolism, Vol. 32, 08.2012, p. S79-S80.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. 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; 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).

    In: Neurology, Vol. 78, No. 10, 03.2012, p. 690-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. 2011
  32. Published

    Discrepancies in reporting the CAG repeat lengths for Huntington's disease. / Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; Ramos-Arroyo, Maria; Biunno, Ida; Bauer, Peter; Kline, Margaret; Landwehrmeyer, G Bernhard; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich; Nørremølle, Anne; Nielsen, Jørgen Erik; European Huntington’s Disease Network.

    In: European Journal of Human Genetics, Vol. 20, No. 1, 08.2011, p. 20-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders. / Bech, Sara; Nørremølle, Anne; Winge, Kristian; Hasholt, Lis; Tommerup, Niels; Svenstrup, Kirsten; Nielsen, Jørgen E; Hjermind, Lena E.

    In: Parkinsonism & Related Disorders, Vol. 17, No. 5, 01.06.2011, p. 398-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. 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, Robert; Nazarenko, Irina; Ballegaard, Martin; Hasholt, Lis; Rasmussen, Ase K; Christensen, Erik Ilsø; Sorensen, Soren S; Wibrand, Flemming; Desnick, Robert J.

    In: Molecular Genetics and Metabolism, Vol. 104, No. 3, 2011, p. 314-8.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Observing Huntington's disease : the European Huntington's Disease Network's REGISTRY. / Orth, Michael; Handley, O J; Schwenke, C; Dunnett, S; Wild, E J; Tabrizi, S J; Landwehrmeyer, G B; Hasholt, Lis Frydenreich; Hjermind, Lena Elisabeth; Nørremølle, Anne; Nielsen, Jørgen Erik; European Huntington's Disease Network.

    In: The Egyptian Journal of Neurology, Psychiatry, and Neurosurgery, Vol. 82, No. 12, 2011, p. 1409-12.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. 2010
  37. Published

    Reduced gluconeogenesis and lactate clearance in Huntington's disease. / Josefsen, Knud; Nielsen, Signe M B; Campos, André; Seifert, Thomas; Hasholt, Lis; Nielsen, Jørgen E; Nørremølle, Anne; Skotte, Niels H; Secher, Niels H; Quistorff, Bjørn.

    In: Neurobiology of Disease, Vol. 40, No. 3, 01.12.2010, p. 656-62.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women. / Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte; Jensen, Morten; Hoffman-Bang, Jakob; Andersen, Paal Skytt; Hasholt, Lis; Nørremølle, Anne; Feldt-Rasmussen, Ulla; Køber, Lars; Bundgaard, Henning; Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte; Jensen, Morten; Hofman-Bang, Jakob; Andersen, Paal Skytt; Hasholt, Lis Frydenreich; Nørremølle, Anne; Feldt-Rasmussen, Ulla; Køber, Lars; Bundgaard, Henning.

    In: European Journal of Heart Failure, Vol. 12, No. 6, 01.06.2010, p. 535-40.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. / Bech, Sara; Petersen, Thor; Nørremølle, Anne; Gjedde, Albert; Ehlers, Lise; Eiberg, Hans; Hjermind, Lena E; Hasholt, Lis; Lundorf, Erik; Nielsen, Jørgen E.

    In: Parkinsonism & Related Disorders, Vol. 16, No. 1, 2010, p. 12-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. 2009
  41. Published

    Autonomic skin responses in females with Fabry disease. / Møller, Anette Torvin; Bach, Flemming W.; Feldt-Rasmussen, Ulla; Rasmussen, Ase K; Hasholt, Lis; Sommer, Claudia; Kølvraa, Steen; Jensen, Troels Staehelin.

    In: Journal of the Peripheral Nervous System Online, Vol. 14, No. 3, 01.09.2009, p. 159-64.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    4p16.3 haplotype modifying age at onset of Huntington disease. / Nørremølle, A; Budtz-Jørgensen, E; Fenger, K; Nielsen, Jørgen Erik; Sørensen, S A; Hasholt, L.

    In: Clinical Genetics, Vol. 75, No. 3, 2009, p. 244-50.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Functional and structural nerve fiber findings in heterozygote patients with Fabry disease. / Torvin, Moller A.; Winther, Bach F.; Feldt-Rasmussen, U.; Rasmussen, A.; Hasholt, L.; Lan, H.; Sommer, C.; Kolvraa, S.; Ballegaard, M.; Staehelin, Jensen T.

