Niels Gregersen

  1. 2019
  2. Published

    Myalgisk encefalomyelitis eller kronisk træthedssyndrom. / Brinth, Louise; Nielsen, Henrik; Varming, Kim; Boonen, Susanne E; Ebsen, A C Gonzalez; Fernández-Guerra, Paula; Schou, Anne Sophie; Mehlsen, Jesper; Gregersen, Niels; Brandslund, Ivan; Olsen, Rikke Katrine Jentoft.

    In: Ugeskrift for Laeger, Vol. 181, No. 24, 10.06.2019.

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

  3. Published

    Mindfulness, Health, and Longevity. / Dahlgaard, Jesper; Jørgensen, Malene Munk; van der Velden, Anne Maj; Sumbundu , A; Gregersen, Niels; Olsen, Rikke Katrine Jentoft; Mehlsen, Mimi Yung.

    The Science of Hormesis in Health and Longevity. ed. / Suresh I.S. Rattan; Marios Kyriazis. Academic Press, 2019. p. 243-255.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  4. 2018
  5. Published

    Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus. / Joshi, Shivani; Kvistgaard, Helene; Kamperis, Konstantinos; Færch, Mia; Hagstrøm, Søren; Gregersen, Niels; Rittig, Søren; Christensen, Jane Hvarregaard.

    In: European Journal of Pediatrics, Vol. 177, No. 9, 09.2018, p. 1399-1405.

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

  6. Published

    The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants. / Toustrup, Lise Bols; Kvistgaard, Helene; Palmfeldt, Johan; Bjerre, Charlotte Kjaer; Gregersen, Niels; Rittig, Søren; Corydon, Thomas Juhl; Christensen, Jane H.

    In: Neuroendocrinology, Vol. 106, No. 2, 02.2018, p. 167–186.

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

  7. Published

    A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing. / Kvistgaard, Helene; Christensen, Jane H; Johansson, Jan-Ove; Gregersen, Niels; Siggaard Rittig, Charlotte; Rittig, Søren; Corydon, Thomas J.

    In: Neuroendocrinology, Vol. 107, No. 2, 2018, p. 167-180.

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

  8. Published

    Biomarker Discovery by Mass Spectrometry in Cerebrospinal Fluid and Plasma after Global Hypoxia-Ischemia in Newborn Piglets. / Kyng, Kasper Jacobsen; Edhager, Anders Valdemar; Henriksen, Tine Brink; Swan, Christer Zøylner; Gregersen, Niels; Palmfeldt, Johan.

    In: Neonatology, Vol. 114, No. 4, 2018, p. 307-314.

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

  9. 2017
  10. 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

  11. Published

    Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants. / Dessein, Anne-Frédérique; Fontaine, Monique; Joncquel-Chevalier Curt, Marie; Briand, Gilbert; Sechter, Claire; Mention-Mulliez, Karine; Dobbelaere, Dries; Douillard, Claire; Lacour, Arnaud; Redonnet-Vernhet, Isabelle; Lamireau, Delphine; Barth, Magalie; Minot-Myhié, Marie-Christine; Kuster, Alice; de Lonlay, Pascale; Gregersen, Niels; Acquaviva, Cécile; Vianey-Saban, Christine; Vamecq, Joseph.

    In: Clinica chimica acta; international journal of clinical chemistry, Vol. 471, 08.2017, p. 101-106.

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

  12. Published

    Short-chain acyl-CoA dehydrogenase deficiency : from gene to cell pathology and possible disease mechanisms. / Nochi, Zahra; Olsen, Rikke Katrine Jentoft; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, 17.05.2017.

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

  13. Published
  14. Published

    Mitochondrial Spare Respiratory Capacity Is Negatively Correlated With Nuclear Reprogramming Efficiency. / Zhou, Yan; Al-Saaidi, Rasha Abdelkadhem; Guerra, Paula Fernandez; Freude, Kristine Karla; Olsen, Rikke Katrine Jentoft; Jensen, Uffe Birk; Gregersen, Niels; Hyttel, Poul; Bolund, Lars; Aagaard, Lars; Bross, Peter; Luo, Yonglun.

    In: Stem Cells and Development, Vol. 26, No. 3, 02.2017, p. 166-176.

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

  15. Published

    Linking telomere loss and mitochondrial dysfunction in chronic disease. / Gonzalez-Ebsen, Ana Carlota; Gregersen, Niels; Olsen, Rikke Kj.

    In: Frontiers in Bioscience, Vol. 22, 01.01.2017, p. 117-127.

