Niels Gregersen

Niels Gregersen

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Niels Gregersen

Niels Gregersen

Publications by authors named "Niels Gregersen"

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All-Optical Mapping of the Position of Quantum Dots Embedded in a Nanowire Antenna.

Nano Lett 2018 10 7;18(10):6434-6440. Epub 2018 Sep 7.

Univ. Grenoble Alpes, CEA, INAC, PHELIQS , "Nanophysique et semiconducteurs" group, F-38000 Grenoble , France.

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http://dx.doi.org/10.1021/acs.nanolett.8b02826DOI Listing
October 2018

Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.

Eur J Pediatr 2018 Sep 28;177(9):1399-1405. Epub 2018 Mar 28.

Department of Pediatrics and Adolescent Medicine and Department of Clinical Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.

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http://dx.doi.org/10.1007/s00431-018-3132-zDOI Listing
September 2018

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Mol Genet Metab 2017 12 2;122(4):182-188. Epub 2017 Nov 2.

Department of Biochemistry and Molecular Biology, The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.014DOI Listing
December 2017

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.

J Inherit Metab Dis 2017 Sep 17;40(5):641-655. Epub 2017 May 17.

Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University Hospital and Faculty of Health, Aarhus University, Palle Juul-Jensens Boulevard 99, Aarhus N, 8200, Denmark.

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http://dx.doi.org/10.1007/s10545-017-0047-1DOI Listing
September 2017

Novel Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus.

Case Rep Nephrol Dial 2017 Sep-Dec;7(3):130-137. Epub 2017 Sep 27.

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

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http://dx.doi.org/10.1159/000480009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696758PMC
September 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.

Clin Chim Acta 2017 Aug 19;471:101-106. Epub 2017 May 19.

Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU Lille, France; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, France; Inserm, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.026DOI Listing
August 2017

A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome.

Acta Paediatr 2017 Jan;106(1):161-167

Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1111/apa.13635DOI Listing
January 2017

Linking telomere loss and mitochondrial dysfunction in chronic disease.

Front Biosci (Landmark Ed) 2017 01 1;22:117-127. Epub 2017 Jan 1.

Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University and Aarhus University Hospital. Palle Juul-Jensens Boulevard 39, 8200 Aarhus N, Denmark.

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http://dx.doi.org/10.2741/4475DOI Listing
January 2017

Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice.

Biochem Biophys Rep 2016 Dec 17;8:333-339. Epub 2016 Sep 17.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, USA.

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http://dx.doi.org/10.1016/j.bbrep.2016.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613767PMC
December 2016

Selected reaction monitoring mass spectrometry for relative quantification of proteins involved in cellular life and death processes.

J Chromatogr B Analyt Technol Biomed Life Sci 2016 Nov 23;1035:49-56. Epub 2016 Sep 23.

Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University Hospital and Faculty of Health, Aarhus University, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.jchromb.2016.09.017DOI Listing
November 2016

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.

Proteomics 2016 Apr 16;16(7):1166-76. Epub 2016 Mar 16.

Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1002/pmic.201500336DOI Listing
April 2016

On-Demand Single Photons with High Extraction Efficiency and Near-Unity Indistinguishability from a Resonantly Driven Quantum Dot in a Micropillar.

Phys Rev Lett 2016 Jan 14;116(2):020401. Epub 2016 Jan 14.

Shanghai Branch, National Laboratory for Physical Sciences at Microscale and Department of Modern Physics, University of Science and Technology of China, Shanghai, 201315, China.

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http://dx.doi.org/10.1103/PhysRevLett.116.020401DOI Listing
January 2016

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.

J Inherit Metab Dis 2015 Jul 30;38(4):703-19. Epub 2015 May 30.

Research Unit for Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark,

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http://dx.doi.org/10.1007/s10545-015-9861-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4493798PMC
July 2015

A cleavable azide resin for direct click chemistry mediated enrichment of alkyne-labeled proteins.

Chem Commun (Camb) 2014 Oct;50(81):12098-100

Department of Chemistry, Aarhus University, Langelandsgade 140, 8000 Aarhus C, Denmark.

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http://xlink.rsc.org/?DOI=C4CC05246C
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http://dx.doi.org/10.1039/c4cc05246cDOI Listing
October 2014

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?

Biochim Biophys Acta 2014 Sep 16;1842(9):1658-67. Epub 2014 Jun 16.

Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.06.011DOI Listing
September 2014

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.

Mol Genet Genomic Med 2014 Sep 4;2(5):383-92. Epub 2014 Jun 4.

Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital Aarhus, Denmark.

