Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor


  1. 2016
  2. Published

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 : phenotype and genotype correlations in 71 patients. / Carrozzo, Rosalba; Verrigni, Daniela; Rasmussen, Magnhild; de Coo, Rene; Amartino, Hernan; Bianchi, Marzia; Buhas, Daniela; Mesli, Samir; Naess, Karin; Born, Alfred Peter; Woldseth, Berit; Prontera, Paolo; Batbayli, Mustafa; Ravn, Kirstine; Joensen, Fróði; Cordelli, Duccio M; Santorelli, Filippo Maria; Tulinius, Mar; Darin, Niklas; Duno, Morten; Jouvencel, Philippe; Burlina, Alberto; Stangoni, Gabriela; Bertini, Enrico; Redonnet-Vernhet, Isabelle; Wibrand, Flemming; Dionisi-Vici, Carlo; Uusimaa, Johanna; Vieira, Paivi; Osorio, Andrés Nascimento; McFarland, Robert; Taylor, Robert W; Holme, Elisabeth; Ostergaard, Elsebet.

    In: Journal of Inherited Metabolic Disease, Vol. 39, No. 2, 03.2016, p. 243-52.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations : Further Cases and Implications for Genetic Counselling. / Grønborg, Sabine; Darin, Niklas; Miranda, Maria J; Damgaard, Bodil; Cayuela, Jorge Asin; Oldfors, Anders; Kollberg, Gittan; Hansen, Thomas V O; Ravn, Kirstine; Wibrand, Flemming; Østergaard, Elsebet.

    JIMD Reports. Vol. 33 2016. p. 69-77 (JIMD Reports).

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

  4. Published

    Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations. / Kacso, Gergely; Ravasz, Dora; Doczi, Judit; Németh, Beáta; Madgar, Ory; Saada, Ann; Ilin, Polina; Miller, Chaya; Ostergaard, Elsebet; Iordanov, Iordan; Adams, Daniel; Vargedo, Zsuzsanna; Araki, Masatake; Araki, Kimi; Nakahara, Mai; Ito, Haruka; Gál, Aniko; Molnár, Mária J; Nagy, Zsolt; Patocs, Attila; Adam-Vizi, Vera; Chinopoulos, Christos.

    In: Biochemical Journal, Vol. 473, No. 20, 15.10.2016, p. 3463-3485.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Hypomyelinating Leukodystrophy due to HSPD1 Mutations : A New Patient. / Kusk, Maria Schioldan; Damgaard, Bodil; Risom, Lotte; Hansen, Bente; Ostergaard, Elsebet.

    In: Neuropediatrics, Vol. 47, No. 5, 10.2016, p. 332-335.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. / Ng, Yi Shiau; Alston, Charlotte L; Diodato, Daria; Morris, Andrew D; Ulrick, Nicole; Kmoch, Stanislav; Houštěk, Josef; Martinelli, Diego; Haghighi, Alireza; Atiq, Mehnaz; Gamero, Montserrat Anton; Garcia-Martinez, Elena; Kratochvílová, Hana; Santra, Saikat; Brown, Ruth M; Brown, Garry K; Ragge, Nicola; Monavari, Ahmad; Pysden, Karen; Ravn, Kirstine; Casey, Jillian P; Khan, Arif; Chakrapani, Anupam; Vassallo, Grace; Simons, Cas; McKeever, Karl; O'Sullivan, Siobhan; Childs, Anne-Marie; Østergaard, Elsebet; Vanderver, Adeline; Goldstein, Amy; Vogt, Julie; Taylor, Robert W; McFarland, Robert.

    In: Journal of Medical Genetics, Vol. 53, No. 11, 11.2016, p. 768-775.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation. / Rafiq, Jabin; Duno, Morten; Østergaard, Elsebet; Ravn, Kirstine; Vissing, Christoffer R; Wibrand, Flemming; Vissing, John.

    JIMD Reports. Vol. 25 Springer, 2016. p. 65-70 (JIMD Reports).

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

  8. Published

    Hearing impairment and renal failure associated with RMND1 mutations. / Ravn, Kirstine; Neland, Mette; Wibrand, Flemming; Duno, Morten; Ostergaard, Elsebet.

    In: American Journal of Medical Genetics. Part A, Vol. 170, No. 1, 01.2016, p. 142-147.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 33970574