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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2021
  2. Published

    Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children

    Hoei-Hansen, C. E., Tygesen, M. L. B., Dunø, M., Vissing, J., Ballegaard, M. & Born, A. P., Dec 2021, In: Neuropediatrics. 52, 6, p. 462-468 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

    Lundquist, A. A., Farholt, S., Børresen, M. L., Dunø, M., Wibrand, F., Witting, N. & Østergaard, E., Oct 2021, In: European Journal of Medical Genetics. 64, 10, p. 104306 104306.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published
  5. Published

    Myopathy can be a key phenotype of membrin (GOSR2) deficiency

    Stemmerik, M. G., Borch, J. D. S., Dunø, M., Krag, T. & Vissing, J., Sep 2021, In: Human Mutation. 42, 9, p. 1101-1106 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

    Lund, A. M., Wibrand, F., Skogstrand, K., Bækvad-Hansen, M., Gregersen, N., Andresen, B. S., Hougaard, D. M., Dunø, M. & Olsen, R. K. J., Sep 2021, In: International Journal of Neonatal Screening. 7, 3, 50.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

    Solheim, T. Å., Fornander, F., Raja, A. A., Møgelvang, R., Poulsen, N. S., Dunø, M., Bundgaard, H. & Vissing, J., 27 Jul 2021, In: Frontiers in Neurology. 12, p. 707838 707838.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. E-pub ahead of print

    Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark

    Hepp, N., Frederiksen, A. L., Duno, M., Præst Holm, J., Rye Jørgensen, N. & Beck Jensen, J-E., 28 Jun 2021, (E-pub ahead of print) In: Bone Reports. 15, 101101.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Facial Asymmetry in Nonsyndromic and Muenke Syndrome-Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans

    Öwall, L., Darvann, T. A., Hove, H. B., Heliövaara, A., Dunø, M., Kreiborg, S. & Hermann, N. V., Jun 2021, In: Cleft Palate-Craniofacial Journal. 58, 6, p. 687-696 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

    Kessel, L., Kjer, B., Lei, U., Duno, M. & Grønskov, K., Jun 2021, In: Ophthalmic Genetics. 42, 3, p. 230-238 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2020
  12. Published
  13. Published

    Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues

    Jeppesen, T. D., Duno, M. & Vissing, J., 2 Oct 2020, In: Frontiers in genetics. 11, p. 547638

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

    Holm-Yildiz, S., Krag, T., Witting, N., Duno, M., Soerensen, T. & Vissing, J., 1 Oct 2020, In: Journal of Neuropathology and Experimental Neurology. 79, 10, p. 1127-1129 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Successful treatment with dupilumab of an adult with Netherton syndrome

    Andreasen, T. H., Karstensen, H. G., Duno, M., Lei, U., Zachariae, C. & Thyssen, J. P., Oct 2020, In: Clinical and Experimental Dermatology. 45, 7, p. 915-917 3 p.

    Research output: Contribution to journalLetterResearchpeer-review

  16. Published

    A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

    Vissing, J., Dahlqvist, J. R., Roudaut, C., Poupiot, J., Richard, I., Duno, M. & Krag, T., Sep 2020, In: Human Mutation. 41, 9, p. 1507-1513 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published
  18. Published

    Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

    Hildonen, M., Knak, K. L., Dunø, M., Vissing, J. & Tümer, Z., 13 Aug 2020, In: Genes. 11, 8, p. 936

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Permanent muscle weakness in hypokalemic periodic paralysis

    Holm-Yildiz, S., Witting, N., Dahlqvist, J., de Stricker Borch, J., Solheim, T., Fornander, F., Eisum, A-S., Duno, M., Soerensen, T. & Vissing, J., 28 Jul 2020, In: Neurology. 95, 4, p. e342-e352

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

    Rosengren, T., Nanhoe, S., de Almeida, L. G. D., Schönewolf-Greulich, B., Larsen, L. J., Hey, C. A. B., Dunø, M., Ek, J., Risom, L., Nellist, M. & Møller, L. B., 18 Jun 2020, In: Scientific Reports. 10, 1, p. 9909 9909.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

    Bayat, A., Dunø, M., Kirchhoff, M., Jørgensen, F. S., Nishimura, G. & Hove, H. B., Jun 2020, In: Molecular Syndromology. 11, 2, p. 83-89 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Hjortshøj, T. D., Sørensen, A. R., Yusibova, M., Hansen, B. M., Dunø, M., Balslev-Harder, M., Grønskov, K., van Hagen, J. M., Polstra, A. M., Eggermann, T., Finken, M. J. J. & Tümer, Z., Jun 2020, In: Clinical Genetics. 97, 6, p. 902-907 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    First case of cystic fibrosis in Greenland - diagnosed by neonatal screening