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

  16. Published

    Ketone Body Acetoacetate Buffers Methylglyoxal via a Non-enzymatic Conversion during Diabetic and Dietary Ketosis. / Salomon, Trine; Sibbersen, Christian; Hansen, Jakob; Britz, Dieter H.; Svart, Mads; Voss, Thomas Schmidt; Møller, Niels; Gregersen, Niels; Jørgensen, Karl Anker; Palmfeldt, Johan; Poulsen, Thomas; Johannsen, Mogens.

    In: Cell Chemical Biology, Vol. 24, No. 8, 2017, p. 935-943.

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

  17. Published

    Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus. / Joshi, Shivani; Brandström, Per; Gregersen, Niels; Rittig, Søren; Christensen, Jane Hvarregaard.

    In: Case Reports in Nephrology and Dialysis, Vol. 7, No. 3, 2017.

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

  18. 2016
  19. Published

    Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice. / Wang, Wei; Palmfeldt, Johan; Mohsen, Al Walid; Gregersen, Niels; Vockley, Jerry.

    In: Biochemistry and Biophysics Reports, Vol. 8, 01.12.2016, p. 333-339.

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

  20. Published

    Selected reaction monitoring mass spectrometry for relative quantification of proteins involved in cellular life and death processes. / Birkler, Rune Isak Dupont; Nochi, Zahra; Gregersen, Niels; Palmfeldt, Johan.

    In: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, Vol. 1035, 23.09.2016, p. 49-56.

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

  21. Published

    Investigation of the disease mechanisms of Short-Chain Acyl-CoA Dehydrogenase deficiency by biallelic knockout using CRISPR/Cas9. / Fogh, Sarah; Olsen, Rikke Katrine Jentoft; Gregersen, Niels; Aagaard, Lars.

    2016. Poster session presented at CRISPR genome editing: From high-throughput screening to disease models, Copenhagen, Denmark.

    Research output: Contribution to conferencePosterResearch

  22. 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

  23. Published
  24. Published

    Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency. / Sahebekhtiari, Navid; Thomsen, Michelle M; Sloth, Jens J; Stenbroen, Vibeke; Zeviani, Massimo; Gregersen, Niels; Viscomi, Carlo; Palmfeldt, Johan.

    In: Proteomics, 11.02.2016.

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

  25. Published

    A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome. / Breinbjerg, Anders; Rittig, Charlotte Siggaard; Gregersen, Niels; Rittig, Søren; Christensen, Jane Hvarregaard.

    In: Acta paediatrica (Oslo, Norway : 1992), 2016.

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

  26. 2015
  27. Published

    Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel. / Dollerup, Pia; Thomsen, Troels Møller; Nejsum, Lene N; Færch, Mia; Österbrand, Martin; Gregersen, Niels; Rittig, Søren; Christensen, Jane H; Corydon, Thomas J.

    In: B M C Nephrology, Vol. 16, No. 1, 29.12.2015, p. 217.

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

  28. Published

    Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders. / Fernandez-Guerra, Paula; Lund, Martin; Corydon, T J; Cornelius, Nanna; Gregersen, Niels; Palmfeldt, J; Bross, Peter.

    In: JIMD Reports , 25.09.2015.

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

  29. Published

    A short introduction to acyl-CoA dehydrogenases; deficiencies and novel treatment strategies. / Lund, Martin; Olsen, Rikke Katrine Jentoft; Gregersen, Niels.

    In: Expert Opinion on Orphan Drugs, Vol. 3, No. 12, 24.09.2015, p. 1375-1386.

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

  30. Published

    Novel plasma and CSF biomarkers of hypoxic-ischemic encephalopathy identified by mass spectrometry. / Kyng, Kasper Jacobsen; Edhager, Anders Valdemar; Andreassen, Christer Swan; Henriksen, Tine Brink; Gregersen, Niels; Palmfeldt, Johan.

    2015. Abstract from 1st Congress of joint European Neonatal Societies, Budapest, Hungary.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  31. Published

    Characterizing the Molecular Architecture of Mitochondrial Energy Metabolism. / Wang, Yudong; Palmfeldt, Johan; Gregersen, Niels; Vockley, Jerry.

    2015. Poster session presented at Society for the Study of Inborn Errors of Metabolism: SSIEM, 2015, .

    Research output: Contribution to conferencePosterResearchpeer-review

  32. Published

    Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism. / Olsen, Rikke K J; Cornelius, Nanna; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, 30.05.2015.

