Anne Nørremølle

Anne Nørremølle

Associate professor, Associate Professor


  1. 2019
  2. Published

    Functional Differences between Synaptic Mitochondria from the Striatum and the Cerebral Cortex. / Petersen, Maria Hvidberg; Willert, Cecilie Wennemoes; Andersen, Jens Velde; Waagepetersen, Helle Sønderby; Skotte, Niels Henning; Nørremølle, Anne.

    In: Neuroscience, Vol. 406, 05.2019, p. 432-443.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Enhanced cerebral branched-chain amino acid metabolism in R6/2 mouse model of Huntington's disease. / Andersen, Jens V.; Skotte, Niels H.; Aldana, Blanca I.; Nørremølle, Anne; Waagepetersen, Helle S.

    In: Cellular and Molecular Life Sciences, Vol. 76, No. 12, 2019, p. 2449-2461.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Ghrelin-mediated improvements in the metabolic phenotype in the R6/2 mouse model of Huntington's disease. / Rudenko, Olga; Springer, Cecilie; Skov, Louisa J.; Madsen, Andreas N.; Hasholt, Lis; Nørremølle, Anne; Holst, Birgitte.

    In: Journal of Neuroendocrinology, Vol. 31, No. 7 (SI), e12699, 2019.

    Research output: Contribution to journalConference articleResearchpeer-review

  5. Published

    Haploinsufficiency of ARHGAP42 is associated with hypertension. / Fjorder, Amanda S.; Rasmussen, Malene B.; Mehrjouy, Mana M.; Nazaryan-Petersen, Lusine; Hansen, Claus; Bak, Mads; Grarup, Niels; Nørremølle, Anne; Larsen, Lars A.; Vestergaard, Henrik; Hansen, Torben; Tommerup, Niels; Bache, Iben.

    In: European Journal of Human Genetics, Vol. 27, No. 8, 2019, p. 1296-1303.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. E-pub ahead of print

    Investigating the feasibility of using assessment and explanatory feedback in desktop virtual reality simulations. / Makransky, Guido; Mayer, Richard; Nøremølle, Anne; Cordoba, Ainara Lopez; Wandall, Jakob; Bonde, Mads.

    In: Educational Technology Research and Development, 2019.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2018
  8. Published
  9. Published

    Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington's disease model. / Reynolds, Regina Hertfelder; Petersen, Maria Hvidberg; Willert, Cecilie Wennemoes; Heinrich, Marie; Nymann, Nynne; Dall, Morten; Treebak, Jonas T.; Björkqvist, Maria; Silahtaroglu, Asli; Hasholt, Lis; Nørremølle, Anne.

    In: Molecular and Cellular Neuroscience, Vol. 88, 2018, p. 118-129.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2017
  11. Published

    TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). / Rostgaard, Nina; Roos, Peter; Budtz-Jørgensen, Esben; Johannsen, Peter; Waldemar, Gunhild; Nørremølle, Anne; Lindquist, Suzanne G.; Gydesen, Susanne; Brown, Jeremy M.; Collinge, John; Isaacs, Adrian M.; Nielsen, Troels T.; Nielsen, Jørgen E; FReJA collaboration.

    In: Neurobiology of Aging, Vol. 59, 11.2017, p. 221.e1-221.e7.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease. / Hasholt, Lis; Ballegaard, Martin; Bundgaard, Henning; Christiansen, Michael; Law, Ian; Lund, Allan M.; Norremolle, Anne; Rasmussen, Ase Krogh; Ravn, Kirstine; Tumer, Zeynep; Wibrand, Flemming; Feldt-Rasmussen, Ulla.

    In: Scandinavian Journal of Clinical & Laboratory Investigation, Vol. 77, No. 8, 2017, p. 617-621.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2016
  14. Published

    Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting. / Nielsen, Signe Marie Borch; Vinther-Jensen, Tua; Nielsen, Jørgen E.; Nørremølle, Anne; Hasholt, Lis; Hjermind, Lena E.; Josefsen, Knud.

    In: Journal of the Neurological Sciences, Vol. 362, 15.03.2016, p. 326-332.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes. / Vinther-Jensen, T; Nielsen, Troels Tolstrup; Budtz-Jørgensen, E; Larsen, I U; Hansen, Mathias Melgaard; Hasholt, L; Hjermind, L E; Nielsen, J E; Nørremølle, A.

    In: Clinical Genetics, Vol. 89, No. 3, 03.2016, p. 320-327.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    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, Mads T; Wulff, Julie S G; Wandall, Jakob; Hood, Michelle; Creed, Peter A; Bache, Iben; Silahtaroglu, Asli; Nørremølle, Anne.

