Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2018
  2. 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

  3. Published
  4. Published

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D., Wenhong, D., Lamantea, E., Ostergaard, E., Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M-C., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Häberle, J., Vockley, J., Prokisch, H. & Wortmann, S., 19 Jul 2018, In : Orphanet Journal of Rare Diseases. 13, 1, p. 120

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

    Sofou, K., de Coo, I. F. M., Ostergaard, E., Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lönnqvist, T., Bindoff, L. A., Tulinius, M. & Darin, N., Jan 2018, In : Journal of Medical Genetics. 55, 1, p. 21-27 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2017
  7. Published
  8. Published

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

    Pronicka, E., Ropacka-Lesiak, M., Trubicka, J., Pajdowska, M., Linke, M., Ostergaard, E., Saunders, C., Horsch, S., van Karnebeek, C., Yaplito-Lee, J., Distelmaier, F., Õunap, K., Rahman, S., Castelle, M., Kelleher, J., Baris, S., Iwanicka-Pronicka, K., Steward, C. G., Ciara, E., Wortmann, S. B. & Additional individual contributors, Nov 2017, In : Journal of Inherited Metabolic Disease. 40, 6, p. 853-860 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 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

  10. Published

    Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

    Grønborg, S., Darin, N., Miranda, M. J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, E., 2017, In : JIMD Reports. 33, p. 69-77

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2016
  12. Published

    Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations

    Kacso, G., Ravasz, D., Doczi, J., Németh, B., Madgar, O., Saada, A., Ilin, P., Miller, C., Ostergaard, E., Iordanov, I., Adams, D., Vargedo, Z., Araki, M., Araki, K., Nakahara, M., Ito, H., Gál, A., Molnár, M. J., Nagy, Z., Patocs, A., Adam-Vizi, V. & Chinopoulos, C., 15 Oct 2016, In : Biochemical Journal. 473, 20, p. 3463-3485 23 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. A., Ulrick, N., Kmoch, S., Houštěk, J., Martinelli, D., Haghighi, A., Atiq, M., Gamero, M. A., Garcia-Martinez, E., Kratochvílová, H., Santra, S., Brown, R. M., Brown, G. K., Ragge, N., Monavari, A., Pysden, K., Ravn, K., Casey, J. P., Khan, A., Chakrapani, A., Vassallo, G., Simons, C., McKeever, K., O'Sullivan, S., Childs, A-M., Østergaard, E., Vanderver, A., Goldstein, A., Vogt, J., Taylor, R. W. & McFarland, R., 13 Jul 2016, In : Journal of Medical Genetics. 53, p. 768-775

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

    Schioldan Kusk, M., Damgaard, B., Risom, L., Hansen, B. & Ostergaard, E., 12 Jul 2016, In : Neuropediatrics. 47, 5, p. 332-5

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 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

  16. 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

  17. 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

  18. 2015
  19. Published

    An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

    Hinttala, R., Sasarman, F., Nishimura, T., Antonicka, H., Brunel-Guitton, C., Schwartzentruber, J., Fahiminiya, S., Majewski, J., Faubert, D., Ostergaard, E., Smeitink, J. A. & Shoubridge, E. A., 15 Jul 2015, In : Human Molecular Genetics. 24, 14, p. 4103-13 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

    Saunders, C., Smith, L., Wibrand, F., Ravn, K., Bross, P., Thiffault, I., Christensen, M., Atherton, A., Farrow, E., Miller, N., Kingsmore, S. F. & Ostergaard, E., 5 Feb 2015, In : American Journal of Human Genetics. 96, 2, p. 258-65 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 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

  22. Published
  23. Published

    Exclusive neuronal expression of SUCLA2 in the human brain

    Dobolyi, A., Ostergaard, E., Bagó, A. G., Dóczi, T., Palkovits, M., Gál, A., Molnár, M. J., Adam-Vizi, V. & Chinopoulos, C., 2015, In : Brain structure & function. 220, 1, p. 135-51

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

    Ravn, K., Schönewolf-Greulich, B., Hansen, R. M., Bohr, A-H., Dunø, M., Wibrand, F. & Østergaard, E., 2015, In : Molecular Genetics and Metabolism Reports. 3, p. 5-10

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. 2014
  26. Published

    Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

    Valencia, M., Caparrós-Martin, J. A., Sirerol-Piquer, M. S., García-Verdugo, J. M., Martínez-Glez, V., Lapunzina, P., Temtamy, S., Aglan, M., Lund, A. M., Nikkels, P. G. J., Ruiz-Perez, V. L. & Ostergaard, E., May 2014, In : American Journal of Medical Genetics. Part A. 164A, 5, p. 1143-50 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    A multicenter study on Leigh syndrome: disease course and predictors of survival