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

  33. Published

    CoQ10 as a modulator of mitochondrial dysfunction and maladaptive stress responses in chronic fatigue syndrome. / Søes, Signe; Brinth, Louise ; Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

    Coenzyme Q10: from fact to fiction: Cell Biology Research Progress. Nova Science Publishers, 2015.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  34. Published

    Genetic Variants in NPHS1, NPHS2 and INF2 in Patients with Primary Focal Segmental Glomerulosclerosis in Denmark. / Joshi, Shivani; Andersen, René Frydensbjerg; Jespersen, Bente; Rasmussen, Maria; Madsen, Line Bille; Hansen, Anita; Nagaraj, Subagini; Kjeldsen, Margrethe; Olsen, Rikke Katrine Jentoft; Gregersen, Niels; Rittig, Søren.

    2015. Poster session presented at 10th International Podocyte Conference, Freiburg, Germany.

    Research output: Contribution to conferencePosterResearchpeer-review

  35. Published

    Novel de novo AVPR2 mutation causing CNDI in Swedish patient. / Joshi, Shivani; Gregersen, Niels; Christensen, Jane Hvarregaard; Rittig, Søren; Brandstrom, Per.

    2015. Poster session presented at 12th International Conference on human genetics, Montreal, Canada.

    Research output: Contribution to conferencePosterResearchpeer-review

  36. 2014
  37. Published

    Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease. / Fernández-Guerra, Paula; Birkler, Rune I D; Merinero, Begoña; Ugarte, Magdalena; Gregersen, Niels; Rodríguez-Pombo, Pilar; Bross, Peter; Palmfeldt, Johan.

    In: Molecular Genetics & Genomic Medicine, Vol. 2, No. 5, 09.2014, p. 383-92.

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

  38. Published

    Large-scale proteomics differentiates cholesteatoma from surrounding tissues and identifies novel proteins related to the pathogenesis. / Britze, Anders; Birkler, Rune Isak Dupont; Gregersen, Niels; Ovesen, Therese; Palmfeldt, Johan.

    In: PLOS ONE, Vol. 9, No. 8, 05.08.2014, p. e104103.

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

  39. Published

    Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain : A possible role of mPTP opening as a pathomechanism in these disorders? / Tonin, Anelise Miotti; Amaral, Alexandre Umpierrez; Busanello, Estela Natacha; Gasparotto, Juciano; Gelain, Daniel P; Gregersen, Niels; Wajner, Moacir.

    In: BBA General Subjects, 16.06.2014.

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

  40. Published

    Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts. / Cornelius, Nanna; Corydon, Thomas J; Gregersen, Niels; Olsen, Rikke K J.

    In: Human Molecular Genetics, 15.04.2014.

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

  41. Published

    Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency. / Edhager, Anders V; Stenbroen, Vibeke; Nielsen, Nadia Sukusu; Bross, Peter; Olsen, Rikke K J; Gregersen, Niels; Palmfeldt, Johan.

    In: Molecular Genetics and Metabolism, Vol. 111, No. 3, 24.01.2014, p. 360-368.

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

  42. Published

    44-plex cytokine profile of cholesteatoma. / Britze, Anders; Palmfeldt, Johan; Gregersen, Niels; Ovesen, Therese.

    In: Acta Oto-Laryngologica, Vol. 134, No. 1, 01.2014, p. 41-50.

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

  43. Published

    A cleavable azide resin for direct click chemistry mediated enrichment of alkyne-labeled proteins. / Sibbersen, Christian; Lykke, Lennart; Gregersen, Niels; Jørgensen, Karl Anker; Johannsen, Mogens.

    In: Chemical Communications, Vol. 50, No. 81, 2014, p. 12098-12100.

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

  44. Published

    APPROACHES TO DECIPHERING THE BALANCE BETWEEN SURVIVAL AND DEATH MECHANISMS IN CELLS WITH MITOCHONDRIAL DYSFUNCTION. / Nochi, Zahra; Andreasen, Charlotte; Corydon, Thomas Juhl; Gregersen, Niels.

    2014. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.

    Research output: Contribution to conferencePosterCommunication

  45. Published

    APPROACHES TO DECIPHERING THE BALANCE BETWEEN SURVIVAL AND DEATH MECHANISMS IN CELLS WITH MITOCHONDRIAL DYSFUNCTION. / Nochi, Zahra; Gregersen, Niels.

    2014. Poster session presented at Euromit 2014, Tampere, Finland.

    Research output: Contribution to conferencePosterCommunication

  46. Published

    Characteristics of human infant primary fibroblast cultures from Achilles tendons removed post-mortem. / Rohde, Marianne Cathrine; Corydon, Thomas Juhl; Hansen, Jakob; Pedersen, Christina Bak; Schmidt, Stinne P; Gregersen, Niels; Banner, Jytte.

    In: Forensic Science International, Vol. 234, 2014, p. 149-53.

