Signe Mosegaard

  1. 2020
  2. Published

    Riboflavin deficiency—implications for general human health and inborn errors of metabolism. / Mosegaard, Signe; Dipace, Graziana; Bross, Peter; Carlsen, Jasper; Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

    In: International Journal of Molecular Sciences, Vol. 21, No. 11, 3847, 06.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  3. 2019
  4. Published

    Challenging transitions. / Wasalathanthri, Niluka D.; Zaidi, Syed Shan E.Ali; Mahrt, Elena; Srivastava, Sudhakar; Yu, Kun Hsing; Johansson, Karin S.L.; Li, Fengbo; Jimenez, Maria Fernanda Torres; Lo, Cody; Allareddy, Veerasathpurush; Romero-Molina, Carmen; Mosegaard, Signe; Heaton, Steven M.; Park, Jonathan Joon Young; Bacon, Christine D.; Yu, Sha; Polat, Emre Ozan; Wasalathanthri, Dhanuka; Wang, Wei; Agarwal, Divyansh.

    In: Science, Vol. 363, No. 6422, 2019, p. 24-26.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperLetterResearchpeer-review

  5. Published

    FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. / Muru, Kai; Reinson, Karit; Künnapas, Kadi; Lilleväli, Hardo; Nochi, Zahra; Mosegaard, Signe; Pajusalu, Sander; Olsen, Rikke K.J.; Õunap, Katrin.

    In: Molecular Genetics and Genomic Medicine, Vol. 7, No. 9, e915, 2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  6. 2018
  7. Published

    FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts. / García-Villoria, Judit; De Azua, Begoña; Tort, Frederic; Mosegaard, Signe; Ugarteburu, Olatz; Texidó, Laura; Morales-Romero, Blai; Olsen, Rikke K J; Ribes, Antonia.

    In: Clinical Genetics, Vol. 94, No. 6, 12.2018, p. 592-593.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debateResearchpeer-review

  8. 2017
  9. Published

    An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. / Mosegaard, Signe; Bruun, Gitte Hoffmann; Flyvbjerg, Karen Freund; Bliksrud, Yngve Thomas; Gregersen, Niels; Dembic, Maja; Annexstad, Ellen; Tangeraas, Trine; Olsen, Rikke Katrine Jentoft; Andresen, Brage S.

    In: Molecular Genetics and Metabolism, Vol. 122, No. 4, 12.2017, p. 182-188.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  10. Published

    Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy. / Auranen, M.; Paetau, A.; Piirila, P.; Pohju, A.; Salmi, T.; Lamminen, A.; Lofberg, M.; Mosegaard, S.; Olsen, R. K.; Tyni, T.

    In: Neuromuscular Disorders, Vol. 27, No. 6, 06.2017, p. 581-584.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  11. 2016
  12. Published

    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. / Olsen, Rikke K J; Koňaříková, Eliška; Giancaspero, Teresa A; Mosegaard, Signe; Boczonadi, Veronika; Mataković, Lavinija; Veauville-Merllié, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez-Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey-Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Feichtinger, René G; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazzà, Daniela; Zollino, Marcella; Ghezzi, Daniele; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M; Gregersen, Niels; Mayr, Johannes A; Horvath, Rita; Barile, Maria; Prokisch, Holger.

    In: American Journal of Human Genetics, Vol. 98, No. 6, 02.06.2016, p. 1130-45.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  13. 2013
  14. Published

    Locus heterogeneity in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. / Mosegaard, Signe; Olpin, SE; Sharrard, MJ; Manning, NJ; Boneh, A.; Ryan, K.; Andreasen, Charlotte; Kjeldsen, Margrethe; Gregersen, Niels; Olsen, Rikke.

    2013. Poster session presented at 12th International congress of inborn errors of metabolism, Barcelona, Spain.

    Research output: Contribution to conferencePosterCommunication