Lis Frydenreich Hasholt

Research output

Research output per year 1993 2009 2012 2016 2019

• 67 Journal article
• 1 Conference abstract in journal
• 1 Conference article

Research output per year

Research output per year

Search results

• 2019

  Ghrelin-mediated improvements in the metabolic phenotype in the R6/2 mouse model of Huntington's disease

  Rudenko, O., Springer, C., Skov, L. J., Madsen, A. N., Hasholt, L., Nørremølle, A. & Holst, B., 2019, In: Journal of Neuroendocrinology. 31, 7 (SI), 14 p., e12699.

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

  • Ghrelin 100%
  • Huntington Disease 93%
  • Phenotype 50%
  • Energy Metabolism 38%
  • Ghrelin Receptor 29%
  3 Citations (Scopus)
• 2018

  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, J. T., Björkqvist, M., Silahtaroglu, A., Hasholt, L. & Nørremølle, A., Apr 2018, In: Molecular and Cellular Neuroscience. 88, p. 118-129

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

  • Sirtuin 1 100%
  • Huntington Disease 83%
  • Cellular Senescence 16%
  • Brain-Derived Neurotrophic Factor 15%
  • Acetylation 15%
  22 Citations (Scopus)
• 2017

  The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease

  Hasholt, L., Ballegaard, M., Bundgaard, H., Christiansen, M., Law, I., Lund, A. M., Norremolle, A., Rasmussen, A. K., Ravn, K., Tumer, Z., Wibrand, F. & Feldt-Rasmussen, U., 17 Nov 2017, In: Scandinavian Journal of Clinical & Laboratory Investigation. 77, 8, p. 617-621

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

  • Fabry Disease 100%
  • Mutation 62%
  • Phenotype 33%
  • Genes 29%
  • alpha-Galactosidase 26%
  8 Citations (Scopus)
• 2016

  Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

  Hansen, S. K., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., 1 May 2016, In: Stem Cell Research. 16, 3, p. 553-556 4 p.

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

  • Machado-Joseph Disease 100%
  • Induced Pluripotent Stem Cells 74%
  • Cell Line 39%
  • Plasmids 35%
  • Germ Layers 28%
  4 Citations (Scopus)

  100 Downloads (Pure)

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

  Hansen, S. K., Borland, H., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., 1 May 2016, In: Stem Cell Research. 16, 3, p. 589-592 4 p.

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

  • Machado-Joseph Disease 100%
  • Induced Pluripotent Stem Cells 74%
  • Cell Line 39%
  • Plasmids 35%
  • Germ Layers 28%
  7 Citations (Scopus)

  141 Downloads (Pure)

• Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3

  Hansen, S. K., Stummann, T. C., Madsen, H. B., Hasholt, L. F., Tümer, Z., Nielsen, J. E., Rasmussen, M. A., Nielsen, T. T., Daechsel, J. C. A., Fog, K. & Hyttel, P., 1 Sept 2016, In: Stem Cell Research. 17, 2, p. 306-317 12 p.

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

  • Machado-Joseph Disease 100%
  • Induced Pluripotent Stem Cells 74%
  • Neurons 40%
  • Glutamic Acid 19%
  • Ataxin-3 18%
  15 Citations (Scopus)

  109 Downloads (Pure)

• 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, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 105-109 5 p.

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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Mutation 44%
  • Germ Layers 33%
  3 Citations (Scopus)

  101 Downloads (Pure)

• 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, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 70-74 5 p.

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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Mutation 44%
  • Germ Layers 33%
  6 Citations (Scopus)

  79 Downloads (Pure)

• 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, L. F., Waldemar, G., Nielsen, J. E., Clausen, C., Hyttel, P. & Holst, B., 1 Jan 2016, In: Stem Cell Research. 16, 1, p. 75-78 4 p.