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

  47. Published

    MITOCHONDRIAL PROTEOME CHANGES IN ETHE1- DEFICIENT MICE: INDICATION OF METABOLIC IMBALANCE. / Sahebekhtiari, Navid; Bross, Peter; Gregersen, Niels; Palmfeldt, Johan.

    2014. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.

    Research output: Contribution to conferencePosterCommunication

  48. Published

    Oxidative stress and mitochondrial defect in neuromuscular disorders: source or symptoms? / Cornelius, Nanna; Gregersen, Niels; Tümer, Zeynep; Olsen, Rikke Katrine Jentoft.

    Oxidative Stress: Causes, Role in Diseases and Biological Effects. Nova Publishers, 2014.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  49. 2013
  50. Published

    Genetic and cellular modifiers of oxidative stress : What can we learn from fatty acid oxidation defects? / Olsen, Rikke Katrine Jentoft; Cornelius, Nanna; Gregersen, Niels.

    In: Molecular Genetics and Metabolism, Vol. 2010, No. supplement, 12.10.2013, p. s31-s39.

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

  51. Published

    Heat stress and sudden infant death syndrome-Stress gene expression after exposure to moderate heat stress. / Rohde, Marianne Cathrine; Corydon, Thomas Juhl; Hansen, Jakob; Pedersen, Christina Bak; Schmidt, Stinne P; Gregersen, Niels; Banner, Jytte.

    In: Forensic Science International, Vol. 232, No. 1-3, 10.10.2013, p. 16-24.

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

  52. Published

    The ETFDH c.158A>G Variation Disrupts the Balanced Binding of ESE and ESS Proteins Causing Missplicing and Multiple acyl-CoA Dehydrogenation Deficiency. / Olsen, Rikke K J; Brøner, Sabrina; Sabaratnam, Rugivan; Doktor, Thomas K; Andersen, Henriette S; Bruun, Gitte H; Gahrn, Birthe; Stenbroen, Vibeke; Olpin, Simon E; Dobbie, Angus; Gregersen, Niels; Andresen, Brage S.

    In: Human Mutation, 07.10.2013.

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

  53. Published

    Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency. / Cornelius, Nanna; Byron, Colleen; Hargreaves, Iain; Guerra, Paula Fernandez; Furdek, Andrea K; Land, John; Radford, Weston W; Frerman, Frank; Corydon, Thomas J; Gregersen, Niels; Olsen, Rikke K J.

    In: Human Molecular Genetics, Vol. 22, No. 19, 01.10.2013, p. 3819-27.

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

  54. 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

  55. Published

    Mass spectrometry analysis of mutant proteins to study mechanisms of inherited disorders. / Palmfeldt, Johan; Gregersen, Niels; Bross, Peter.

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

    Research output: Contribution to conferencePosterCommunication

  56. Published

    Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency (SCADD). / Edhager, Anders Valdemar; Gregersen, Niels; Palmfeldt, Johan.

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

    Research output: Contribution to conferencePosterCommunication

  57. Published

    Large-scale proteomic analysis of cholesteatoma. / Britze, Anders Faarup; Palmfeldt, Johan; Birkler, Rune Isak Dupont; Gregersen, Niels; Ovesen, Therese.

    2013. Abstract from 20th IFOS World Congress, Seoul, Korea, Republic of.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  58. Published

    Development of a chemical probe for identifying protein targets of α-oxoaldehydes. / Sibbersen, Christian; Palmfeldt, Johan; Hansen, Jakob; Gregersen, Niels; Jørgensen, Karl Anker; Johannsen, Mogens.

    In: Chemical Communications, Vol. 49, No. 38, 11.05.2013, p. 4012-4.

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

  59. Published

    Large-scale proteomic analysis of cholesteatoma. / Britze, Anders Faarup; Palmfeldt, Johan; Birkler, Rune Isak Dupont; Gregersen, Niels; Ovesen, Therese.

    2013. Abstract from Årsmøde i Dansk Selskab for Otorhinolaryngologi og Hoved-Halskirurgi, Nyborg, Denmark.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  60. Published

    A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early onset neurohypophyseal diabetes insipidus. / Christensen, Jane Hvarregaard; Kvistgaard, Helene; Knudsen, Jane Hagelskjær; Shaikh, Guftar; Tolmie, John; Cooke, Sandy; Pedersen, Søren; Corydon, Thomas Juhl; Gregersen, Niels; Rittig, Søren.

    In: Clinical Genetics, Vol. 83, No. 1, 2013, p. 44-52.

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

  61. Published

    A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred. / Birkegaard, Camilla; Christensen, Jane Hvarregaard; Falorni, Alberto; Marzotti, Stefania; Minarelli, Viviana; Gregersen, Niels; Rittig, Søren.

