Anne Nørremølle
Associate Professor
Medical Genetics Program
Blegdamsvej 3
2200 København N.
- 1992
- Published
Exclusion of DNA changes in the *GB-subunit of the C-GMP phosphodiesterase gene as the cause for Huntington's disease
Riess, O., Nørremølle, Anne, 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
- Published
Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis
Riess, O., Weber, B., Nørremølle, Anne, 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
- Published
Nucleotide sequence and PCR-amplification of a polymorphic MboI site in human DNA marker D4S95 linked to the Huntington disease locus.
Nørremølle, Anne, 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
- Published
The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa
Riess, O., Nørremølle, Anne, Weber, B., Musarella, M. A. & Hayden, M. R., 1992, In: American Journal of Human Genetics. 51, 4, p. 755-62 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 1993
- Published
DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington's disease
Andrew, S., Theilmann, J., Almquist, E., Nørremølle, Anne, 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
- Published
Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease
Riess, O., Nørremølle, Anne, Sørensen, S. A. & Epplen, J. T., 1993, In: Human Molecular Genetics. 2, 6, p. 637Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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, Anne, 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
- Published
Trinucleotide repeat elongation in the Huntington gene in Huntington Disease patients from 71 Danish families
Nørremølle, Anne, 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
- 1995
- Published
Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease
Nørremølle, Anne, Sørensen, S. A., Fenger, K. & Hasholt, L., 1995, In: Clinical Genetics. 47, p. 113-117Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Elongated CAG repeats of the B37 gene in a Danish family with dentatorubro-pallido-luysian atrophy
Nørremølle, Anne, Nielsen, J. E., Sørensen, S. A. & Hasholt, Lis Frydenreich, 1995, In: Human Genetics. 95, p. 313-318Research output: Contribution to journal › Journal article › Research › peer-review
- 1996
- Published
Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family.
Nielsen, Jørgen Erik, Sørensen, S. A., Hasholt, Lis Frydenreich & Nørremølle, Anne, 1996, In: Movement Disorders. 11, 5, p. 533-541 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2000
- Published
Inhibition of Huntingtin synthesis by antisense oligodeoxynucleotides
Nellemann, C. L., Abell, K., Nørremølle, Anne, Løkkegaard, T., Naver, B., Röpke, C., Rygaard, J., Sørensen, S. A. & Hasholt, Lis Frydenreich, 2000, In: Molecular and Cellular Neuroscience. 16, p. 313-323Research output: Contribution to journal › Journal article › Research › peer-review
- 2003
- Published
Antisense downregulation of mutant huntingtin in a cell model
Hasholt, Lis Frydenreich, Abell, K., Nørremølle, Anne, Nellemann, C., Fenger, K. & Sørensen, S. A., 2003, In: Journal of Gene Medicine. Vol. 5, p. 528-538Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cells exposed to a huntingtin fragment containing an expanded polyglutamine tract show no sign of ion channel formation: results arguing against the ion channel hypothesis.
Nørremølle, Anne, Grunnet, Morten, Hasholt, Lis Frydenreich & Sørensen, S. A., 2003, In: Journal of Neuroscience Research. 71, 1, p. 132-7 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Sekventering
Nørremølle, Anne, 2003, DNA og RNA. En håndbog. København: Gad, p. 161-180Research output: Chapter in Book/Report/Conference proceeding › Report chapter › Research
- 2004
- Published
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
Nielsen, Jørgen Erik, Johnson, B., Koefoed, P., Scheuer, K. H., Grønbech-Jensen, M., Law, I., Krabbe, K., Nørremølle, Anne, Eiberg, Hans Rudolf Lytchoff, Søndergård, H., Dam, M., Rehfeld, J. F., Krarup, C., Paulson, Olaf B., Hasholt, Lis Frydenreich & Sørensen, S. A., 2004, In: European Journal of Neurology. 11, 12, p. 817-824 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins
Nørremølle, Anne, Hasholt, Lis Frydenreich, Petersen, C. B., Eiberg, Hans Rudolf Lytchoff, Hasselbalch, S. G., Gideon, P., Nielsen, J. E. & Sørensen, S. A., 2004, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 130, p. 154-159Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection
Nielsen, Jørgen Erik, Koefoed, P., Kjaergaard, S., Jensen, L. N., Nørremølle, Anne & Hasholt, Lis Frydenreich, 2004, In: Prenatal Diagnosis. 24, 5, p. 363-6 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2006
- Published
Meiotic CAG repeat instability in spinocerebellar ataxia type 6: Maternally transmitted elongation in a presumed sporadic case
Lindquist, S. G., Nørremølle, Anne, Hjermind, L. E., Hasholt, Lis Frydenreich & Nielsen, J. E., 2006, In: Journal of the Neurological Sciences. 241, 1-2, p. 95-98 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
MicroRNAs in mammalian brain
Christensen, M., Bak, M., Silahtaroglu, A., Kloosterman, W., Skryapin, B., Nolting, D., Nørremølle, Anne, Lassen, A., Halsholm, L., Brosius, J., Tommerup, Niels, Plasterk, R. & Kauppinen, M. S., 2006, p. 1.Research output: Working paper › Research
- 2008
- Published
A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment
Lindquist, S. G., Hasholt, Lis Frydenreich, Bahl, J. M. C., Heegaard, N. H. H., Andersen, B. B., Nørremølle, Anne, Stokholm, J., Schwartz, M., Batbayli, M., Laursen, H., Pardossi-Piquard, R., Chen, F., George-Hyslop, P. S., Waldemar, Gunhild & Nielsen, J. E., 2008, In: European Journal of Neurology. 15, 10, p. 1135-1139 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Impaired glucose tolerance in the R6/1 transgenic mouse model of Huntington's disease
Josefsen, K., Nielsen, M. D., Jorgensen, K. H., Bock, T., Nørremølle, Anne, Sørensen, S. A., Naver, B. & Hasholt, Lis Frydenreich, 2008, In: Journal of Neuroendocrinology. 20, 2, p. 165-172 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Inhibition of endoplasmic reticulum stress counteracts neuronal cell death and protein aggregation caused by N-terminal mutant huntingtin proteins
Reijonen, S., Putkonen, N., Nørremølle, Anne, 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
- 2009
- Published
4p16.3 haplotype modifying age at onset of Huntington disease
Nørremølle, Anne, Budtz-Joergensen, Esben, Fenger, K., Nielsen, Jørgen Erik, Sørensen, S. A. & Hasholt, Lis Frydenreich, 2009, In: Clinical Genetics. 75, 3, p. 244-50 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Huntington's disease does not appear to increase the risk of diabetes mellitus
Boesgaard, T. W., Nielsen, T. T., Josefsen, K. E., Hansen, T., Jørgensen, T., Pedersen, O., Nørremølle, Anne, Nielsen, Jørgen Erik & Hasholt, Lis Frydenreich, 2009, In: Journal of Neuroendocrinology. 21, 9, p. 770-6 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 3886
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Integrative Characterization of the R6/2 Mouse Model of Huntington's Disease Reveals Dysfunctional Astrocyte Metabolism
Research output: Contribution to journal › Journal article › Research › peer-review
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151
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Serotonin transporter gene (SLC6A4) variation and sensory processing sensitivity—Comparison with other anxiety-related temperamental dimensions
Research output: Contribution to journal › Journal article › Research › peer-review
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Nicotinamide Adenine Dinucleotide Phosphate Oxidases Are Everywhere in Brain Disease, but Not in Huntington’s Disease?
Research output: Contribution to journal › Review › Research › peer-review
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