Anne Nørremølle
Associate Professor
Medical Genetics Program
Blegdamsvej 3
2200 København N.
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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
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The significance of mitochondrial haplogroups in preeclampsia risk
Wendelboe Olsen, K., Hedley, P. L., Hagen, C. M., Rode, L., Placing, S., Wøjdemann, K. R., Shalmi, A. C., Sundberg, K., Nørremølle, Anne, Tabor, Ann, Elson, J. L. & Christiansen, M., 2023, In: Pregnancy Hypertension. 34, p. 146-151 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders
Bech, S., Nørremølle, Anne, Winge, K., Hasholt, Lis Frydenreich, Tommerup, Niels, Svenstrup, K., Nielsen, Jørgen Erik & 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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The D313Y variant in the GLA gene–no evidence of a pathogenic role in Fabry disease
Hasholt, Lis Frydenreich, Ballegaard, Martin, Bundgård, Henning, Christiansen, M., Law, Ian, Lund, Allan Meldgaard, Nørremølle, Anne, Krogh Rasmussen, A., Ravn, K., Tümer, Asuman Zeynep, Wibrand, F. & Feldt-Rasmussen, Ulla, 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
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The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease in 2 Danish families
Feldt-Rasmussen, Ulla, Hasholt, Lis Frydenreich, Ballegaard, Martin, Christiansen, M., Law, Ian, Lund, A., Nørremølle, Anne, Ravn, K., Rasmussen, A. K., Tuemer, Z., Bundgård, Henning & 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
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TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3)
Rostgaard, N., Roos, P., Budtz-Joergensen, Esben, Johannsen, P., Waldemar, Gunhild, Nørremølle, Anne, Lindquist, S. G., Gydesen, S., Brown, J. M., Collinge, J., Isaacs, A. M., Nielsen, T. T., Nielsen, Jørgen Erik & FReJA collaboration, F. C., 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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Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education
Makransky, Guido, Bonde, M. T., Wulff, J. S. G., Wandall, J., Hood, M., Creed, P. A., Bache, Iben, Silahtaroglu, Asli & Nørremølle, Anne, 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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Serotonin transporter gene (SLC6A4) variation and sensory processing sensitivity—Comparison with other anxiety-related temperamental dimensions
Licht, C. L., Mortensen, Erik Lykke, Hjordt, L. V., Stenbæk, Dea Siggaard, Arentzen, T. E., Nørremølle, Anne & Knudsen, Gitte Moos, 2020, In: Molecular Genetics and Genomic Medicine. 8, 8, 10 p., e1352.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
ID: 3886
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252
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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
Published -
151
downloads
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
Published -
22
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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
Published