    In: Pituitary, Vol. 16, No. 2, 2013, p. 152-157.

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

  62. Published

    Evidence that fibroblasts from patients affected by medium-chain acyl-CoA dehydrogenase deficiency (MCADD) are under chronic ocidative stress. / Tonin, Anelise Miotti; Fernandez Guerra, Paula; Cornelius, Nanna; Olsen, Rikke; Wajner, M.; Gregersen, Niels.

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

    Research output: Contribution to conferencePosterCommunication

  63. Published

    Functional and physical mapping of the architecture of mitochondrial energy metabolism. / Wang, Y.; Goetzman, E.; Palmfeldt, Johan; Gregersen, Niels; Vockley, J.

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

    Research output: Contribution to conferencePosterCommunication

  64. Published

    Is there a molecular rationale for treating patients with riboflavinresponsive multiple acyl-CoA dehydrogenation deficiency (RR;: MADD) with CoQ10 in addition to riboflavin. / Olsen, Rikke; Cornelius, Nanna; Corydon, Thomas Juhl; Gregersen, Niels.

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

    Research output: Contribution to conferencePosterCommunication

  65. Published

    Large-scale proteom-analyse af Cholesteatom "Nye brikker i puslespillet". / Britze, Anders Faarup; Palmfeldt, Johan; Birkler, Rune Isak Dupont; Gregersen, Niels; Ovesen, Therese.

    2013. Abstract from Årsmøde i Dansk Selskab for Otorhinolaryngologi og Hoved-Halskirurgi, Nyborg, Denmark.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  66. Published

    The acyl-CoA dehydrogenases. / Kim, Jung-Ja P.; Gregersen, Niels; Olsen, Rikke; Ghisla, S.

    Flavoproteins. de Gruyter, 2013. p. 213-248.

    Research output: Contribution to book/anthology/report/proceedingBook chapterCommunication

  67. Published

    The stress modulator protein p66Shc as the effector for lipotoxic damage in VLCADD patients. / Lund, Martin; Gregersen, Niels.

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

    Research output: Contribution to conferencePosterCommunication

  68. 2012
  69. Published

    Candidate hippocampal biomarkers of susceptibility and resilience to stress in a rat model of depression. / Henningsen, Kim; Palmfeldt, Johan; Christiansen, Sofie; Baiges, Isabel; Bak, Steffen; Jensen, Ole Nørregaard; Gregersen, Niels; Wiborg, Ove.

    In: Molecular and Cellular Proteomics, Vol. 11, No. 7, 06.02.2012.

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

  70. Published

    An Infant With Ethylmalonic Encephalopathy Masquerading as a Hematologic Disorder. / Pavlou, Evangelos; Augoustides-Savvopoulou, Persephone; Gregersen, Niels; Haas, Dorothea; Gkampeta, Anastasia; Athanassiadou-Piperopoulou, Fani.

    In: Iranian Journal of Child Neurology, 2012.

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

  71. Published

    Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening. / Lund, Allan Meldgaard; Hougaard, David Michael; Simonsen, Henrik; Andresen, Brage Storstein; Christensen, Mette; Dunø, Morten; Skogstrand, Kristin; Olsen, Rikke K J; Jensen, Ulrich Glümer; Cohen, Arieh; Larsen, Nanna; Saugmann-Jensen, Peter; Gregersen, Niels; Brandt, Niels Jacob; Christensen, Ernst; Skovby, Flemming; Nørgaard-Pedersen, Bent.

    In: Molecular Genetics and Metabolism, Vol. 107, No. 3, 2012, p. 281-93.

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

  72. Published

    Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene. / Jendle, Johan; Christensen, Jane Hvarregaard; Kvistgaard, Helene; Gregersen, Niels; Rittig, Søren.

    In: Clinical Endocrinology, Vol. 77, 2012, p. 586–592.

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

  73. Published

    MCAD deficiency in Denmark. / Andresen, Brage Storstein; Lund, Allan Meldgaard; Hougaard, David Michael; Christensen, Ernst; Gahrn, Birthe; Christensen, Mette; Bross, Peter; Vested, Anne; Simonsen, Henrik; Skogstrand, Kristin; Olpin, Simon; Brandt, Niels Jacob; Skovby, Flemming; Nørgaard-Pedersen, Bent; Gregersen, Niels.

    In: Molecular Genetics and Metabolism, Vol. 106, No. 2, 2012, p. 175-88.

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

  74. Published

    Mitochondrial proteomics-a tool for the study of metabolic disorders. / Gregersen, Niels; Hansen, Jakob; Palmfeldt, Johan.

