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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published

    Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time

    Horn, N., Møller, L. B., Nurchi, V. M. & Aaseth, J., Jan 2019, In : Journal of Inorganic Biochemistry. 190, p. 98-112 15 p.

    Research output: Contribution to journalReviewResearchpeer-review

  3. 2018
  4. Published
  5. Published
  6. Published

    Comparison of two different culture conditions for derivation of early hiPSC

    Hey, C. A. B., Saltoõkova, K. B., Bisgaard, H. C. & Møller, L. B., 30 Mar 2018, In : Journal of Cell Biology. 42, 11, p. 1467-1473

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Første danske patient med et genkendeligt genetisk KBG-syndrom

    Bayat, A., Møller, L. B. & Hjortshøj, T. D., 12 Mar 2018, In : Ugeskrift for Laeger. 180, 11, p. V11170848

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms

    Rosengren, T., Larsen, L. J., Pedersen, L. B., Christensen, S. T. & Møller, L. B., 2 Feb 2018, In : Cellular and molecular life sciences : CMLS. 75, 14, p. 2663-2680

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published
  10. Published
  11. Published

    Heterozygous Mutations in Gtp-Cyclohydrolase-1 Reduce Bh4 Biosynthesis but Not Pain Sensitivity

    Nasser, A., Møller, A. T., Hellmund, V., Thorborg, S. S., Jespersgaard, C., Bjerrum, O. J., Dupont, E., Nachman, G., Lykkesfeldt, J., Jensen, T. S. & Møller, L. B., 2018, In : Pain. 159, 6, p. 1012-1024

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2017
  13. Published

    A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment

    Tümer, Z., Petris, M., Zhu, S., Mercer, J., Bukrinski, J., Bilz, S., Baerlocher, K., Horn, N. & Møller, L. B., Nov 2017, In : Clinical Genetics. 92, 5, p. 548-553 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

    Skjørringe, T., Amstrup Pedersen, P., Salling Thorborg, S., Nissen, P., Gourdon, P. & Birk Møller, L., 7 Apr 2017, In : Scientific Reports. 7, 1, p. 757

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex

    Møller, L. B., Schönewolf-Greulich, B., Rosengren, T., Larsen, L. J., Ostergaard, J. R., Sommerlund, M., Ostenfeldt, C., Stausbøl-Grøn, B., Linnet, K. M., Gregersen, P. A. & Jensen, U. B., Apr 2017, In : Molecular Genetics and Metabolism. 120, 4, p. 384-391 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

    Lindquist, S. G., Møller, L. B., Dali, C. I., Marner, L., Kamsteeg, E-J., Nielsen, J. E. & Hjermind, L. E., 2017, In : Cerebellum (London, England). 16, 1, p. 268-71

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published
  18. 2016
  19. Published

    Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

    Bayat, A., Yasmeen, S., Lund, A., Nielsen, J. B. & Møller, L. B., Sep 2016, In : Clinical Genetics. 90, 3, p. 247-51

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Dad, S., Rendtorff, N. D., Tranebjærg, L., Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, Ø., Roux, A-F., Rosenberg, T., Jensen, H. & Møller, L. B., Sep 2016, In : Molecular Genetics & Genomic Medicine. 4, 5, p. 527-539 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

    Bonnet, C., Riahi, Z., Chantot-Bastaraud, S., Smagghe, L., Letexier, M., Marcaillou, C., Lefèvre, G. M., Hardelin, J-P., El-Amraoui, A., Singh-Estivalet, A., Mohand-Saïd, S., Kohl, S., Kurtenbach, A., Sliesoraityte, I., Zobor, D., Gherbi, S., Testa, F., Simonelli, F., Banfi, S., Fakin, A., Glavač, D., Jarc-Vidmar, M., Zupan, A., Battelino, S., Martorell Sampol, L., Claveria, M. A., Catala Mora, J., Dad, S., Møller, L. B., Rodriguez Jorge, J., Hawlina, M., Auricchio, A., Sahel, J-A., Marlin, S., Zrenner, E., Audo, I. & Petit, C., 2016, In : European journal of human genetics : EJHG. 24, 12, p. 1730-38

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures

    Lenartowicz, M., Moos, T., Ogórek, M., Jensen, T. G. & Møller, L. B., 2016, In : Frontiers in Molecular Neuroscience. 9, p. 68

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2015
  24. Published

    Partial USH2A deletions contribute to Usher syndrome in Denmark

    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., Mehrjouy, M. M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H. & Møller, L. B., Dec 2015

    Research output: Other contributionResearch

  25. Published

    Partial USH2A deletions contribute to Usher syndrome in Denmark

    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., Mehrjouy, M. M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H. & Møller, L. B., Dec 2015, 6 p.