    In: B M C Medical Education, Vol. 16, No. 1, 98, 03.2016, p. 1-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2015
  18. Published

    A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease. / Bečanović, Kristina; Nørremølle, Anne; Neal, Scott J; Kay, Chris; Collins, Jennifer A; Arenillas, David; Lilja, Tobias; Gaudenzi, Giulia; Manoharan, Shiana; Doty, Crystal N; Beck, Jessalyn; Lahiri, Nayana; Portales-Casamar, Elodie; Warby, Simon C; Connolly, Colúm; De Souza, Rebecca A G; Tabrizi, Sarah J; Hermanson, Ola; Langbehn, Douglas R; Hayden, Michael R; Wasserman, Wyeth W; Leavitt, Blair R; REGISTRY Investigators of the European Huntington's Disease Network.

    In: Nature Neuroscience, Vol. 18, No. 6, 06.2015, p. 807-816.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington's Disease Mouse Model R6/2. / Nielsen, Signe Marie Borch; Hasholt, Lis; Nørremølle, Anne; Josefsen, Knud Elnegaard.

    In: PLoS Currents, Vol. 7, 20.04.2015.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  20. 2014
  21. Published

    A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntingtons disease. / Vinther-Jensen, Tua; Larsen, Ida U; Hjermind, Lena E; Budtz-Jørgensen, Esben; Nielsen, Troels T; Nørremølle, Anne; Nielsen, Jørgen E; Vogel, Asmus.

    In: Orphanet Journal of Rare Diseases, Vol. 9, No. 1, 114, 17.07.2014, p. 1-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Central 5-HT4 receptor binding as biomarker of serotonergic tonus in humans : a [11C]SB207145 PET study. / Haahr, M E; Fisher, P M; Jensen, Christian Gaden; Frokjaer, V G; Mahon, B Mc; Madsen, K; Baaré, W F C; Lehel, S; Norremolle, A; Rabiner, E A; Knudsen, G M.

    In: Molecular Psychiatry, Vol. 19, No. 4, 04.2014, p. 427-32.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease. / Petersen, Maria Hvidberg; Budtz-Jørgensen, Esben; Sørensen, Sven Asger; Nielsen, Jørgen Erik; Hjermind, Lena Elisabeth; Vinther-Jensen, Tua; Nielsen, Signe Marie Borch; Nørremølle, Anne.

    In: Mitochondrion, Vol. 17, 2014, p. 14-21.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. 2013
  25. Published

    Dysfunctional mitochondrial respiration in the striatum of the Huntington's disease transgenic R6/2 mouse model. / Aidt, Frederik Heurlin; Nielsen, Signe Marie Borch; Kanters, Jørgen; Pesta, Dominik; Nielsen, Troels Tolstrup; Nørremølle, Anne; Hasholt, Lis; Christiansen, Michael; Hagen, Christian Munch.

    In: PLoS Currents, Vol. 5, 2013.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2012
  27. Published

    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; 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, Lis Frydenreich; Nørremølle, Anne; Nielsen, Jørgen Erik; PREDICT-HD study of the Huntington Study Group (HSG).

    In: Neurology, Vol. 78, No. 10, 03.2012, p. 690-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 2011
  29. Published

    Discrepancies in reporting the CAG repeat lengths for Huntington's disease. / Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; Ramos-Arroyo, Maria; Biunno, Ida; Bauer, Peter; Kline, Margaret; Landwehrmeyer, G Bernhard; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich; Nørremølle, Anne; Nielsen, Jørgen Erik; European Huntington’s Disease Network.

    In: European Journal of Human Genetics, Vol. 20, No. 1, 08.2011, p. 20-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders. / Bech, Sara; Nørremølle, Anne; Winge, Kristian; Hasholt, Lis; Tommerup, Niels; Svenstrup, Kirsten; Nielsen, Jørgen E; Hjermind, Lena E.

    In: Parkinsonism & Related Disorders, Vol. 17, No. 5, 01.06.2011, p. 398-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Observing Huntington's disease : the European Huntington's Disease Network's REGISTRY. / Orth, Michael; Handley, O J; Schwenke, C; Dunnett, S; Wild, E J; Tabrizi, S J; Landwehrmeyer, G B; Hasholt, Lis Frydenreich; Hjermind, Lena Elisabeth; Nørremølle, Anne; Nielsen, Jørgen Erik; European Huntington's Disease Network.

