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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. E-pub ahead of print

    Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

    Hepp, N., Frederiksen, A. L., Dunø, M., Jørgensen, N. R., Langdahl, B., Vedtofte, P., Hove, H. B., Hindsø, K. & Jensen, J-E. B., 5 Sep 2019, In : Calcified Tissue International.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

    Schönewolf-Greulich, B., Bisgaard, A-M., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Z., 2019, In : Clinical Genetics. 95, 2, p. 221-230

    Research output: Contribution to journalReviewResearchpeer-review

  4. Published

    Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Vaeth, S., Christensen, R., Dunø, M., Lildballe, D. L., Thorsen, K., Vissing, J., Svenstrup, K., Hertz, J. M., Andersen, H. & Jensen, U. B., 2019, In : European Journal of Medical Genetics. 62, p. 1-8

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Schönewolf-Greulich, B., Bisgaard, A-M., Dunø, M., Jespersgaard, C., Rokkjaer, M., Hansen, L. K., Tsoutsou, E., Sofokleous, C., Topcu, M., Kaur, S., Van Bergen, N. J., Brøndum-Nielsen, K., Larsen, M. J., Sørensen, K. P., Christodoulou, J., Fagerberg, C. R. & Tümer, Z., 2019, In : Clinical Genetics. 95, 3, p. 403-408

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

    Toft, A., Birk, S., Ballegaard, M., Dunø, M., Hjermind, L. E., Nielsen, J. E. & Svenstrup, K., 2019, In : Journal of Neurology. 266, 3, p. 735-744 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2018
  8. Published

    Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults

    Hald, J. D., Folkestad, L., Swan, C. Z., Wanscher, J., Schmidt, M., Gjørup, H., Haubek, D., Leonhard, C-H., Larsen, D. A., Hjortdal, J. Ø., Harsløf, T., Duno, M., Lund, A. M., Jensen, J-E. B., Brixen, K. & Langdahl, B., 1 Dec 2018, In : Osteoporosis International. 29, 12, p. 2781-2789

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

    Farrell, P., Férec, C., Macek, M., Frischer, T., Renner, S., Riss, K., Barton, D., Repetto, T., Tzetis, M., Giteau, K., Duno, M., Rogers, M., Levy, H., Sahbatou, M., Fichou, Y., Le Maréchal, C. & Génin, E., Dec 2018, In : European journal of human genetics : EJHG. 26, 12, p. 1832-1839 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

    Grønborg, S., Risom, L., Ek, J., Larsen, K. B., Scheie, D., Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, E., Oct 2018, In : European journal of human genetics : EJHG. 26, 10, p. 1512-1520 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Harlekiniktyose med mutation i ABCA12-genet

    Andersen, L. H. J., Kelstrup, L., Olsen, T. E., Dunø, M. & Jørgensen, F. S., 3 Sep 2018, In : Ugeskrift for Laeger. 180, 36, p. V01180078

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    BAG3 myopathy is not always associated with cardiomyopathy

    Andersen, A. G., Fornander, F., Schrøder, H. D., Krag, T., Straub, V., Duno, M. & Vissing, J., Sep 2018, In : Neuromuscular disorders : NMD. 28, 9, p. 798-801 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

    Nyboe, D., Kreiborg, S., Darvann, T., Dunø, M., Nissen, K. R. & Hove, H. B., Jul 2018, In : Clinical Dysmorphology. 27, 3, p. 71-77 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Ocular albinism with infertility and late-onset sensorineural hearing loss

    Fabian-Jessing, B. K., Vestergaard, E. M., Plomp, A. S., Bergen, A. A., Dreschler, W. A., Duno, M., Winiarska, B. S., Neumann, L., Gaihede, M., Vorum, H. & Petersen, M. B., Jul 2018, In : American Journal of Medical Genetics. Part A. 176, 7, p. 1587-1593 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome

    Witting, N., Laforêt, P., Voermans, N. C., Roux-Buisson, N., Bompaire, F., Rendu, J., Duno, M., Feillet, F., Kamsteeg, E-J., Poulsen, N. S., Dahlqvist, J. R., Romero, N. B., Fauré, J., Vissing, J. & Behin, A., May 2018, In : Acta Neurologica Scandinavica. 137, 5, p. 452-461 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts

    Witting, N., Krag, T., Werlauff, U., Duno, M., Oestergaard, S. T., Dahlqvist, J. R. & Vissing, J., 2018, In : Muscle and Nerve. 57, 6, p. 1026-1030