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

  • Frontotemporal Dementia 100%
  • Microtubule-Associated Proteins 95%
  • Induced Pluripotent Stem Cells 90%
  • Mutation 44%
  • Germ Layers 33%
  4 Citations (Scopus)

  78 Downloads (Pure)

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

  Nielsen, S. M. B., Vinther-Jensen, T., Nielsen, J. E., Nørremølle, A., Hasholt, L., 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

  • Huntington Disease 100%
  • Liver 46%
  • Genes 30%
  • Liver Function Tests 23%
  • Transferases 7%
  6 Citations (Scopus)

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

  Vinther-Jensen, T., Nielsen, T. T., Budtz-Jørgensen, E., Larsen, I. U., Hansen, M. M., Hasholt, L., Hjermind, L. E., Nielsen, J. E. & Nørremølle, A., 1 Mar 2016, In: Clinical Genetics. 89, 3, p. 320-327 8 p.

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

  • Neurobehavioral Manifestations 100%
  • Huntington Disease 92%
  • Catecholamines 77%
  • Psychiatry 61%
  • Enzymes 45%
  8 Citations (Scopus)

• 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, L., 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

  • Seasonal Affective Disorder 100%
  • Serotonin Plasma Membrane Transport Proteins 82%
  • Brain 32%
  • Depression 11%
  • 3-amino-4-(2-dimethylaminomethylphenylsulfanyl)benzonitrile 10%
  30 Citations (Scopus)
• 2015

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

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

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

  • Gluconeogenesis 100%
  • Huntington Disease 91%
  • Lactic Acid 73%
  • Huntingtin Protein 60%
  • Wild Animals 51%
  1 Citation (Scopus)
• 2014

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

  Ehrnhoefer, D. E., Skotte, N. H., Ladha, S., Nguyen, Y. T. N., Qiu, X., Deng, Y., Huynh, K. T., Engemann, S., Nielsen, S. M., Becanovic, K., Leavitt, B. R., Hasholt, L. & 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

  • Caspase 6 100%
  • Huntington Disease 54%
  • Muscles 37%
  • Lamin Type A 19%
  • Central Nervous System 15%
  34 Citations (Scopus)

• Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

  Mosbech, M-B., Olsen, A. S. B., Neess, D., Ben-David, O., Klitten, L. L., Larsen, J., Sabers, A., Vissing, J., Nielsen, J. E., Hasholt, L., Klein, A. D., Tsoory, M. M., Hjalgrim, H., Tommerup, N., 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

  • dihydroceramide desaturase 100%
  • Progressive Myoclonic Epilepsy 95%
  • Sphingolipids 77%
  • Ceramides 44%
  • Fatty Acids 21%
  33 Citations (Scopus)

• 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, L. F., Siebner, H. R. & Knudsen, K. B. M., 15 Aug 2014, In: Biological Psychiatry. 76, 4, p. 332-339 8 p.

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

  • Light 100%
  • Amygdala 62%
  • Seasonal Affective Disorder 47%
  • Genotype 33%
  • Serotonin 26%
  24 Citations (Scopus)
• 2013

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

  Aidt, F. H., Nielsen, S. M. B., Kanters, J., Pesta, D., Nielsen, T. T., Nørremølle, A., Hasholt, L., Christiansen, M. & Hagen, C. M., 11 Apr 2013, In: PLoS Currents. 5

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

  • Huntington Disease 100%
  • Respiration 74%
  • Enzyme Assays 68%
  • Electron Transport 65%
  • Autopsy 25%
  28 Citations (Scopus)

• Localization of A11-reactive oligomeric species in prion diseases

  Aidt, F. H., Hasholt, L. F., 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

  • Sporadic Creutzfeldt-Jakob Disease 100%
  • Prion Diseases 80%
  • Prion Proteins 53%
  • Kuru 35%
  • Staining and Labeling 28%
  7 Citations (Scopus)
• 2012

  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-Jørgensen, E., Eiberg, H., Hasholt, L. & Nielsen, J. E., 15 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

  • Hereditary Spastic Paraplegia 100%
  • Motor Neuron Disease 74%
  • Age of Onset 21%
  • polyglutamine 19%
  • Ataxin-2 13%
  7 Citations (Scopus)

• 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 othersFrontali, 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, L. F., Nørremølle, A., Nielsen, J. E. & PREDICT-HD study of the Huntington Study Group (HSG), 6 Mar 2012, In: Neurology. 78, 10, p. 690-5 6 p.