    In: Journal of Inherited Metabolic Disease, Vol. 35, No. 4, 2012, p. 715-26.

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

  75. Published

    Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency. / Cornelius, Nanna; Frerman, Frank E; Corydon, Thomas J; Palmfeldt, Johan; Bross, Peter; Gregersen, Niels; Olsen, Rikke K J.

    In: Human Molecular Genetics, Vol. 21, No. 15, 2012, p. 3435-48.

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

  76. Published

    Mutational spectrum and genotype-phenotype relations in 139 patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiencies. / Olsen, Rikke; Olpin, SE; Cornelius, Nanna; Andresen, BS; Gregersen, Niels.

    2012. Poster session presented at Society for the Study of Inborn Errors of Metabolism, Birmingham 2012, United Kingdom.

    Research output: Contribution to conferencePosterCommunication

  77. Published

    Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark. / Borch, Luise; Lund, Allan Meldgaard; Wibrand, Flemming; Christensen, Ernst; Søndergaard, Charlotte; Gahrn, Birthe; Hougaard, David Michael; Andresen, Brage Storstein; Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

    In: JIMD Reports , Vol. 3, 2012, p. 11-5.

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

  78. Published

    Plasma and urine proteomic profiles in childhood idiopathic nephrotic syndrome. / Andersen, René Frydensbjerg; Palmfeldt, Johan; Jespersen, Bente; Gregersen, Niels; Rittig, Søren.

    In: Proteomics - Clinical Applications, Vol. 6, No. 7-8, 2012, p. 382-93.

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

  79. Published

    Search for variations in the ethylmalonyl-CoA decarboxylase gene in patients with ethylmalonic aciduria. / Olsen, Rikke; Bie, Anne Sigaard; Van Schaftingen, E.; Gregersen, Niels.

    2012. Poster session presented at Society for the Study of Inborn Errors of Metabolism, Birmingham 2012, United Kingdom.

    Research output: Contribution to conferencePosterCommunication

  80. Published

    The Acyl-CoA Dehydrogenases : Handbook of Flavoproteins. / Kim, JP; Gregersen, Niels; Olsen, Rikke Katrine Jentoft; Ghisla, S.

    Handbook of Flavoproteins. de Gruyter, 2012. p. 213-240.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  81. 2011
  82. Published

    Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules. / Larsen, Jan; Pettersson, Olof J; Jakobsen, Maria; Thomsen, Rune; Pedersen, Christina B; Hertz, Jens M; Gregersen, Niels; Corydon, Thomas J; Jensen, Thomas G.

    In: BMC Research Notes, Vol. 4, 11.11.2011, p. 490.

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

  83. Published

    Quantitative proteomics reveals cellular targets of celastrol. / Hansen, Jakob; Palmfeldt, Johan; Vang, Søren; Corydon, Thomas Juhl; Gregersen, Niels; Bross, Peter.

    In: P L o S One, Vol. 6, No. 10, 26.10.2011.

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

  84. Published

    A cell model to study different degrees of Hsp60 deficiency in HEK293 cells. / Bie, Anne Sigaard; Palmfeldt, Johan; Hansen, Jakob; Christensen, Rikke; Gregersen, Niels; Corydon, Thomas Juhl; Bross, Peter.

    In: Cell Stress & Chaperones, Vol. 16, No. 6, 30.06.2011, p. 633-40.

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

  85. Published

    Proteomics Reveals that Redox Regulation Is Disrupted in Patients with Ethylmalonic Encephalopathy. / Palmfeldt, Johan; Vang, Søren; Stenbroen, Vibeke; Pavlou, Evangelos; Baycheva, Mila; Buchal, Gebhard; Monavari, Ardeshir Ahmad; Augoustides-Savvopoulou, Persephone; Mandel, Hanna; Gregersen, Niels.

    In: Journal of Proteome Research, 28.03.2011.

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

  86. Published

    Protein interaction and genetic disease. / Gregersen, Niels; Bross, Peter; Olsen, Rikke; Palmfeldt, Johan; Corydon, Thomas Juhl.

    In: In Encyclopedia of Life Sciences, 15.02.2011.

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

  87. Published

    SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site. / Koed Doktor, Thomas; Schroeder, Lisbeth Dahl; Vested, Anne; Palmfeldt, Johan; Andersen, Henriette Skovgaard; Gregersen, Niels; Andresen, Brage Storstein.

    In: Human Mutation, Vol. 32, No. 2, 01.02.2011, p. 220-30.

