Publikationer

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  1. Dessein A-F, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié M-C, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J. 2017. Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants. Clinica chimica acta; international journal of clinical chemistry. 471:101-106. Tilgængelig fra: 10.1016/j.cca.2017.05.026
  2. Stagsted J, ZHOU J, Jessen R, Palmfeldt J, Torngaard Hansen E, Opfindere. 22-06-2017. Dietary peptides. Patentnummer WO2017103200 A1.
  3. Fogh S, Olsen RKJ, Gregersen N, Aagaard L. 2016. Investigation of the disease mechanisms of Short-Chain Acyl-CoA Dehydrogenase deficiency by biallelic knockout using CRISPR/Cas9. Poster session presented at CRISPR genome editing: From high-throughput screening to disease models, Copenhagen, Danmark.
  4. Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. 2016. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. American Journal of Human Genetics. 98(6):1130-45. Tilgængelig fra: 10.1016/j.ajhg.2016.04.006
  5. Bross P 2015. The Hsp60 Chaperonin. Springer International Publishing Switzerland. (SpringerBriefs in Molecular Science).
  6. Fentz J, Kjøbsted R, Birk JB, Jordy AB, Jeppesen J, Thorsen K, Schjerling P, Kiens B, Jessen N, Viollet B, Wojtaszewski JFP. 2015. AMPKα is critical for enhancing skeletal muscle fatty acid utilization during in vivo exercise in mice. F A S E B Journal. 29(5):1725-1738. Tilgængelig fra: 10.1096/fj.14-266650
  7. Joshi S, Andersen RF, Jespersen B, Kjeldsen M, Olsen RKJ, Rittig S. 2015. High-resolution melting analysis to study gene variations in Nephrotic Syndrome. Poster session presented at 12th International Symposium on Mutation in the Genome, Lake Louise, Canada.
  8. Joshi S, Gregersen N, Christensen JH, Rittig S, Brandstrom P. 2015. Novel de novo AVPR2 mutation causing CNDI in Swedish patient. Poster session presented at 12th International Conference on human genetics, Montreal, Canada.
  9. Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. 2015. CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria. American Journal of Human Genetics. 96(2):258-65. Tilgængelig fra: 10.1016/j.ajhg.2014.12.020
  10. Wang Y, Palmfeldt J, Gregersen N, Vockley J. 2015. Characterizing the Molecular Architecture of Mitochondrial Energy Metabolism. Poster session presented at Society for the Study of Inborn Errors of Metabolism: SSIEM, 2015, .
  11. Al-Saaidi RA, Rasmussen TB, Palmfeldt J, Hansen J, Bross P. 2014. THE MISSENSE MUTATION P.ARG471HIS CAUSES DILATED CARDIOMYOPATHY THROUGH A DOMINANT NEGATIVE EFFECT. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Danmark.
  12. Al-Saaidi RA. 2014. Do lamin A and lamin C have unique roles?. Poster session presented at Gordon Research Conference , West Dover, USA.
  13. Bie AS, Bross P, Corydon TJ. 2014. THE HSP60 SUBSTRATE SPECTRUM. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Danmark.
  14. Bie AS, Bross P. 2014. Substrates of the mitochondrial chaperonin Hsp60. Poster session presented at Euromit 2014, Tampere, Finland.