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

  • Huntington Disease 100%
  • Age of Onset 84%
  • Alleles 65%
  • Linear Models 11%
  • Trinucleotide Repeat Expansion 11%
  195 Citations (Scopus)

• 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, L. F., Nørremølle, A., Nielsen, J. E. & European Huntington’s Disease Network, 2012, In: European Journal of Human Genetics. 20, 1, p. 20-6 7 p.

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

  • Huntington Disease 100%
  • Alleles 52%
  • Practice Guidelines 33%
  • Medical Genetics 24%
  • Diagnostic Errors 17%
  12 Citations (Scopus)

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

  Nielsen, T. T., Mizielinska, S., Hasholt, L., Isaacs, A. M., Nielsen, J. E. & the FReJA Consortium, Aug 2012, In: Journal of Gene Medicine. 14, 8, p. 521-529 9 p.

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

  • Frontotemporal Dementia 100%
  • RNA Interference 76%
  • Mutation 67%
  • Pathology 50%
  • Endosomal Sorting Complexes Required for Transport 48%
  12 Citations (Scopus)

• 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, M. M., Iversen, P., Hasholt, L. & 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
• 2011

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

  Feldt-Rasmussen, U., Dobrovolny, R., Nazarenko, I., Ballegaard, M., Hasholt, L., Rasmussen, A. K., Christensen, E. I., Sorensen, S. S., Wibrand, F. & Desnick, R. J., Nov 2011, In: Molecular Genetics and Metabolism. 104, 3, p. 314-8 5 p.

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

  • Galactosidases 100%
  • Fabry Disease 89%
  • Mutation 56%
  • Gene Dosage 52%
  • Heterozygote 47%
  8 Citations (Scopus)

• 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, L. F., Hjermind, L. E., Nørremølle, A., Nielsen, J. E. & European Huntington's Disease Network, Dec 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

  68 Citations (Scopus)

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

  Bech, S., Nørremølle, A., Winge, K., Hasholt, L., Tommerup, N., Svenstrup, K., Nielsen, J. E. & 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

  4 Citations (Scopus)
• 2010

  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 othersKøber, L. & 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

  • Fabry Disease 100%
  • Hypertrophic Cardiomyopathy 84%
  • Genetic Testing 76%
  • Sarcomeres 47%
  • Galactosidases 44%
  56 Citations (Scopus)

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

  Bech, S., Petersen, T., Nørremølle, A., Gjedde, A., Ehlers, L., Eiberg, H., Hjermind, L. E., Hasholt, L., Lundorf, E. & Nielsen, J. E., Jan 2010, In: Parkinsonism & Related Disorders. 16, 1, p. 12-5 3 p.

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

  • Huntington Disease-Like Syndrome 100%
  • TATA-Box Binding Protein 71%
  • Huntington Disease 55%
  • Ataxia 52%
  • Mutation 27%
  11 Citations (Scopus)

• Reduced gluconeogenesis and lactate clearance in Huntington's disease

  Josefsen, K., Nielsen, S. M. B., Campos, A., Seifert, T., Hasholt, L., Nielsen, J. E., Nørremølle, A., Skotte, N. H., Secher, N. 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

  • Gluconeogenesis 100%
  • Huntington Disease 91%
  • Lactic Acid 73%
  • Blood Glucose 22%
  • Phosphoenolpyruvate 18%
  26 Citations (Scopus)
• 2009

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

  Nørremølle, A., Budtz-Jørgensen, E., Fenger, K., Nielsen, J. E., Sørensen, S. A. & Hasholt, L., 2009, In: Clinical Genetics. 75, 3, p. 244-50 6 p.

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

  • Huntington Disease 100%
  • Age of Onset 84%
  • Haplotypes 84%
  • Siblings 16%
  • Genes 14%
  16 Citations (Scopus)

• Autonomic skin responses in females with Fabry disease

  Møller, A. T., Bach, F. W., Feldt-Rasmussen, U., Rasmussen, A. K., Hasholt, L., Sommer, C., Kølvraa, S. & Jensen, T. S., 1 Sept 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

  • Fabry Disease 100%
  • Cold-Shock Response 49%
  • Sweat 43%
  • Capsaicin 42%
  • Skin 40%
  17 Citations (Scopus)

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

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

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

  45 Citations (Scopus)

• 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, A., Nielsen, J. E. & Hasholt, L., 2009, In: Journal of Neuroendocrinology. 21, 9, p. 770-6 6 p.