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

  88. Published

    Vulnerability to Oxidative Stress In Vitro in Pathophysiology of Mitochondrial Short-Chain Acyl-CoA Dehydrogenase Deficiency: Response to Antioxidants. / Zolkipli, Zarazuela; Pedersen, Christina Bak; Lamhonwah, Anne-Marie; Gregersen, Niels; Tein, Ingrid.

    In: P L o S One, Vol. 6, No. 4, 01.01.2011, p. e17534.

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

  89. Published

    Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency. / Rocha, H.; Lopes, L.; Vilarinho, L.; Ferreira, Rui; Carvalho, J.; Vitorino, R.; Santa, C.; Amado, F.; Gregersen, N.

    In: Journal of Proteomics, Vol. 75, No. 1, 2011, p. 221-228.

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

  90. Published

    Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases. / Lucas, Tânia G; Henriques, Bárbara J; Rodrigues, João V; Bross, Peter; Gregersen, Niels; Gomes, Cláudio M.

    In: BBA General Subjects, Vol. 1812, No. 12, 2011, p. 1658-63.

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

  91. Published

    Metabolic responses to heat, Anoxia, or oxidative stress elucidated in muscle cell cultures using 13C NMR spectroscopy. / Straadt, Ida Krestine; Young, Jette F; Petersen, Bent O.; Duus, Jens Ø.; Gregersen, Niels; Bross, Peter; Oksbjerg, Niels; Bertram, Hanne Christine S.

    Magnetic Resonance in Food Science: An exciting future. ed. / J.P. Renou; P.S. Belton; G.A. Webb. 2011. p. 118-123.

    Research output: Contribution to book/anthology/report/proceedingArticle in proceedingsResearch

  92. Published

    Multiplex Analysis of Cardiac Hypertrophic Signaling: Reduced in vivoPhosphorylation of Glycogen Synthase Kinase-3β and Proline-Rich Akt Substrate (PRAS40). / Larsen, Jens Kjærgaard Rolighed; Smerup, Morten Holdgaard; Nørregaard, Rikke; Christensen, Jane Hvarregaard; Sivesgaard, Kim; Christensen, Sara Dahl; Christensen, Karin; Sloth, Erik; Torp, Peter; Gregersen, Niels; Hasenkam, John Michael.

    In: Current Signal Transduction Therapy, Vol. 6, No. 1, 2011, p. 65-70.

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

  93. Published

    Normal level of plasma free carnitine and acylcarnitine in follow-up samples from a presymptomatic case of carnitine palmitoyl transferase 1 deficiency detected through newborn screening in Denmark. / Louise, Borch; Meldgaard Lund, Allan; Wibrandt, Flemming ; Christensen, Ernst; Søndergaard, Charlotte; Gahrn, Birthe; Michael Hougaard, David; Andresen, Brage Storstein; Gregersen, Niels; Olsen, Rikke.

    In: JIMD Reports , 2011.

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

  94. Published

    Protein Misfolding and degradation in Genetic Diseases (updated version). / Bross, Peter; Andresen, Brage Storstein; Corydon, Thomas Juhl; Gregersen, Niels.

    In: Encyclopedia of the Human Genome. Nature Publishing Group, 2011.

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

  95. Published

    Quantitative proteomics reveals cellular targets of celastrol. / Hansen, Jakob; Palmfeldt, Johan; Vang, Søren; Corydon, Thomas J; Gregersen, Niels; Bross, Peter.

    In: P L o S One, Vol. 6, No. 10, 2011, p. e26634.

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

  96. Published

    Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase. / Schmidt, Stinne P; Corydon, Thomas J; Pedersen, Christina B; Vang, Søren; Palmfeldt, Johan; Stenbroen, Vibeke; Wanders, Ronald J A; Ruiter, Jos P N; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, Vol. 34, 2011.

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

  97. Published

    Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. / Sykut-Cegielska, Jolanta; Gradowska, Wanda; Piekutowska-Abramczuk, Dorota; Andresen, Brage S; Olsen, Rikke K J; Ołtarzewski, Mariusz; Pronicki, Maciej; Pajdowska, Magdalena; Bogdańska, Anna; Jabłońska, Ewa; Radomyska, Barbara; Kuśmierska, Katarzyna; Krajewska-Walasek, Małgorzata; Gregersen, Niels; Pronicka, Ewa.

    In: Journal of Inherited Metabolic Disease, Vol. 34, No. 1, 2011, p. 185-95.

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

  98. 2010
  99. Published

    High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. / Olsen, Rikke Katrine Jentoft; Dobrowolski, Steven F; Kjeldsen, Margrethe; Hougaard, David; Simonsen, Henrik; Gregersen, Niels; Andresen, Brage Storstein.