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http://dx.doi.org/10.1002/mgg3.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190873PMC
September 2014

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts.

Hum Mol Genet 2014 Aug 3;23(16):4285-301. Epub 2014 Apr 3.

Research Unit for Molecular Medicine, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Brendstrupgaardsvej 100, Aarhus 8200, Denmark and

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http://dx.doi.org/10.1093/hmg/ddu146DOI Listing
August 2014

Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?

Mol Genet Metab 2013 12;110 Suppl:S31-9. Epub 2013 Oct 12.

Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital, Brendstrupgaardsvej 100, Aarhus, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.007DOI Listing
July 2014

Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.

Mol Genet Metab 2014 Mar 24;111(3):360-368. Epub 2014 Jan 24.

Research Unit for Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.01.007DOI Listing
March 2014

The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.

Hum Mutat 2014 Jan 28;35(1):86-95. Epub 2013 Oct 28.

Research Unit for Molecular Medicine, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

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http://dx.doi.org/10.1002/humu.22455DOI Listing
January 2014

44-plex cytokine profile of cholesteatoma.

Acta Otolaryngol 2014 Jan 21;134(1):41-50. Epub 2013 Nov 21.

Department of Otorhinolaryngology, Head and Neck Surgery .

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http://dx.doi.org/10.3109/00016489.2013.844360DOI Listing
January 2014

Heat stress and sudden infant death syndrome--stress gene expression after exposure to moderate heat stress.

Forensic Sci Int 2013 Oct 27;232(1-3):16-24. Epub 2013 Jul 27.

Institute of Forensic Medicine, Department of Forensic Pathology, Aarhus University, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.forsciint.2013.06.003DOI Listing
October 2013

Harnessing light with photonic nanowires: fundamentals and applications to quantum optics.

Chemphyschem 2013 Aug 19;14(11):2393-402. Epub 2013 Jun 19.

CEA-CNRS-UJF group Nanophysique et Semiconducteurs, CEA, INAC, SP2M, Grenoble, France.

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http://dx.doi.org/10.1002/cphc.201300033DOI Listing
August 2013

A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred.

Pituitary 2013 Jun;16(2):152-7

Department of Pediatrics, Aarhus University Hospital, Brendstrupgaardsvej 100, 8200 Aarhus, Denmark.

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http://dx.doi.org/10.1007/s11102-012-0392-xDOI Listing
June 2013

An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.

J Child Neurol 2013 May 17;28(5):668-71. Epub 2012 Jul 17.

2nd Paediatric Department, Aristotle University of Thessaloniki, AHEPA General Hospital, Thessaloniki, Greece.

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http://dx.doi.org/10.1177/0883073812449070DOI Listing
May 2013

Development of a chemical probe for identifying protein targets of α-oxoaldehydes.

Chem Commun (Camb) 2013 May 8;49(38):4012-4. Epub 2013 Apr 8.

Department of Chemistry, Aarhus University, Langelandsgade 140, 8000 Aarhus C, Denmark.

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http://xlink.rsc.org/?DOI=c3cc41099d
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http://dx.doi.org/10.1039/c3cc41099dDOI Listing
May 2013

Dielectric GaAs antenna ensuring an efficient broadband coupling between an InAs quantum dot and a Gaussian optical beam.

Phys Rev Lett 2013 Apr 24;110(17):177402. Epub 2013 Apr 24.

CEA-CNRS-UJF Group, Nanophysique et Semiconducteurs, CEA, INAC, SP2M, F-38054 Grenoble, France.

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https://link.aps.org/doi/10.1103/PhysRevLett.110.177402
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http://dx.doi.org/10.1103/PhysRevLett.110.177402DOI Listing
April 2013

Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene.

Clin Endocrinol (Oxf) 2012 Oct;77(4):586-92

School of Health and Medical Sciences, Örebro University, Örebro, Sweden.

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http://dx.doi.org/10.1111/j.1365-2265.2012.04417.xDOI Listing
October 2012

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.

Hum Mol Genet 2012 Aug 18;21(15):3435-48. Epub 2012 May 18.

The Research Unit for Molecular Medicine, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Denmark.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/dds175DOI Listing
August 2012

Plasma and urine proteomic profiles in childhood idiopathic nephrotic syndrome.

Proteomics Clin Appl 2012 Aug;6(7-8):382-93

Department of Peadiatrics, Aarhus University Hospital, Skejby, Aarhus, Denmark.

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http://dx.doi.org/10.1002/prca.201100081DOI Listing
August 2012

Candidate hippocampal biomarkers of susceptibility and resilience to stress in a rat model of depression.

