Lis Frydenreich Hasholt

Research output

Research output per year 1993 2009 2016 2023

• 1763 Citations
• 73 Journal article
• 1 Conference abstract in journal
• 1 Conference article

Research output per year

Research output per year

Search results

• 2023

  Upregulated Chaperone-Mediated Autophagy May Perform a Key Role in Reduced Cancer Incidence in Huntington’s Disease

  Hasholt, L. F., 2023, In: Journal of Huntington's disease. 12, 4, p. 371-376 6 p.

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

  Open Access

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  1 Downloads (Pure)
• 2022

  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, V., Kistorp, C. & Feldt-Rasmussen, U., 2022, In: PLoS ONE. 17, 11, e0277767.

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

  Open Access

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  21 Downloads (Pure)
• 2021

  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, L. F., Nielsen, J. E., 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

  Open Access

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  12 Downloads (Pure)
• 2020

  Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

  Bech, S., Løkkegaard, A., Nielsen, T. T., Nørremølle, A., Grønborg, S., Hasholt, L., Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, N., Mang, Y., Bak, M., Nielsen, J. E., Eiberg, H. & Hjermind, L. E., 2020, In: Movement Disorders. 35, 12, p. 2343-2347

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

  Open Access

  File
  1 Citation (Scopus)

  11 Downloads (Pure)
• 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
  12 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., 2018, In: Molecular and Cellular Neuroscience. 88, p. 118-129

  Research output: Contribution to journal › Journal article › Research › peer-review
  40 Citations (Scopus)

• The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease in 2 Danish families

  Feldt-Rasmussen, U., Hasholt, L., Ballegaard, M., Christiansen, M., Law, I., Lund, A., Noerremoelle, A., Ravn, K., Rasmussen, A. K., Tuemer, Z., Bundgaard, H. & 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
• 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., Krogh Rasmussen, A., Ravn, K., Tumer, Z., Wibrand, F. & Feldt-Rasmussen, U., 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
  9 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., May 2016, In: Stem Cell Research. 16, 3, p. 553-556 4 p.

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

  Open Access

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  4 Citations (Scopus)

  367 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., May 2016, In: Stem Cell Research. 16, 3, p. 589-592 4 p.

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

  Open Access

  File
  8 Citations (Scopus)

  327 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., Sep 2016, In: Stem Cell Research. 17, 2, p. 306-317 12 p.

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

  Open Access

  File
  25 Citations (Scopus)

  323 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., 2016, In: Stem Cell Research. 16, 1, p. 105-109 5 p.

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

  Open Access

  File
  4 Citations (Scopus)

  270 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., 2016, In: Stem Cell Research. 16, 1, p. 70-74 5 p.

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

  Open Access

  File
  7 Citations (Scopus)

  203 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., Jan 2016, In: Stem Cell Research. 16, 1, p. 75-78 4 p.

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

  Open Access

  File
  4 Citations (Scopus)

  238 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
  13 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., Mar 2016, In: Clinical Genetics. 89, 3, p. 320-327 8 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  12 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
  60 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

  Open Access
  3 Citations (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
  44 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
  34 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
  36 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., 2013, In: PLoS Currents. 5

  Research output: Contribution to journal › Journal article › Research › peer-review
  36 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
  11 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., 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
  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 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, L. F., Nørremølle, A., Nielsen, J. E. & PREDICT-HD study of the Huntington Study Group (HSG), Mar 2012, In: Neurology. 78, 10, p. 690-5 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  265 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
  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., 2011, In: Molecular Genetics and Metabolism. 104, 3, p. 314-8 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  10 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, 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
  14 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, 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
  86 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 others, Køber, 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
  72 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., 2010, In: Parkinsonism & Related Disorders. 16, 1, p. 12-5 3 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  18 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
  36 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
  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 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
  20 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
  59 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
  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
  33 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
  79 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 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
  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

  17 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

  41 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)

• Functional variation in the serotonin transporter gene decreases in vivo brain serotonin 2A receptor binding

  Haugbol, S., Pinborg, L. H., Frokjaer, V. G., Erritzoe, D., Marner, L., Hasselbalch, S. G., Svarer, C., Hasholt, L., Holm, S., Paulson, O. B. & Knudsen, G. M., 13 Nov 2007, In: Journal of Cerebral Blood Flow and Metabolism. 27, SUPPL. 1, p. BP11-01M

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

• 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

  43 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

  32 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
  72 Citations (Scopus)