    M, S., A, K. & M, D., May 2020, In: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 19, 3, p. e14-e15

    Research output: Contribution to journalLetterResearchpeer-review

  24. Published

    Increased risk of sudden death in untreated Primary Carnitine Deficiency

    Rasmussen, J., Dunø, M., Lund, A. M., Steuerwald, U., Hansen, S-H., Joensen, H. D., Køber, L. & Nielsen, O. W., Mar 2020, In: Journal of Inherited Metabolic Disease. 43, 2, p. 290-296 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

    Skov, M., Baekvad-Hansen, M., Hougaard, D. M., Skogstrand, K., Lund, A. M., Pressler, T., Olesen, H. V. & Duno, M., Feb 2020, In: Pediatric Pulmonology. 55, 2, p. 549-555 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Danish expanded newborn screening is a successful preventive public health programme

    Lund, A., Wibrand, F., Skogstrand, K., Cohen, A., Christensen, M., Jäpelt, R. B., Dunø, M., Skovby, F., Nørgaard-Pedersen, B., Gregersen, N., Andresen, B. S., Olsen, R. K. J. & Hougaard, D., Jan 2020, In: Danish Medical Journal. 67, 1

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published
  28. Published

    Phenotypic variability in Muenke syndrome-observations from five Danish families

    Öwall, L., Kreiborg, S., Dunø, M., Hermann, N. V., Darvann, T. A. & Hove, H., 2020, In: Coronary Artery Disease. 29, 1, p. 1-9 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. 2019
  30. Published

    Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy

    Vissing, C. R., Dunø, M., Wibrand, F., Christensen, M. & Vissing, J., 1 Dec 2019, In: The Journal of clinical endocrinology and metabolism. 104, 12, p. 5968-5976 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    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., Hove, H. B., Vedtofte, P., Hindsø, K. & Jensen, J-E. B., Dec 2019, In: Calcified Tissue International. 105, 6, p. 681-686 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

    Vissing, J., Johnson, K., Töpf, A., Nafissi, S., Díaz-Manera, J., French, V. M., Schindler, R. F., Sarathchandra, P., Løkken, N., Rinné, S., Freund, M., Decher, N., Müller, T., Duno, M., Krag, T., Brand, T. & Straub, V., Dec 2019, In: Annals of Neurology. 86, 6, p. 832-843

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report

    Nersesjan, V., Hansen, K., Krag, T., Duno, M. & Jeppesen, T. D., 22 Oct 2019, In: BMC Neurology. 19, 1, p. 247 247.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published
  35. Published

    Præimplantationsgenetisk testning for aneuploidi

    Holmqvist, V., Roos, L. K. S., Kjartansdottir, K. R., Dunø, M., Petersen, M. R., Hnida, C., Pedersen, I. S., Ernst, A., Toft, C. L. F., Diemer, T., Ingerslev, H. J., Pinborg, A. & Løssl, K., 13 May 2019, In: Ugeskrift for Laeger. 181, 20

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle

    Fritzen, A. M., Thøgersen, F. B., Thybo, K., Vissing, C. R., Krag, T. O., Ruiz-Ruiz, C., Risom, L., Wibrand, F., Høeg, L. D., Kiens, B., Duno, M., Vissing, J. & Jeppesen, T. D., 12 Mar 2019, In: Cells. 8, 3, p. 237 253 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Genotype and phenotype classification of 29 patients affected by Krabbe disease

    Madsen, A. M. H., Wibrand, F., Lund, A. M., Ek, J., Dunø, M. & Østergaard, E., Mar 2019, In: JIMD Reports. 46, 1, p. 35-45 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 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., Jan 2019, In: European Journal of Medical Genetics. 62, 1, p. 1-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. 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 10 p.

    Research output: Contribution to journalReviewResearchpeer-review

  40. Published

    Including classical galactosaemia in the expanded newborn screening panel using tandem mass spectrometry for galactose-1-phosphate

    Cohen, A. S., Baurek, M., Lund, A. M., Dunø, M. & Hougaard, D. M., 2019, In: International Journal of Neonatal Screening. 5, 2, 19.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. 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 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. 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

  43. 2018
  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

  51. 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

  52. 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

  53. 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

  54. 2017
  55. 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

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