    In: Pain, Vol. 145, No. 1-2, 2009, p. 237-245.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Huntington's disease does not appear to increase the risk of diabetes mellitus. / Boesgaard, T W; Nielsen, Troels Tolstrup; Josefsen, Knud Elnegaard; Hansen, T; Jørgensen, T; Pedersen, O; Nørremølle, A; Nielsen, Jørgen Erik; Hasholt, L.

    In: Journal of Neuroendocrinology, Vol. 21, No. 9, 2009, p. 770-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Neuron-specific RNA interference using lentiviral vectors. / Nielsen, Troels Tolstrup; Marion, Ingrid van; Hasholt, Lis; Lundberg, Cecilia.

    In: Journal of Gene Medicine, Vol. 11, No. 7, 2009, p. 559-69.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. 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; van Roon-Mom, W M C; van Ommen, G J B; Stijnen, T; Roos, R A C; Hasholt, Lis Frydenreich.

    In: Neurology, Vol. 73, No. 16, 2009, p. 1280-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. / Svenstrup, Kirsten; Bross, Peter; Koefoed, Pernille; Hjermind, Lena E; Eiberg, Hans; Born, A Peter; Vissing, John; Gyllenborg, Jesper; Nørremølle, Anne; Hasholt, Lis; Nielsen, Jørgen E; Svenstrup, Kirsten; Bross, Peter; Koefoed, Pernille; Hjermind, Lena E; Eiberg, Hans; Born, A Peter; Vissing, John; Gyllenborg, Jesper; Nørremølle, Anne; Hasholt, Lis; Nielsen, Jørgen E.

    In: Journal of the Neurological Sciences, Vol. 284, No. 1-2, 2009, p. 90-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. 2008
  49. Published

    A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment. / Lindquist, Susanne Granhøj; Hasholt, L.; Bahl, J.M.C.; Heegaard, N.H.H.; Andersen, B.B.; Nørremølle, Anne; Stokholm, J.; Schwartz, M.; Batbayli, M.; Laursen, Henning; Pardossi-Piquard, R.; Chen, F.; George-Hyslop, P. St; Waldemar, Gunhild; Nielsen, J.E.

    In: European Journal of Neurology, Vol. 15, No. 10, 2008, p. 1135-1139.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. 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, L.; Tommerup, Niels; Tumer, Z.; Larsen, Lars Allan.

    In: DNA and Cell Biology, Vol. 27, No. 5, 2008, p. 251-U16.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. 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, Svend Asger; Naver, B.; Hasholt, L.

    In: Journal of Neuroendocrinology, Vol. 20, No. 2, 2008, p. 165-172.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. 2007
  53. Published

    Drosophila deoxyribonucleoside kinase mutants with enhanced ability to phosphorylate purine analogs. / Knecht, W.; Rozpedowska, E.; Breton, C. Le; Willer, Martin; Gojkovic, Z.; Sandrini, Michael Paolo Bastner; Jørgensen, T.; Hasholt, Lis Frydenreich; Munch-Petersen, B.; Piskur, J.

    In: Gene Therapy, Vol. 14, No. 17, 2007, p. 1278-1286.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. 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 Friis.

    In: Genetics In Medicine, Vol. 9, No. 12, 2007, p. 812-818.

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. 2006
  56. 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.

    In: Journal of the Neurological Sciences, Vol. 241, No. 1-2, 2006, p. 95-98.

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. 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.

    In: Journal of the Peripheral Nervous System, Vol. 11, No. 2, 2006, p. 119-125.

    Research output: Contribution to journalJournal articleResearchpeer-review

  58. 2004
  59. Published

    Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. / Nielsen, Jørgen Erik; Johnson, B; Koefoed, Pernille; 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, O.B.; Hasholt, Lis Frydenreich; Sørensen, Sven Asger.

    In: European Journal of Neurology, Vol. 11, No. 12, 2004, p. 817-824.

    Research output: Contribution to journalJournal articleResearchpeer-review

  60. Published

    Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins. / Nørremølle, Anne; Hasholt, Lis; Petersen, C.B.; Eiberg, Hans Rudolf Lytchoff; Hasselbalch, S.G.; Gideon, P.; Nielsen, J.E.; Sørensen, Sven Asger.

    In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, No. Vol. 130, 2004, p. 154-159.

    Research output: Contribution to journalJournal articleResearchpeer-review

  61. Published

    Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. / Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne; Jensen, Lisa Neerup; Nørremølle, Anne; Hasholt, Lis.

