Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor


  1. 2016
  2. Published

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

    Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. D., 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., Østergaard, Elsebet, Vanderver, A., Goldstein, A., Vogt, J., Taylor, R. W. & McFarland, R., Nov 2016, In : Journal of Medical Genetics. 53, 11, p. 768-775

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 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., Østergaard, Elsebet, 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

  4. Published

    Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

    Kusk, M. S., Damgaard, B., Risom, L., Hansen, B. & Østergaard, Elsebet, Oct 2016, In : Neuropediatrics. 47, 5, p. 332-335 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 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. & Østergaard, Elsebet, Mar 2016, In : Journal of Inherited Metabolic Disease. 39, 2, p. 243-52 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Hearing impairment and renal failure associated with RMND1 mutations

    Ravn, K., Neland, M., Wibrand, F., Duno, M. & Østergaard, Elsebet, Jan 2016, In : American Journal of Medical Genetics. Part A. 170, 1, p. 142-147 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

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

    Rafiq, J., Duno, M., Østergaard, Elsebet, Ravn, K., Vissing, C. R., Wibrand, F. & Vissing, John, 2016, JIMD Reports. Springer, Vol. 25. p. 65-70 (JIMD Reports).

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

  8. Published

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

    Grønborg, S., Darin, N., Miranda, Maria J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, Elsebet, 2016, JIMD Reports. Vol. 33. p. 69-77 9 p. (JIMD Reports).

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

ID: 33970574