    In: The Egyptian Journal of Neurology, Psychiatry, and Neurosurgery, Vol. 82, No. 12, 2011, p. 1409-12.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. 2010
  33. Published

    Reduced gluconeogenesis and lactate clearance in Huntington's disease. / Josefsen, Knud; Nielsen, Signe M B; Campos, André; Seifert, Thomas; Hasholt, Lis; Nielsen, Jørgen E; Nørremølle, Anne; Skotte, Niels H; Secher, Niels H; Quistorff, Bjørn.

    In: Neurobiology of Disease, Vol. 40, No. 3, 01.12.2010, p. 656-62.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women. / Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte; Jensen, Morten; Hoffman-Bang, Jakob; Andersen, Paal Skytt; Hasholt, Lis; Nørremølle, Anne; Feldt-Rasmussen, Ulla; Køber, Lars; Bundgaard, Henning; Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte; Jensen, Morten; Hofman-Bang, Jakob; Andersen, Paal Skytt; Hasholt, Lis Frydenreich; Nørremølle, Anne; Feldt-Rasmussen, Ulla; Køber, Lars; Bundgaard, Henning.

    In: European Journal of Heart Failure, Vol. 12, No. 6, 01.06.2010, p. 535-40.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. / Bech, Sara; Petersen, Thor; Nørremølle, Anne; Gjedde, Albert; Ehlers, Lise; Eiberg, Hans; Hjermind, Lena E; Hasholt, Lis; Lundorf, Erik; Nielsen, Jørgen E.

    In: Parkinsonism & Related Disorders, Vol. 16, No. 1, 2010, p. 12-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. 2009
  37. Published

    4p16.3 haplotype modifying age at onset of Huntington disease. / Nørremølle, A; Budtz-Jørgensen, E; Fenger, K; Nielsen, Jørgen Erik; Sørensen, S A; Hasholt, L.

    In: Clinical Genetics, Vol. 75, No. 3, 2009, p. 244-50.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Huntington's disease does not appear to increase the risk of diabetes mellitus. / Boesgaard, T W; Nielsen, Troels Tolstrup; Josefsen, Knud Elnegaard; Hansen, T; Jørgensen, T; Pedersen, O; Nørremølle, A; Nielsen, Jørgen Erik; Hasholt, L.

    In: Journal of Neuroendocrinology, Vol. 21, No. 9, 2009, p. 770-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. / Svenstrup, Kirsten; Bross, Peter; Koefoed, Pernille; Hjermind, Lena E; Eiberg, Hans; Born, A Peter; Vissing, John; Gyllenborg, Jesper; Nørremølle, Anne; Hasholt, Lis; Nielsen, Jørgen E; Svenstrup, Kirsten; Bross, Peter; Koefoed, Pernille; Hjermind, Lena E; Eiberg, Hans; Born, A Peter; Vissing, John; Gyllenborg, Jesper; Nørremølle, Anne; Hasholt, Lis; Nielsen, Jørgen E.

    In: Journal of the Neurological Sciences, Vol. 284, No. 1-2, 2009, p. 90-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. 2008
  41. Published

    A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment. / Lindquist, Susanne Granhøj; Hasholt, L.; Bahl, J.M.C.; Heegaard, N.H.H.; Andersen, B.B.; Nørremølle, Anne; Stokholm, J.; Schwartz, M.; Batbayli, M.; Laursen, Henning; Pardossi-Piquard, R.; Chen, F.; George-Hyslop, P. St; Waldemar, Gunhild; Nielsen, J.E.

    In: European Journal of Neurology, Vol. 15, No. 10, 2008, p. 1135-1139.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. 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, Svend Asger; Naver, B.; Hasholt, L.

    In: Journal of Neuroendocrinology, Vol. 20, No. 2, 2008, p. 165-172.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. 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.

    In: Experimental Cell Research, Vol. 314, No. 5, 2008, p. 950-960.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. 2006
  45. 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.

    In: Journal of the Neurological Sciences, Vol. 241, No. 1-2, 2006, p. 95-98.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    MicroRNAs in mammalian brain. / Christensen, M.; Bak, M.; Silahtaroglu, A.; Kloosterman, W.; Skryapin, B.; Nolting, D.; Nørremølle, Anne; Lassen, A.-C.; Halsholm, L.; Brosius, J.; Tommerup, Niels; Plasterk, R.; Kauppinen, Markus Sakari.

    2006. p. 1.

    Research output: Working paperResearch

  47. 2004
  48. Published

    Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. / Nielsen, Jørgen Erik; Johnson, B; Koefoed, Pernille; 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, O.B.; Hasholt, Lis Frydenreich; Sørensen, Sven Asger.