    Research output: Other contributionResearch

  26. Published

    Diagnostik og behandling af fenylketonuri

    Bayat, A., Møller, L. B. & Lund, A. M., 16 Feb 2015, In : Ugeskrift for læger [online]. 177, 8, p. V07140383

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Intraplantar injection of tetrahydrobiopterin induces nociception in mice

    Nasser, A., Ali, S., Wilsbech, S., Bjerrum, O. J. & Møller, L. B., 1 Jan 2015, In : Neuroscience Letters. 584, p. 247-52 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Mottled Mice and Non-Mammalian Models of Menkes Disease

    Lenartowicz, M., Krzeptowski, W., Lipiński, P., Grzmil, P., Starzyński, R., Pierzchała, O. & Møller, L. B., 2015, In : Frontiers in Molecular Neuroscience. 8, p. 72

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published
  30. 2014
  31. Published

    Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonal guidance

    Kaalund, S. S., Venø, M. T., Bak, M., Møller, R. S., Laursen, H., Madsen, F., Broholm, H., Quistorff, B., Uldall, P., Tommerup, N., Kauppinen, S., Sabers, A., Fluiter, K., Møller, L. B., Nossent, A. Y., Silahtaroglu, A., Kjems, J., Aronica, E. & Tümer, Z., Dec 2014, In : Epilepsia. 55, 12, p. 2017-27 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin

    Nasser, A., Møller, L. B., Olesen, J. H., Konradsen, L. S. & Andreasen, J. T., Dec 2014, In : Neuroscience Research. 89, p. 44-53 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Missense dopamine transporter mutations associate with adult parkinsonism and ADHD

    Hansen, F. H., Skjørringe, T., Yasmeen, S., Arends, N. V., Sahai, M. A., Erreger, K., Andreassen, T. F., Holy, M., Hamilton, P. J., Neergheen, V., Karlsborg, M., Newman, A. H., Pope, S., Heales, S. J. R., Friberg, L., Law, I., Pinborg, L. H., Sitte, H. H., Loland, C., Shi, L., Weinstein, H., Galli, A., Hjermind, L. E., Møller, L. B. & Gether, U., 1 Jul 2014, In : The Journal of clinical investigation. 124, 7, p. 3107-20 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Functional Dopamine Missense Dopamine Transporter Mutations Associated with Adult Parkinsonism and ADHD

    Hansen, F. H., Skjørringe, T., Yasmeen, S., Arends, N. V., Sahai, M. A., Erreger, K., Andreassen, T. F., Holy, M., Hamilton, P. J., Neergheen, V., Karlsborg, M., Newman, A. H., Pope, S., Heales, SJ., Friberg, L. A., Law, I., Pinborg, L. H., Sitte, H., Loland, C. J., Shi, L., Weinstein, H., Galli, A., Hjermind, L. E., Møller, L. B. & Gether, U., Jul 2014, In : Journal of Clinical Investigation. p. 3107-20 14 p., jun.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    GCH1 variants, tetrahydrobiopterin and their effects on pain sensitivity

    Nasser, A. & Møller, L. B., Apr 2014, In : Scandinavian Journal of Pain. 5, 2, p. 121-128 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Copper-transporting P-type ATPases use a unique ion-release pathway

    Andersson, M., Mattle, D., Sitsel, O., Klymchuk, T., Nielsen, A. M., Møller, L. B., White, S. H., Nissen, P. & Gourdon, P., Jan 2014, In : Nature Structural and Molecular Biology. 21, 1, p. 43-8 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published
  38. Published

    Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

    Yasmeen, S., Lund, K., De Paepe, A., De Bie, S., Heiberg, A., Silva, J. J. E., Martins, M., Skjørringe, T. & Møller, L. B., 2014, In : European journal of human genetics : EJHG. 22, p. 517-21

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. 2013
  40. Published

    A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

    Møller, L. B., Rea, G., Yasmeen, S., Skjørringe, T., Thorborg, S. S., Morrison, P. J. & Donnelly, D. E., Dec 2013, In : Molecular Genetics and Metabolism. 110, 4, p. 490-2 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Impaired behavioural pain responses in hph-1 mice with inherited deficiency in GTP cyclohydrolase 1 in models of inflammatory pain