    Sofou, K., De Coo, I. F. M., Isohanni, P., Ostergaard, E., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., De Angst, I. B., Lönnqvist, T., Pihko, H., Mankinen, K., Bindoff, L. A., Tulinius, M. & Darin, N., 2014, In : Orphanet Journal of Rare Diseases. 9, p. 52

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

    Nouws, J., Wibrand, F., van den Brand, M., Venselaar, H., Duno, M., Lund, A. M., Trautner, S., Nijtmans, L. & Østergaard, E., 2014, In : JIMD Reports. 12, p. 37-45 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published
  30. 2013
  31. Published

    A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

    Unal, O., Orhan, D., Ostergaard, E., Tokatli, A., Dursun, A., Ozturk-Hismi, B., Coskun, T., Wibrand, F. & Kalkanoglu-Sivri, H. S., 2013, In : Journal of Child Neurology. 28, 11, p. 1505-08

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Mutations in C10orf11, Encoding a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

    Grønskov, K., Dooley, C. M., Ostergaard, E., Kelsh, R. N., Hansen, L., Levesque, M. P., Vilhelmsen, K., Møllgård, K., Stemple, D. L. & Rosenberg, T., 2013, In : American Journal of Human Genetics. 92, 3, p. 415-421

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. 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

  34. 2012
  35. Published

    A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands

    Ostergaard, E., Joensen, F., Sundberg, K., Duno, M., Hansen, F. J., Batbayli, M., Sørensen, N. & Born, A. P., 2012, In : Acta paediatrica. 101, 11, p. e509-13

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Arvegange, monogene sygdomme og mitokondriesygdomme

    Østergaard, E. & Nørby, S., 2012, Medicinsk genetik. Nørby, S. & Jensen, P. K. A. (eds.). 2 ed. FADL's Forlag, p. 105-126

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  37. Published

    Genetisk variation

    Østergaard, E. & Nørby, S., 2012, Medicinsk genetik. Nørby, S. & Jensen, P. K. A. (eds.). 2 ed. København: FADL's Forlag, p. 65-82

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  38. Published

    Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

    Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J. & Smeitink, J. A. M., 2012, In : Journal of Inherited Metabolic Disease. 35, 5, p. 737-47 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. 2011
  40. Published

    A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases

    Ostergaard, E., Duno, M., Batbayli, M., Vilhelmsen, K. & Rosenberg, T., 2011, In : Molecular Vision. 17, p. 1485-92 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease

    Gal, A., Rau, I., El Matri, L., Kreienkamp, H-J., Fehr, S., Baklouti, K., Chouchane, I., Li, Y., Rehbein, M., Fuchs, J., Fledelius, H. C., Vilhelmsen, K., Schorderet, D. F., Munier, F. L., Ostergaard, E., Thompson, D. A. & Rosenberg, T., 2011, In : American Journal of Human Genetics. 88, 3, p. 382-90 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

    Ostergaard, E., Rodenburg, R. J., van den Brand, M., Thomsen, L. L., Duno, M., Batbayli, M., Wibrand, F. & Nijtmans, L., 2011, In : Journal of Medical Genetics. 48, 11, p. 737-40 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion

    Miller, C., Wang, L., Ostergaard, E., Dan, P. & Saada, A., 2011, In : Biochimica et Biophysica Acta. 1812, 5, p. 625-9 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. 2010
  45. Published

    Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

    Østergaard, E., Batbayli, M., Dunø, M., Vilhelmsen, K. & Rosenberg, T., 1 Oct 2010, In : Journal of Medical Genetics. 47, 10, p. 665-9 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

    Rouzier, C., Le Guédard-Méreuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S., Chaussenot, A., Bannwarth, S., Caruba, C., Østergaard, E., Pellissier, J-F., Richelme, C., Espil, C., Chabrol, B. & Paquis-Flucklinger, V., 1 Oct 2010, In : Journal of Medical Genetics. 47, 10, p. 670-6 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

    Antonicka, H., Østergaard, E., Sasarman, F., Weraarpachai, W., Wibrand, F., Pedersen, A. M. B., Rodenburg, R. J., van der Knaap, M. S., Smeitink, J. A. M., Chrzanowska-Lightowlers, Z. M. & Shoubridge, E. A., 9 Jul 2010, In : American Journal of Human Genetics. 87, 1, p. 115-22 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

    Østergaard, E., Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G. & Holme, E., 1 Feb 2010, In : European Journal of Pediatrics. 169, 2, p. 201-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. 2005
  50. Published

    Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes

    Duchatelet, S., Ostergaard, E., Cortes, D., Lemainque, A. & Julier, C., 1 Jan 2005, In : Human Molecular Genetics. 14, 1, p. 1-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 31001050