    In: European Journal of Neurology, Vol. 11, No. 12, 2004, p. 817-824.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins. / Nørremølle, Anne; Hasholt, Lis; Petersen, C.B.; Eiberg, Hans Rudolf Lytchoff; Hasselbalch, S.G.; Gideon, P.; Nielsen, J.E.; Sørensen, Sven Asger.

    In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, No. Vol. 130, 2004, p. 154-159.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. / Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne; Jensen, Lisa Neerup; Nørremølle, Anne; Hasholt, Lis.

    In: Prenatal Diagnosis, Vol. 24, No. 5, 2004, p. 363-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. 2003
  52. Published

    Antisense downregulation of mutant huntingtin in a cell model. / Hasholt, Lis Frydenreich; Abell, K.; Nørremølle, Anne; Nellemann, C.; Fenger, Kirsten; Sørensen, Sven Asger.

    In: Journal of Gene Medicine, No. Vol. 5, 2003, p. 528-538.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. 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; Sørensen, Sven Asger.

    In: Journal of Neuroscience Research, Vol. 71, No. 1, 2003, p. 132-7.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Sekventering. / Nørremølle, Anne.

    DNA og RNA. En håndbog. København : Gad, 2003. p. 161-180.

    Research output: Chapter in Book/Report/Conference proceedingReport chapterResearch

  55. 2000
  56. Published

    Inhibition of Huntingtin synthesis by antisense oligodeoxynucleotides. / Nellemann, Christine Lydia; Abell, Kathrine; Nørremølle, Anne; Løkkegaard, Thomas; Naver, Bjarke; Röpke, Carsten; Rygaard, Jørgen; Sørensen, Sven Asger; Hasholt, Lis.

    In: Molecular and Cellular Neuroscience, No. 16, 2000, p. 313-323.

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. 1996
  58. Published

    Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family. / Nielsen, Jørgen Erik; Sørensen, Sven Asger; Hasholt, Lis Frydenreich; Nørremølle, Anne.

    In: Movement Disorders, Vol. 11, No. 5, 1996, p. 533-541.

    Research output: Contribution to journalJournal articleResearchpeer-review

  59. 1995
  60. 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, Kirsten; Hasholt, L.

    In: Clinical Genetics, No. 47, 1995, p. 113-117.

    Research output: Contribution to journalJournal articleResearchpeer-review

  61. 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.

    In: Human Genetics, No. 95, 1995, p. 313-318.

    Research output: Contribution to journalJournal articleResearchpeer-review

  62. 1993
  63. 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, Michael R.

    In: Clinical Genetics, No. 43, 1993, p. 286-294.

    Research output: Contribution to journalJournal articleResearchpeer-review

  64. Published

    Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease. / Riess, O; Noerremoelle, A; Sørensen, Sven Asger; Epplen, J T.

    In: Human Molecular Genetics, Vol. 2, No. 6, 1993, p. 637.

    Research output: Contribution to journalJournal articleResearchpeer-review

  65. 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.

    In: Genomics, Vol. 17, No. 1, 1993, p. 237-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  66. Published

    Trinucleotide repeat elongation in the Huntington gene in Huntington Disease patients from 71 Danish families. / Nørremølle, Anne; Riess, O.; Epplen, J.T.; Fenger, Kirsten; Hasholt, L.; Sørensen, S.A.

    In: Human Molecular Genetics, No. 2, 1993, p. 1475-1476.

    Research output: Contribution to journalJournal articleResearchpeer-review

  67. 1992
  68. Published

    Exclusion of DNA changes in the *GB-subunit of the C-GMP phosphodiesterase gene as the cause for Huntington's disease. / Riess, Olaf; Nørremølle, Anne; Collins, Colin; Mah, Diana; Weber, Bernhard; Hayden, Michael R.

    In: Nature Genetics, No. 1, 1992, p. 104-108.

    Research output: Contribution to journalJournal articleResearchpeer-review

  69. 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.

    In: Human Mutation, Vol. 1, No. 6, 1992, p. 478-85.

    Research output: Contribution to journalJournal articleResearchpeer-review

  70. 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, Sven Asger; Arctander, Peter.

    In: Clinical Genetics, Vol. 42, 1992, p. 210-211.

    Research output: Contribution to journalJournal articleResearchpeer-review

  71. 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; Noerremoelle, A; Weber, B; Musarella, M A; Hayden, M R.

    In: American Journal of Human Genetics, Vol. 51, No. 4, 1992, p. 755-62.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 3886