Research output per year
Research output per year
Research output
Search results
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2020
Investigating the feasibility of using assessment and explanatory feedback in desktop virtual reality simulations
Makransky, G., Mayer, R., Nøremølle, A., Cordoba, A. L., Wandall, J. & Bonde, M., 1 Feb 2020, In: Educational Technology Research and Development.Research output: Contribution to journal › Journal article › Research › peer-review
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2019
Enhanced cerebral branched-chain amino acid metabolism in R6/2 mouse model of Huntington's disease
Andersen, J. V., Skotte, N. H., Aldana, B. I., Nørremølle, A. & Waagepetersen, H. S., 1 Jun 2019, In: Cellular and Molecular Life Sciences. 76, 12, p. 2449-2461Research output: Contribution to journal › Journal article › Research › peer-review
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Functional Differences between Synaptic Mitochondria from the Striatum and the Cerebral Cortex
Petersen, M. H., Willert, C. W., Andersen, J. V., Waagepetersen, H. S., Skotte, N. H. & Nørremølle, A., 15 May 2019, In: Neuroscience. 406, p. 432-443 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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Haploinsufficiency of ARHGAP42 is associated with hypertension
Fjorder, A. S., Rasmussen, M. B., Mehrjouy, M. M., Nazaryan-Petersen, L., Hansen, C., Bak, M., Grarup, N., Nørremølle, A., Larsen, L. A., Vestergaard, H., Hansen, T., Tommerup, N. & Bache, I., 1 Aug 2019, In: European Journal of Human Genetics. 27, 8, p. 1296-1303 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2018
Integrative Characterization of the R6/2 Mouse Model of Huntington's Disease Reveals Dysfunctional Astrocyte Metabolism
Skotte, N. H., Andersen, J. V., Santos, A., Aldana, B. I., Willert, C. W., Nørremølle, A., Waagepetersen, H. S. & Nielsen, M. L., 15 May 2018, In: Cell Reports. 23, 7, p. 2211-2224 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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. 118-129Research output: Contribution to journal › Journal article › Research › peer-review
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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. 617-621Research output: Contribution to journal › Journal article › Research › peer-review
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TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)
Rostgaard, N., Roos, P., Budtz-Jørgensen, E., Johannsen, P., Waldemar, G., Nørremølle, A., Lindquist, S. G., Gydesen, S., Brown, J. M., Collinge, J., Isaacs, A. M., Nielsen, T. T., Nielsen, J. E. & FReJA collaboration, Nov 2017, In: Neurobiology of Aging. 59, p. 221.e1-221.e7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2016
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
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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
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Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education
Makransky, G., Bonde, M. T., Wulff, J. S. G., Wandall, J., Hood, M., Creed, P. A., Bache, I., Silahtaroglu, A. & Nørremølle, A., 25 Mar 2016, In: B M C Medical Education. 16, 1, p. 1-9 9 p., 98.Research output: Contribution to journal › Journal article › Research › peer-review
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2015
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease
Bečanović, K., Nørremølle, A., Neal, S. J., Kay, C., Collins, J. A., Arenillas, D., Lilja, T., Gaudenzi, G., Manoharan, S., Doty, C. N., Beck, J., Lahiri, N., Portales-Casamar, E., Warby, S. C., Connolly, C., De Souza, R. A. G., Tabrizi, S. J., Hermanson, O., Langbehn, D. R. & Hayden, M. R. & 3 others, , 28 Jun 2015, In: Nature Neuroscience. 18, 6, p. 807-816 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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. 7Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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2014
A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntingtons disease
Vinther-Jensen, T., Larsen, I. U., Hjermind, L. E., Budtz-Jørgensen, E., Nielsen, T. T., Nørremølle, A., Nielsen, J. E. & Vogel, A., 17 Jul 2014, In: Orphanet Journal of Rare Diseases. 9, 1, p. 1-9 9 p., 114.Research output: Contribution to journal › Journal article › Research › peer-review
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Central 5-HT4 receptor binding as biomarker of serotonergic tonus in humans: a [11C]SB207145 PET study
Haahr, M. E., Fisher, P. M., Jensen, C. G., Frokjaer, V. G., Mahon, B. M., Madsen, K., Baaré, W. F. C., Lehel, S., Norremolle, A., Rabiner, E. A. & Knudsen, G. M., Apr 2014, In: Molecular Psychiatry. 19, 4, p. 427-32 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease
Petersen, M. H., Budtz-Jørgensen, E., Sørensen, S. A., Nielsen, J. E., Hjermind, L. E., Vinther-Jensen, T., Nielsen, S. M. B. & Nørremølle, A., Jul 2014, In: Mitochondrion. 17, p. 14-21 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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. 5Research output: Contribution to journal › Journal article › Research › peer-review
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2012
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, , 6 Mar 2012, In: Neurology. 78, 10, p. 690-5 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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2011
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
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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