    In: Prenatal Diagnosis, Vol. 24, No. 5, 2004, p. 363-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  62. 2003
  63. Published

    Antisense downregulation of mutant huntingtin in a cell model. / Hasholt, Lis Frydenreich; Abell, K.; Nørremølle, Anne; Nellemann, C.; Fenger, Kirsten; Sørensen, Sven Asger.

    In: Journal of Gene Medicine, No. Vol. 5, 2003, p. 528-538.

    Research output: Contribution to journalJournal articleResearchpeer-review

  64. 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; Sørensen, Sven Asger.

    In: Journal of Neuroscience Research, Vol. 71, No. 1, 2003, p. 132-7.

    Research output: Contribution to journalJournal articleResearchpeer-review

  65. Published

    Molecular And Behavioral Analysis of the R6/1 Huntington's Disease Transgenic Mouse. / Naver, Bjarke; Stub, C.; Møller, M.; Fenger, Kirsten; Hansen, A.K.; Hasholt, Lis; Sørensen, Sven Asger.

    In: Neuroscience, No. Vol. 122, 2003, p. 1049-1057.

    Research output: Contribution to journalJournal articleResearchpeer-review

  66. 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.

    In: Neuroscience, No. Vol. 122, 2003, p. 1049-1057.

    Research output: Contribution to journalJournal articleResearchpeer-review

  67. 2002
  68. Published

    Fabry Disease - A Metabolic Disorder with a Challenge for Endocrinologists ? / Feldt-Rasmussen, U.; Rasmussen, Å. Krogh; Mersebach, H.; Rosenberg, Kirsten Marie; Hasholt, Lis Frydenreich; Sørensen, Sven Asger.

    In: Hormone Reseach, No. vol. 58, 2002, p. 259-265.

    Research output: Contribution to journalJournal articleResearchpeer-review

  69. Published

    Fabry disease: a new challenge in endocrinology and metabolism? / Feldt-Rasmussen, U.; Rasmussen, Å. Krogh; Mersebach, H.; Rosenberg, K.M.; Hasholt, Lis; Sørensen, Sven Asger.

    In: European Journal of Endocrinology, No. vol. 146, 2002, p. 741-742.

    Research output: Contribution to journalJournal articleResearchpeer-review

  70. 2001
  71. Published

    Fabrys sygdom - specifik terapi nu mulig. / Rasmussen, A.K.; Mersebach, H.; Hasholt, Lis Frydenreich; Rosenberg, K.M.; Sørensen, Sven Asger; Feldt-Rasmussen, Ulla.

    In: Ugeskrift for læger, No. Vol.163, 2001, p. 5382.

    Research output: Contribution to journalJournal articleResearchpeer-review

  72. 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, Sven Asger; Hasholt, Lis Frydenreich.

    In: Journal of Inherited Metabolic Disease, Vol. 24, No. Suppl. 2., 2001, p. 129.

    Research output: Contribution to journalJournal articleResearchpeer-review

  73. 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.

    In: Journal of Inherited Metabolic Disease, Vol. 24, No. Suppl.2, 2001, p. 151.

    Research output: Contribution to journalJournal articleResearchpeer-review

  74. Published

    Platelet serotonin transporters and the transporter gene in control subjects, unipolar patients and bipolar patients. / Mellerup, Erling Thyge; Bennike, Bente Guldhammer; Bolwig, Tom G.; Dam, Henrik O.; Hasholt, Lis; Jørgensen, Martin Balslev; Plenge, Per Krener; Sørensen, Sven Asger.

    In: Acta Psychiatrica Scandinavica, No. 103, 2001, p. 229-233.

    Research output: Contribution to journalJournal articleResearchpeer-review

  75. 2000
  76. Published

    Five new mutations in fourteen families with Fabry disease. / Rosenberg, Kirsten Marie; Schiffmann, R.; Kaneski, C.; Brady, R.O.; Sørensen, Sven Asger; Hasholt, Lis.

    In: Human Mutation, No. 15, 2000, p. 207-208.

    Research output: Contribution to journalJournal articleResearchpeer-review

  77. 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, Lars Allan; Amstrong, Judith S.M.; Grønskov, Karen; Hjalgrim, Helle; Macpherson, James N.; Brøndum-Nielsen, Karen; Hasholt, Lis; Nørgaard-Pedersen, Bent; Vuust, Jens.

    In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, No. 93, 2000, p. 99-106.

    Research output: Contribution to journalJournal articleResearchpeer-review

  78. Published

    Inhibition of Huntingtin synthesis by antisense oligodeoxynucleotides. / Nellemann, Christine Lydia; Abell, Kathrine; Nørremølle, Anne; Løkkegaard, Thomas; Naver, Bjarke; Röpke, Carsten; Rygaard, Jørgen; Sørensen, Sven Asger; Hasholt, Lis.

    In: Molecular and Cellular Neuroscience, No. 16, 2000, p. 313-323.

    Research output: Contribution to journalJournal articleResearchpeer-review

  79. 1999
  80. 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, Lars Allan; Armstrong, Judith S.M.; Grønskov, Karen; Hjalgrim, Helle; Brøndum-Nielsen, Karen; Hasholt, Lis; Nørgaard-Pedersen, Bent; Vuust, Jens.

    In: European Journal of Human Genetics, No. 7, 1999, p. 771-777.

    Research output: Contribution to journalJournal articleResearchpeer-review

  81. 1998
  82. Published

    Autosomal dominant pure spastic paraplegia: A clinical, paraclinical and genetic study. / Nielsen, Jørgen Erik; Krabbe, K.; Jennum, P.; Koefoed, Pernille; Jensen, Lisa Neerup; Fenger, Kirsten; Eiberg, Hans Rudolf Lytchoff; Hasholt, Lis; Werdelin, L; Sørensen, Sven Asger.

    In: Journal of Neurology, Neurosurgery and Psychiatry, No. 64, 1998, p. 61-66.

    Research output: Contribution to journalJournal articleResearchpeer-review

  83. Published

    Machado-Joseph disease in three Scandinavian families. / Løkkegaard, Thomas; Nielsen, J.E.; Hasholt, Lis; Fenger, Kirsten; Werdelin, L.; Tranebjærg, Lisbeth; Lauritzen, Martin; Colding-Jørgensen, Eskild; Grønbech-Jensen, M.; Henriksen, O.A.; Sørensen, Sven Asger.

    In: Journal of Neurological Sciences, Vol. 156, No. 2, 1998, p. 152-157.

    Research output: Contribution to journalJournal articleResearchpeer-review

  84. Published

    Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1. / Koefoed, Pernille; Hasholt, Lis; Fenger, Kirsten; Nielsen, Jørgen Erik; Eiberg, Hans Rudolf Lytchoff; Buschard, Karsten; Sørensen, Sven Asger.

    In: Human Genetics, No. 103, 1998, p. 564-569.

    Research output: Contribution to journalJournal articleResearchpeer-review

  85. 1997
  86. 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, Karen; Nørgaard-Pedersen, Bent; Brøndum-Nielsen, Karen; Hasholt, Lis; Vuunst, Jens.

    In: Human Genetics, No. 100, 1997, p. 564-568.

    Research output: Contribution to journalJournal articleResearchpeer-review

  87. Published

    The molecular diagnosis of spinocerebellar ataxia type 1 in patients with ataxia. / Koefoed, Pernille; Nielsen, Jørgen E.; Hasholt, Lis; Jensen, Peter K.A.; Fenger, Kirsten; Sørensen, Sven Asger.

    In: European Journal of Neurology, No. 4, 1997, p. 586-592.

    Research output: Contribution to journalJournal articleResearchpeer-review

  88. 1996
  89. Published

    Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family. / Nielsen, Jørgen Erik; Sørensen, Sven Asger; Hasholt, Lis Frydenreich; Nørremølle, Anne.

    In: Movement Disorders, Vol. 11, No. 5, 1996, p. 533-541.

    Research output: Contribution to journalJournal articleResearchpeer-review

  90. Published

    Electrophysiological Findings in a Danish Family with Machado-Joseph Disease. / Colding-Jørgensen, Eskild; Sørensen, Sven Asger; Hasholt, Lis Frydenreich; Lauritzen, Martin.

    In: Muscle & Nerve, No. 19, 1996, p. 743-750.

    Research output: Contribution to journalJournal articleResearch

  91. 1995
  92. 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.

    In: Human Genetics, No. 95, 1995, p. 313-318.

    Research output: Contribution to journalJournal articleResearchpeer-review

  93. 1993
  94. Published

    Klinisk genetik og forebyggelse. / Hasholt, Lis Frydenreich.

    In: Maanedsskrift for Praktisk Laegegerning, No. 9, 1993, p. 771-774.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 12125