    Nasser, A., Bjerrum, O. J., Heegaard, A-M., Møller, A. T., Larsen, M., Dalbøge, L. S., Dupont, E., Jensen, T. & Møller, L. B., 2013, In : Molecular Pain. 9, p. 5

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

    Ostergaard, E., Duno, M., Møller, L. B., Kalkanoglu-Sivri, H. S., Dursun, A., Aliefendioglu, D., Leth, H. B., Dahl, M., Christensen, E. & Wibrand, F., 2013, In : JIMD Reports. 9, p. 1-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. 2012
  44. Published

    Clinical expression of Menkes disease in females with normal karyotype

    Møller, L. B., Lenartowicz, M., Zabot, M-T., Josiane, A., Burglen, L., Bennett, C., Riconda, D., Fisher, R., Janssens, S., Mohammed, S., Ausems, M., Tümer, Z., Horn, N. & Jensen, T., 2012, In : Orphanet Journal of Rare Diseases. 7, p. 6

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Clinical utility gene card for: Phenylketonuria

    Zschocke, J., Haverkamp, T. & Møller, L. B., 2012, In : European Journal of Human Genetics. 20, 2

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published
  47. Published

    Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

    Huppke, P., Brendel, C., Korenke, G. C., Marquardt, I., Donsante, A., Yi, L., Hicks, J. D., Steinbach, P. J., Wilson, C., Elpeleg, O., Møller, L. B., Christodoulou, J., Kaler, S. G. & Gärtner, J., 2012, In : Human Mutation. 33, 8, p. 1207-15 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

    Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nürnberg, G., Nürnberg, P., Dad, S., Møller, L. B., Kaler, S. G. & Gärtner, J., 2012, In : American Journal of Human Genetics. 90, 1, p. 61-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Neonatal erythroderma as a first manifestation of Menkes disease

    Galve, J., Vicente, A., González-Enseñat, M. A., Pérez-Dueñas, B., Cusí, V., Møller, L. B., Julià, M., Domínguez, A. & Ferrando, J., 2012, In : Pediatrics (English Edition). 130, 1, p. e239-42

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)

    Lenartowicz, M., Krzeptowski, W., Koteja, P., Chrząścik, K. & Møller, L. B., 2012, In : P L o S One. 7, 7, p. e40400

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    Structural models of the human copper P-type ATPases ATP7A and ATP7B

    Gourdon, P., Sitsel, O., Lykkegaard Karlsen, J., Birk Møller, L. & Nissen, P., 2012, In : Biological Chemistry. 393, 4, p. 205-16 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. 2011
  53. Published

    Crystal structure of a copper-transporting PIB-type ATPase

    Gourdon, P., Liu, X-Y., Skjørringe, T., Morth, J. P., Møller, L. B., Pedersen, B. P. & Nissen, P., 7 Jul 2011, In : Nature. 475, 7354, p. 59-64 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Exon duplications in the ATP7A gene: frequency and transcriptional behaviour

    Mogensen, M., Skjørringe, T., Kodama, H., Silver, K., Horn, N. & Møller, L. B., 2011, In : Orphanet Journal of Rare Diseases. 6, p. 73

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays

    Poulsen, L., Søe, M. J., Møller, L. B. & Dufva, M., 2011, In : P L o S One. 6, 3, p. e14777

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. Published

    Splice site mutations in the ATP7A gene

    Skjørringe, T., Tümer, Z. & Møller, L. B., 2011, In : P L o S One. 6, 4, p. e18599

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. 2005
  58. Published

    Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria

    Kalkanoğlu, H. S., Ahring, K. K., Sertkaya, D., Møller, L. B., Romstad, A., Mikkelsen, I., Guldberg, P., Lou, H. C. & Güttler, F., Sep 2005, In : Acta paediatrica. 94, 9, p. 1218-22 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  59. 1990
  60. Published

    The urokinase receptor and regulation of cell surface plasminogen activation

    Blasi, F., Behrendt, N., Cubellis, M. V., Ellis, V., Lund, L. R., Masucci, M. T., Møller, L. B., Olson, D. P., Pedersen, N. & Ploug, M., 2 Dec 1990, In : Cell differentiation and development : the official journal of the International Society of Developmental Biologists. 32, 3, p. 247-53 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 36882857