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

    Langdahl, J. H., Larsen, M., Frost, M., Andersen, P. H., Yderstraede, K. B., Vissing, J., Dunø, M., Thomassen, M. & Frederiksen, A. L., 2018, In : Clinical Genetics. 93, 4, p. 925-928

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2017
  19. Published

    Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

    Ben Yaou, R., Hubert, A., Nelson, I., Dahlqvist, J. R., Gaist, D., Streichenberger, N., Beuvin, M., Krahn, M., Petiot, P., Parisot, F., Michel, F., Malfatti, E., Romero, N., Carlier, R. Y., Eymard, B., Labrune, P., Duno, M., Krag, T., Cerino, M., Bartoli, M., Bonne, G., Vissing, J., Laforet, P. & Petit, F. M., Dec 2017, In : Neurology. Genetics. 3, 6, p. e208

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

    Jeppesen, T. D., Al-Hashimi, N., Duno, M., Wibrand, F., Andersen, G. & Vissing, J., Dec 2017, In : AACE clinical case reports. 5, 12, p. 2034-2039 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published
  22. Published

    Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case-Control Study

    Langdahl, J. H., Frederiksen, A. L., Hansen, S. J., Andersen, P. H., Yderstraede, K. B., Dunø, M., Vissing, J. & Frost, M., Oct 2017, In : Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 32, 10, p. 2041-2048 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study

    Andersen, G., Hedermann, G., Witting, N., Duno, M., Andersen, H. & Vissing, J., 1 Sep 2017, In : Brain : a journal of neurology. 140, 9, p. 2295-2305 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Exome sequencing for syndrome diagnostics

    Østergaard, E., Risom, L., Ek, J., Grønborg, S., Dunø, M. & Skovby, F., 24 Apr 2017, In : Ugeskrift for Laeger. 179, 17, p. V10160762

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

    Witting, N., Werlauff, U., Duno, M. & Vissing, J., Apr 2017, In : Neurology. Genetics. 3, 2, p. e140

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Individual pharmacokinetic variation leads to underdosing of ciprofloxacin in some cystic fibrosis patients

    Schultz, A. N. Ø., Høiby, N., Nielsen, X. C., Pressler, T., Dalhoff, K., Duno, M., Buchard, A., Johansen, H. K., Wang, H. & Dalbøge, C. S., Mar 2017, In : Pediatric Pulmonology. 52, 3, p. 319-323 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Leber hereditary optic neuropathy due to a new ND1 mutation

    Soldath, P., Wegener, M., Sander, B., Rosenberg, T., Duno, M., Wibrand, F. & Vissing, J., 1 Feb 2017, In : Ophthalmic Genetics. 38, 5, p. 480-485 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?

    Vissing, J. & Duno, M., Feb 2017, In : Brain : a journal of neurology. 140, 2, p. e8

    Research output: Contribution to journalComment/debateResearchpeer-review

  29. Published

    Prevalence of SHOX Haploinsufficiency among Short Statured Children

    Marstrand-Joergensen, M. R., Beck Jensen, R., Aksglaede, L., Dunoe, M. & Juul, A., 2017, In : Pediatric Research. 81, 2, p. 335-341 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published
  31. Published
  32. 2016
  33. Published

    Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2

    Frederiksen, A. L., Duno, M., Johnsen, I. B. G., Nielsen, M. F. & Krøigård, A. B., Oct 2016, In : AACE clinical case reports. 4, 10, p. 972-978 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

    Vissing, J., Barresi, R., Witting, N., Van Ghelue, M., Gammelgaard, L., Bindoff, L. A., Straub, V., Lochmüller, H., Hudson, J., Wahl, C. M., Arnardottir, S., Dahlbom, K., Jonsrud, C. & Duno, M., Aug 2016, In : Brain : a journal of neurology. 139, Pt 8, p. 2154-63 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Open source non-invasive prenatal testing platform and its performance in a public health laboratory

    Johansen, P., Richter, S. R., Balslev-Harder, M., Miltoft, C. B., Tabor, A., Duno, M. & Kjaergaard, S., Jun 2016, In : Prenatal Diagnosis. 36, 6, p. 530-6 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Monozygotic twins presenting with isolated sagittal and bicoronal synostosis, respectively

    Hove, H. D., Dunø, M., Larsen, P. & Kreiborg, S., Apr 2016, In : Clinical Dysmorphology. 25, 2, p. 86-9 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population