Mol Cell Proteomics 2012 Jul 6;11(7):M111.016428. Epub 2012 Feb 6.

Centre for Psychiatric Research, Institute of Clinical Medicine, Aarhus University Hospital, University of Aarhus, Risskov, Denmark.

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http://dx.doi.org/10.1074/mcp.M111.016428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394954PMC
July 2012

Mitochondrial proteomics--a tool for the study of metabolic disorders.

J Inherit Metab Dis 2012 Jul 17;35(4):715-26. Epub 2012 Apr 17.

Research Unit for Molecular Medicine, Institute of Clinical Medicine, Faculty of Health Sciences, Aarhus University, Aarhus, Denmark.

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http://dx.doi.org/10.1007/s10545-012-9480-3DOI Listing
July 2012

Modeling of cavities using the analytic modal method and an open geometry formalism.

J Opt Soc Am A Opt Image Sci Vis 2012 Jul;29(7):1237-46

DTU Fotonik, Department of Photonics Engineering, Technical University of Denmark, Kongens Lyngby, Denmark.

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http://dx.doi.org/10.1364/JOSAA.29.001237DOI Listing
July 2012

MCAD deficiency in Denmark.

Mol Genet Metab 2012 Jun 4;106(2):175-88. Epub 2012 Apr 4.

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Aarhus, Denmark.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921200119
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http://dx.doi.org/10.1016/j.ymgme.2012.03.018DOI Listing
June 2012

Quantitative proteomics reveals cellular targets of celastrol.

PLoS One 2011 26;6(10):e26634. Epub 2011 Oct 26.

Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Aarhus, Denmark.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0026634PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202559PMC
March 2012

Linearly polarized, single-mode spontaneous emission in a photonic nanowire.

Phys Rev Lett 2012 Feb 17;108(7):077405. Epub 2012 Feb 17.

CEA-CNRS-UJF group Nanophysique et Semiconducteurs, CEA, INAC, SP2M, Grenoble, France.

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http://dx.doi.org/10.1103/PhysRevLett.108.077405DOI Listing
February 2012

Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.

Biochim Biophys Acta 2011 Dec 24;1812(12):1658-63. Epub 2011 Sep 24.

Instituto Tecnologia Química e Biológica, Universidade Nova de Lisboa, Oeiras, Portugal.

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http://dx.doi.org/10.1016/j.bbadis.2011.09.009DOI Listing
December 2011

A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.

Cell Stress Chaperones 2011 Nov 30;16(6):633-40. Epub 2011 Jun 30.

Research Unit for Molecular Medicine (MMF), Aarhus University Hospital, Skejby, Aarhus N, Denmark.

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http://dx.doi.org/10.1007/s12192-011-0275-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220388PMC
November 2011

Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathy.

J Proteome Res 2011 May 28;10(5):2389-96. Epub 2011 Mar 28.

Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Denmark.

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http://dx.doi.org/10.1021/pr101218dDOI Listing
May 2011

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.

Hum Mutat 2011 Feb 25;32(2):220-30. Epub 2011 Jan 25.

Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense M, Denmark.

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http://dx.doi.org/10.1002/humu.21419DOI Listing
February 2011

Protein misfolding and cellular stress: an overview.

Methods Mol Biol 2010 ;648:3-23

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http://dx.doi.org/10.1007/978-1-60761-756-3_1DOI Listing
November 2010

Disease mechanisms and protein structures in fatty acid oxidation defects.

J Inherit Metab Dis 2010 Oct 12;33(5):547-53. Epub 2010 Feb 12.

Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University and Aarhus University Hospital, Skejby, Aarhus, Denmark.

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http://link.springer.com/10.1007/s10545-010-9046-1
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http://dx.doi.org/10.1007/s10545-010-9046-1DOI Listing
October 2010

Designs for high-efficiency electrically pumped photonic nanowire single-photon sources.

Opt Express 2010 Sep;18(20):21204-18

DTU Fotonik, Department of Photonics Engineering, Technical University of Denmark, Building 343, DK-2800 Kongens Lyngby, Denmark.

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http://dx.doi.org/10.1364/OE.18.021204DOI Listing
September 2010

Lipogenesis is decreased by grape seed proanthocyanidins according to liver proteomics of rats fed a high fat diet.

Mol Cell Proteomics 2010 Jul 23;9(7):1499-513. Epub 2010 Mar 23.

Biochemistry and Biotechnology Department, Universitat Rovira i Virgili, 43007 Tarragona, Spain.