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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, , 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
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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
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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
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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
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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
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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, , 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
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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) -
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) -
Inhibition of endoplasmic reticulum stress counteracts neuronal cell death and protein aggregation caused by N-terminal mutant huntingtin proteins
Reijonen, S., Putkonen, N., Nørremølle, A., Lindholm, D. & Korhonen, L., 2008, In: Experimental Cell Research. 314, 5, p. 950-960 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
117 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) -
MicroRNAs in mammalian brain
Christensen, M., Bak, M., Silahtaroglu, A., Kloosterman, W., Skryapin, B., Nolting, D., Nørremølle, A., Lassen, A.-C., Halsholm, L., Brosius, J., Tommerup, N., Plasterk, R. & Kauppinen, M. S., 2006, p. 1.Research output: Working paper › Research
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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
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. 154-159Research 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
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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. 528-538Research 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
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Sekventering
Nørremølle, A., 2003, DNA og RNA. En håndbog. København: Gad, p. 161-180Research output: Chapter in Book/Report/Conference proceeding › Report chapter › Research
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2000
Inhibition of Huntingtin synthesis by antisense oligodeoxynucleotides
Nellemann, C. L., Abell, K., Nørremølle, A., Løkkegaard, T., Naver, B., Röpke, C., Rygaard, J., Sørensen, S. A. & Hasholt, L., 2000, In: Molecular and Cellular Neuroscience. 16, p. 313-323Research output: Contribution to journal › Journal article › Research › peer-review
33 Citations (Scopus) -
1996
Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family.
Nielsen, J. E., Sørensen, S. A., Hasholt, L. F. & Nørremølle, A., 1996, In: Movement Disorders. 11, 5, p. 533-541 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
21 Citations (Scopus) -
1995
Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease
Nørremølle, A., Sørensen, S. A., Fenger, K. & Hasholt, L., 1995, In: Clinical Genetics. 47, p. 113-117Research output: Contribution to journal › Journal article › Research › peer-review
31 Citations (Scopus) -
Elongated CAG repeats of the B37 gene in a Danish family with dentatorubro-pallido-luysian atrophy
Nørremølle, A., Nielsen, J. E., Sørensen, S. A. & Hasholt, L. F., 1995, In: Human Genetics. 95, p. 313-318Research output: Contribution to journal › Journal article › Research › peer-review
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1993
DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington's disease
Andrew, S., Theilmann, J., Almquist, E., Nørremølle, A., Lucotte, G., Anvret, M., Sørensen, S. A., Turpin, J. C. & Hayden, M. R., 1993, In: Clinical Genetics. 43, p. 286-294Research output: Contribution to journal › Journal article › Research › peer-review
24 Citations (Scopus) -
Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease
Riess, O., Noerremoelle, A., Sørensen, S. A. & Epplen, J. T., 1993, In: Human Molecular Genetics. 2, 6, p. 637Research output: Contribution to journal › Journal article › Research › peer-review
70 Citations (Scopus) -
Mapping of the human NMDA receptor subunit (NMDAR1) and the proposed NMDA receptor glutamate-binding subunit (NMDARA1) to chromosomes 9q34.3 and chromosome 8, respectively
Collins, C., Duff, C., Duncan, A. M., Planells-Cases, R., Sun, W., Nørremølle, A., Michaelis, E., Montal, M., Worton, R. & Hayden, M. R., 1993, In: Genomics. 17, 1, p. 237-9 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Trinucleotide repeat elongation in the Huntington gene in Huntington Disease patients from 71 Danish families
Nørremølle, A., Riess, O., Epplen, J. T., Fenger, K., Hasholt, L. & Sørensen, S. A., 1993, In: Human Molecular Genetics. 2, p. 1475-1476Research output: Contribution to journal › Journal article › Research › peer-review
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1992
Exclusion of DNA changes in the *GB-subunit of the C-GMP phosphodiesterase gene as the cause for Huntington's disease
Riess, O., Nørremølle, A., Collins, C., Mah, D., Weber, B. & Hayden, M. R., 1992, In: Nature Genetics. 1, p. 104-108Research output: Contribution to journal › Journal article › Research › peer-review
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Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis
Riess, O., Weber, B., Nørremølle, A., Shaikh, R. A., Hayden, M. R. & Musarella, M. A., 1992, In: Human Mutation. 1, 6, p. 478-85 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Nucleotide sequence and PCR-amplification of a polymorphic MboI site in human DNA marker D4S95 linked to the Huntington disease locus.
Nørremølle, A., Sørensen, S. A. & Arctander, P., 1992, In: Clinical Genetics. 42, p. 210-211 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus)