Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor


  1. 2018
  2. Published

    A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. / Barington, Maria; Risom, Lotte; Ek, Jakob; Uldall, Peter; Ostergaard, Elsebet.

    In: European Journal of Human Genetics, Vol. 26, No. 9, 2018, p. 1388-1391.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course. / Grønborg, Sabine; Risom, Lotte; Ek, Jakob; Larsen, Karen Bonde; Scheie, David; Petkov, Yanko; Larsen, Vibeke André; Dunø, Morten; Joensen, Fróði; Østergaard, Elsebet.

    In: European Journal of Human Genetics, Vol. 26, No. 10, 2018, p. 1512-1520.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? / Repp, Birgit M; Mastantuono, Elisa; Alston, Charlotte L; Schiff, Manuel; Haack, Tobias B; Rötig, Agnes; Ardissone, Anna; Lombès, Anne; Catarino, Claudia B; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J M; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F M; Moroni, Isabella; Smet, Joél; Mayr, Johannes A; Dai, Lifang; de Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia.

    In: Orphanet Journal of Rare Diseases, Vol. 13, 120, 2018.

    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, Kalliopi; de Coo, Irenaeus F M; Østergaard, Elsebet; Isohanni, Pirjo; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; Lönnqvist, Tuula; Bindoff, Laurence Albert; Tulinius, Már; Darin, Niklas.

    In: Journal of Medical Genetics, Vol. 55, No. 1, 2018, p. 21-27.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2017
  7. Published

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. / Pronicka, Ewa; Ropacka-Lesiak, Mariola; Trubicka, Joanna; Pajdowska, Magdalena; Linke, Markus; Ostergaard, Elsebet; Saunders, Carol; Horsch, Sandra; van Karnebeek, Clara; Yaplito-Lee, Joy; Distelmaier, Felix; Õunap, Katrin; Rahman, Shamima; Castelle, Martin; Kelleher, John; Baris, Safa; Iwanicka-Pronicka, Katarzyna; Steward, Colin G; Ciara, Elżbieta; Wortmann, Saskia B; Additional individual contributors.

    In: Journal of Inherited Metabolic Disease, Vol. 40, No. 6, 11.2017, p. 853-860.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Diagnostisk exomsekventering til udredning af syndromer. / Østergaard, Elsebet; Risom, Lotte; Ek, Jakob; Grønborg, Sabine; Dunø, Morten; Skovby, Flemming.

    In: Ugeskrift for Læger, Vol. 179, V10160762, 2017.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2016
  10. 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

  11. 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

  12. 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

  13. 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

Previous 1 2 3 Next

ID: 33970574