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http://www.mcponline.org/lookup/doi/10.1074/mcp.M000055-MCP2
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http://dx.doi.org/10.1074/mcp.M000055-MCP201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2938094PMC
July 2010

Metabolic profiling of heat or anoxic stress in mouse C2C12 myotubes using multinuclear magnetic resonance spectroscopy.

Metabolism 2010 Jun 16;59(6):814-23. Epub 2009 Dec 16.

Department of Food Science, Faculty of Agricultural Sciences, University of Aarhus, P.O. Box 50, DK-8830 Tjele, Denmark.

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http://dx.doi.org/10.1016/j.metabol.2009.09.029DOI Listing
June 2010

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.

J Inherit Metab Dis 2010 Jun 5;33(3):211-22. Epub 2010 May 5.

Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej 100, Aarhus N, Denmark.

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http://dx.doi.org/10.1007/s10545-010-9086-6DOI Listing
June 2010

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

J Inherit Metab Dis 2010 Jun 18;33(3):247-60. Epub 2010 May 18.

Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej, Aarhus N, Denmark.

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http://dx.doi.org/10.1007/s10545-010-9101-yDOI Listing
June 2010

Spontaneous decay of a single quantum dot coupled to a metallic slot waveguide in the presence of leaky plasmonic modes.

Opt Express 2010 Jun;18(12):12489-98

Department of Photonics Engineering, DTU Fotonik, Ørsteds Plads, Building 343, DK- 2800 Kgs Lyngby, Denmark.

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http://dx.doi.org/10.1364/OE.18.012489DOI Listing
June 2010

NMR-based metabonomic investigation of heat stress in myotubes reveals a time-dependent change in the metabolites.

J Agric Food Chem 2010 May;58(10):6376-86

Department of Food Science, Faculty of Agricultural Sciences, Aarhus University, Blichers Alle 20, PO Box 50, DK-8830 Tjele, Denmark.

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http://dx.doi.org/10.1021/jf904197uDOI Listing
May 2010

Oxidative stress-induced metabolic changes in mouse C2C12 myotubes studied with high-resolution 13C, 1H, and 31P NMR spectroscopy.

J Agric Food Chem 2010 Feb;58(3):1918-26

Department of Food Science, Faculty of Agricultural Sciences, Aarhus University, DK-8830 Tjele, Denmark.

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http://pubs.acs.org/doi/abs/10.1021/jf903505a
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http://dx.doi.org/10.1021/jf903505aDOI Listing
February 2010

Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.

Am J Physiol Renal Physiol 2009 Dec 7;297(6):F1518-25. Epub 2009 Oct 7.

Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark.

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http://dx.doi.org/10.1152/ajprenal.00331.2009DOI Listing
December 2009

Mitochondrial fatty acid oxidation defects--remaining challenges.

J Inherit Metab Dis 2008 Oct 7;31(5):643-57. Epub 2008 Oct 7.

Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark.

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http://link.springer.com/10.1007/s10545-008-0990-y
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http://dx.doi.org/10.1007/s10545-008-0990-yDOI Listing
October 2008

Controlling the emission profile of a nanowire with a conical taper.

Opt Lett 2008 Aug;33(15):1693-5

Department of Photonics Engineering, DTU Fotonik, Technical University of Denmark, Building 343, DK-2800 Kongens Lyngby, Denmark.

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http://dx.doi.org/10.1364/ol.33.001693DOI Listing
August 2008

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Mol Genet Metab 2008 Feb 3;93(2):179-89. Epub 2007 Dec 3.

Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.021DOI Listing
February 2008

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.

J Neurol 2007 Jul 10;254(7):897-900. Epub 2007 Apr 10.

Research Unit for Molecular Medicine, Faculty of Health Sciences Aarhus University Hospital , Skejby Sygehus, Brendstrupgaardsvej, 8200, Aarhus N, Denmark,

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http://link.springer.com/content/pdf/10.1007/s00415-006-0470
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http://link.springer.com/10.1007/s00415-006-0470-y
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http://dx.doi.org/10.1007/s00415-006-0470-yDOI Listing
July 2007

Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice.

Mol Genet Metab 2007 Jun 25;91(2):128-37. Epub 2007 Apr 25.

Institute of Human Genetics, University of Aarhus, DK-8000 Aarhus C, Denmark.

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http://dx.doi.org/10.1016/j.ymgme.2007.03.005DOI Listing
June 2007

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.

Mol Genet Metab 2007 Jan 17. Epub 2007 Jan 17.

Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ont., Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.ymgme.2006.11.011DOI Listing
January 2007