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

  • Huntington Disease 100%
  • Diabetes Mellitus 71%
  • polyglutamine 53%
  • Insulin 27%
  • Glucose 20%
  32 Citations (Scopus)

• Neuron-specific RNA interference using lentiviral vectors

  Nielsen, T. T., Marion, I. V., Hasholt, L. & 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

  • Small Interfering RNA 100%
  • RNA Interference 69%
  • MicroRNAs 45%
  • Neurons 44%
  • Cytomegalovirus 35%
  30 Citations (Scopus)

• 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, L. F., 2009, In: Neurology. 73, 16, p. 1280-5 5 p.

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

  • Huntington Disease 100%
  • Basal Ganglia 30%
  • Age of Onset 28%
  • Disease Progression 23%
  • polyglutamine 19%
  65 Citations (Scopus)

• 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 othersHasholt, 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

  • Hereditary Spastic Paraplegia 100%
  • Exons 16%
  • Genes 11%
  • Homozygote 10%
  • Neurodegenerative Diseases 8%
  15 Citations (Scopus)
• 2008

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

  Lindquist, S. G., Hasholt, L., Bahl, J. M. C., Heegaard, N. H. H., Andersen, B. B., Nørremølle, A., Stokholm, J., Schwartz, M., Batbayli, M., Laursen, H., Pardossi-Piquard, R., Chen, F., George-Hyslop, P. S., Waldemar, G. & 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

  14 Citations (Scopus)

• 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, N., Tumer, Z. & Larsen, L. A., 2008, In: DNA and Cell Biology. 27, 5, p. 251-U16

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

  11 Citations (Scopus)

• 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, A., Sørensen, S. A., Naver, B. & Hasholt, L., 2008, In: Journal of Neuroendocrinology. 20, 2, p. 165-172 7 p.

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

  35 Citations (Scopus)
• 2007

  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, L. F., 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

  14 Citations (Scopus)

• 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, L. F., Sørensen, S. A., Sørensen, S. S. & Feldt-Rasmussen, U. F., 2007, In: Genetics In Medicine. 9, 12, p. 812-818 6 p.

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

  35 Citations (Scopus)
• 2006

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

  Lindquist, S. G., Nørremølle, A., Hjermind, L. E., Hasholt, L. F. & 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

  5 Citations (Scopus)

• 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, L. F., 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

  30 Citations (Scopus)
• 2004

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

  Nielsen, J. E., Johnson, B., Koefoed, P., Scheuer, K. H., Grønbech-Jensen, M., Law, I., Krabbe, K., Nørremølle, A., Eiberg, H. R. L., Søndergård, H., Dam, M., Rehfeld, J. F., Krarup, C., Paulson, O. B., Hasholt, L. F. & 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

  • Hereditary Spastic Paraplegia 100%
  • Cerebellar Ataxia 84%
  • Phenotype 40%
  • Spastin 39%
  • Mutation 37%
  63 Citations (Scopus)

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

  Nørremølle, A., Hasholt, L., Petersen, C. B., Eiberg, H. R. L., 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

  16 Citations (Scopus)

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

  Nielsen, J. E., Koefoed, P., Kjaergaard, S., Jensen, L. N., Nørremølle, A. & Hasholt, L., 2004, In: Prenatal Diagnosis. 24, 5, p. 363-6 3 p.

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

  • Hereditary Spastic Paraplegia 100%
  • Prenatal Diagnosis 68%
  • Fathers 44%
  • Spastin 39%
  • Mutation 37%
  11 Citations (Scopus)
• 2003

  Antisense downregulation of mutant huntingtin in a cell model

  Hasholt, L. F., Abell, K., Nørremølle, A., 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

  19 Citations (Scopus)

• 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, A., Grunnet, M., Hasholt, L. & 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

  • polyglutamine 100%
  • Ion Channels 75%
  • Patch-Clamp Techniques 41%
  • CHO Cells 22%
  • Huntington Disease 21%
  4 Citations (Scopus)

• 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, L. & Sørensen, S. A., 2003, In: Neuroscience. Vol. 122, p. 1049-1057

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

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

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

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

  97 Citations (Scopus)