    Rosenberg, T., Nørby, S., Schwartz, M., Saillard, J., Magalhães, P. J., Leroy, D., Kann, E. C. & Duno, M., Mar 2016, In : Investigative ophthalmology & visual science. 57, 3, p. 1370-5 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

    Rafiq, J., Duno, M., Østergaard, E., Ravn, K., Vissing, C. R., Wibrand, F. & Vissing, J., 2016, In : JIMD Reports. 25, p. 65-70

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Hearing impairment and renal failure associated with RMND1 mutations

    Ravn, K., Neland, M., Wibrand, F., Duno, M. & Ostergaard, E., 2016, In : American Journal of Medical Genetics. Part A. 170, 1, p. 142-147

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

    Witting, N., Werlauff, U., Duno, M. & Vissing, J., 2016, In : Muscle & Nerve. 53, 3, p. 388–393

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published
  42. Published

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

    Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M., Jouvencel, P., Burlina, A., Stangoni, G., Bertini, E., Redonnet-Vernhet, I., Wibrand, F., Dionisi-Vici, C., Uusimaa, J., Vieira, P., Osorio, A. N., McFarland, R., Taylor, R. W., Holme, E. & Ostergaard, E., 2016, In : Journal of Inherited Metabolic Disease. 39, 2, p. 243-52

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. 2015
  44. Published

    The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

    Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibaek, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., Striano, P., Zara, F., Kleiss, R., Simpson, M., Muhle, H., Nikanorova, M., Jepsen, B., Tommerup, N., Stephani, U., Guerrini, R., Duno, M., Hjalgrim, H., Pal, D., Helbig, I., Møller, R. S. & MAE working group of the EuroEPINOMICS RES Consortium, 5 Nov 2015, In : Epilepsia. 56, 12, p. e203-e208

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    GeneRewievs - Myotonia Congenita

    Dunø, M. & Colding-Jørgensen, E., 6 Aug 2015

    Research output: Other contributionNet publication - Internet publicationCommunication

  46. Published
  47. Published

    Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark

    Schönewolf-Greulich, B., Dunø, M., Ravn, K., Brøndum-Nielsen, K. & Bisgaard, A-M., 29 Jun 2015, In : Ugeskrift for Laeger. 177, 27, p. V12140731

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

    Rasmussen, J., Lund, A. M., Risom, L., Wibrand, F., Gislason, H., Wendelboe Nielsen, O., Køber, L. & Dunø, M., 22 May 2015, In : Molecular Genetics and Metabolism Reports. 1, p. 241-248

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy

    Dali, C. I., Barton, N. W., Farah, M. H., Moldovan, M., Månsson, J-E., Nair, N., Dunø, M., Risom, L., Cao, H., Pan, L., Sellos-Moura, M., Corse, A. M. & Krarup, C., May 2015, In : Annals of Clinical and Translational Neurology. 2, 5, p. 518-33 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

    Semplicini, C., Vissing, J., Dahlqvist, J. R., Stojkovic, T., Bello, L., Witting, N., Duno, M., Leturcq, F., Bertolin, C., D'Ambrosio, P., Eymard, B., Angelini, C., Politano, L., Laforêt, P. & Pegoraro, E., 28 Apr 2015, In : Neurology. 84, 17, p. 1772-81 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    Mitochondrial dysfunction and risk of cancer

    Lund, M., Melbye, M., Diaz, L. J., Duno, M., Wohlfahrt, J. & Vissing, J., 17 Mar 2015, In : B J C. 112, 6, p. 1134-40 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

    Aksglaede, L., Christensen, M., Olesen, J. H., Duno, M., Olsen, R. K. J., Andresen, B. S., Hougaard, D. M. & Lund, A. M., 13 Mar 2015, In : JIMD Reports. 23, p. 67-70

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    LAMA2-related myopathy; frequency among congenital and limb-girdle muscular dystrophies

    Løkken, N., Born, A. P., Duno, M. & Vissing, J., 5 Feb 2015, In : Muscle & Nerve. p. 547-553

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

    Ostergaard, E., Weraarpachai, W., Ravn, K., Born, A. P., Jønson, L., Duno, M., Wibrand, F., Shoubridge, E. A. & Vissing, J., 20 Jan 2015, In : Journal of Medical Genetics. 52, 3, p. 203-07

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient

    Witting, N., Crone, C., Duno, M. & Vissing, J., 15 Jan 2015, In : Clinical Neurology and Neurosurgery. 130C, p. 168-170 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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