    In: Journal of Inherited Metabolic Disease, Vol. 33, No. 3, 06.2010, p. 247-60.

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

  100. Published

    A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report. / Dessein, Anne-Frédérique; Fontaine, Monique; Andresen, Brage S; Gregersen, Niels; Brivet, Michèle; Rabier, Daniel; Napuri-Gouel, Silvia; Dobbelaere, Dries; Mention-Mulliez, Karine; Martin-Ponthieu, Annie; Briand, Gilbert; Millington, David S; Vianey-Saban, Christine; Wanders, Ronald J A; Vamecq, Joseph.

    In: Orphanet Journal of Rare Diseases, Vol. 5, 01.01.2010, p. 26.

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

  101. Published

    A UPLC-MS/MS application for profiling of intermediary energy metabolites in microdialysis samples--a method for high-throughput. / Birkler, Rune Isak Dupont; Støttrup, Nicolaj; Hermannson, Sigurd; Nielsen, Torsten Toftegaard; Gregersen, Niels; Bøtker, Hans Erik; Andreasen, Mette Findal; Johannsen, Mogens.

    In: Journal of Pharmaceutical and Biomedical Analysis, Vol. 53, No. 4, 2010, p. 983-90.

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

  102. Published

    A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. / Piekutowska-Abramczuk, Dorota; Olsen, Rikke K J; Wierzba, Jolanta; Popowska, Ewa; Jurkiewicz, Dorota; Ciara, Elżbieta; Ołtarzewski, Mariusz; Gradowska, Wanda; Sykut-Cegielska, Jolanta; Krajewska-Walasek, Małgorzata; Andresen, Brage S; Gregersen, Niels; Pronicka, Ewa.

    In: Journal of Inherited Metabolic Disease, 2010.

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

  103. Published

    A comprehensive HADHA c.1528G>C frequency studyreveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. / Piekutowska-Abramczuk , D; Olsen, Rikke; Wierzba, J; Popowska, E; Jurkiewicz , D; Ciara, E; Ołtarzewski, M; Gradowska , W; Sykut-Cegielska , J; Krajewska-Walasek , M; Andresen, BS; Gregersen, Niels; Pronicka, E.

    In: Journal of Inherited Metabolic Disease, 2010.

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

  104. Published

    Anti-inflammatory heat shock protein 70 genes are positively associated with human survival. / Singh, Ripudaman; Kølvraa, Steen; Bross, Peter Gerd; Christensen, Kaare; Bathum, Lise; Gregersen, Niels; Tan, Qihua; Rattan, Suresh.

    In: Current Pharmaceutical Design, Vol. 16, No. 7, 2010, p. 796-801.

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

  105. Published

    Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. / Pedersen, Christina Bak; Zolkipli, Zarazuela; Vang, Søren; Palmfeldt, Johan; Kjeldsen, Margrethe; Stenbroen, Vibeke; Schmidt, Stinne; Wanders, Ronald J A; Ruiter, Jos P N; Wibrand, Flemming; Tein, Ingrid; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, Vol. 33, No. 3, 2010, p. 211-22.

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

  106. Published

    CHARACTERIZATION OF THE MITOCHONDRIAL PROTEOME IN CULTIVATED CELLS FROM PATIENTS SUFFERING FROM ETHYLMALONIC ENCEPHALOPATHY. / Palmfeldt, Johan; Stenbroen, Vibeke; Vang, Søren; Gregersen, Niels.

    In: Molecular Genetics and Metabolism, No. 1, 2010.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearch

  107. Published

    Disease mechanisms and protein structures in fatty acid oxidation defects. / Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

    In: Journal of Inherited Metabolic Disease, 2010.

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

  108. Published

    High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. / Olsen, Rikke; Dobrowolski, SF; Kjeldsen, Margrethe; Hougaard, D; Simonsen, H; Gregersen, Niels; Andresen, BS.

    In: Journal of Inherited Metabolic Disease, Vol. 33, 2010, p. 247-60.

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

  109. Published

    Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice. / Christensen, Jane H; Nielsen, Marit N; Hansen, Jakob; Füchtbauer, Annette; Füchtbauer, Ernst-Martin; West, Mark; Corydon, Thomas J; Gregersen, Niels; Bross, Peter.

    In: Cell Stress & Chaperones, Vol. 15, No. 6, 2010, p. 851-863.

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

  110. Published

    Lipogenesis is decreased by grape seed proanthocyanidins according to liver proteomics of rats fed a high fat diet. / Baiges, Isabel; Palmfeldt, Johan; Blade, Cinta; Gregersen, Niels; Arola, Lluis.

    In: Molecular and Cellular Proteomics, 2010.

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

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