Joel Smet

Joel Smet

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Joel Smet

Joel Smet

Publications by authors named "Joel Smet"

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Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in .

Neurol Genet 2018 Dec 27;4(6):e298. Epub 2018 Nov 27.

Department of Neurology (D.M.H.), Ghent University Hospital; Department of Pediatrics (A.V.V., J.S., E.V., R.V.C.), Division of Pediatric Neurology and Metabolism, Ghent University Hospital; Department of Radiology (M.A.), Ghent University Hospital; Department of Nuclear Medicine (I.G.), Ghent University Hospital; Center for Medical Genetics Ghent (T.S., B.M.), Ghent University, Belgium; and Center for Medical Genetics (S.S.), UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1212/NXG.0000000000000298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278240PMC
December 2018

New insights into the phenotype of FARS2 deficiency.

Mol Genet Metab 2017 12 12;122(4):172-181. Epub 2017 Oct 12.

Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734183PMC
December 2017

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

Mitochondrion 2016 Mar 23;27:32-8. Epub 2016 Feb 23.

Laboratories of Neurogenetics and Ultrastructural Neuropathology and Biobank, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium; Neurogenetics Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerpen, Belgium; Department of Neurology, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, Belgium.

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http://dx.doi.org/10.1016/j.mito.2016.02.001DOI Listing
March 2016

A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome.

PLoS One 2014 10;9(11):e112950. Epub 2014 Nov 10.

Research Group Reproduction and Genetics (REGE), Vrije Universiteit Brussel (VUB), Brussels, Belgium; Center for Medical Genetics, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112950PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226615PMC
December 2015

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

J Inherit Metab Dis 2015 Nov 14;38(6):1147-53. Epub 2015 May 14.

Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Gent University Hospital, Gent, Belgium.

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http://dx.doi.org/10.1007/s10545-015-9857-1DOI Listing
November 2015

Forearm deoxyhemoglobin and deoxymyoglobin (deoxy[Hb + Mb]) measured by near-infrared spectroscopy (NIRS) using a handgrip test in mitochondrial myopathy.

Appl Spectrosc 2015 Mar 1;69(3):342-7. Epub 2015 Feb 1.

Department of Movement and Sports Sciences, Ghent University, Watersportlaan 2, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1366/14-07604DOI Listing
March 2015

Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.

Eur J Pediatr 2015 Feb 10;174(2):267-70. Epub 2014 Jul 10.

Department of Neonatology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium,

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http://link.springer.com/10.1007/s00431-014-2370-y
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http://dx.doi.org/10.1007/s00431-014-2370-yDOI Listing
February 2015

Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme q.

Anesthesiology 2015 Feb;122(2):343-52

From the Department of Pediatrics, Division of Pediatric Neurology and Metabolism (A.V.V., J.S., E.D.L., B.D.P., R.V.C.), Department of Critical Care Medicine, Division of Pediatric Intensive Care Medicine (A.d.J.), Department of Clinical Chemistry (B.W.), Department of Emergency Medicine (P.D.P.), Ghent University Hospital, Ghent, Belgium; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Germany (J.G.O.); Department of Pediatrics, University of Ghent, Ghent, Belgium (G.D.); Physiology Group, Department of Basic Medical Sciences, Ghent University, Ghent, Belgium (B.V.); Department of Critical Care Medicine, Antwerp University Hospital, Antwerp University, Edegem, Belgium (P.G.J., N.V.R.); and Department of Critical Care Medicine, ZNA Antwerp, Belgium (N.V.R.).

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http://dx.doi.org/10.1097/ALN.0000000000000484DOI Listing
February 2015

Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation.

Biochim Biophys Acta 2015 Feb 20;1853(2):285-98. Epub 2014 Nov 20.

KU Leuven - University of Leuven, Department of Pharmaceutical and Pharmacological Sciences, Laboratory of Cell Metabolism, B-3000 Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.bbamcr.2014.11.017DOI Listing
February 2015

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Eur J Hum Genet 2015 Jan 26;23(1):41-8. Epub 2014 Mar 26.

1] Research Group Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Brussels, Belgium [2] Department of Pediatric Neurology, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://dx.doi.org/10.1038/ejhg.2014.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266735PMC
January 2015

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.

Mitochondrion 2014 Jul 20;17:101-5. Epub 2014 Jun 20.

Division of Pediatric Neurology and Metabolism, Department of Pediatrics, Ghent University Hospital, 185 De Pintelaan, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.mito.2014.06.003DOI Listing
July 2014

Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects.

Phytother Res 2014 Feb 26;28(2):312-6. Epub 2013 Apr 26.

Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ptr.4988DOI Listing
February 2014

Forearm muscle oxygenation responses during and following arterial occlusion in patients with mitochondrial myopathy.

Respir Physiol Neurobiol 2014 Jan 23;190:70-5. Epub 2013 Sep 23.

Department of Movement and Sport Sciences, Ghent University, Watersportlaan 2, 9000 Ghent, Belgium; Center of Sports Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.resp.2013.09.007DOI Listing
January 2014

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

Mitochondrion 2013 Nov 22;13(6):656-61. Epub 2013 Sep 22.

Department of Pediatrics, University of Colorado, 13121 East 17th Avenue, Aurora, CO 80045, USA; Division of Pediatric Neurology, Oregon Health Sciences Center, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA.

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http://dx.doi.org/10.1016/j.mito.2013.09.004DOI Listing
November 2013

Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells.

Radiat Res 2013 Apr 6;179(4):433-43. Epub 2013 Mar 6.

Department of Radiation Oncology and Experimental Cancer Research, Ghent University Hospital, Belgium.

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http://dx.doi.org/10.1667/RR3070.1DOI Listing
April 2013

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

Pediatr Res 2012 Sep 22;72(3):232-40. Epub 2012 Jun 22.

Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/pr.2012.84DOI Listing
September 2012

Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms.

Muscle Nerve 2012 Aug;46(2):246-56

Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1002/mus.23306DOI Listing
August 2012

Complex III staining in blue native polyacrylamide gels.

J Inherit Metab Dis 2011 Jun 12;34(3):741-7. Epub 2011 Apr 12.

Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9315
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http://link.springer.com/10.1007/s10545-011-9315-7
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http://dx.doi.org/10.1007/s10545-011-9315-7DOI Listing
June 2011

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.

J Inherit Metab Dis 2010 Dec 16;33 Suppl 3:S55-62. Epub 2010 Jan 16.

Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa.

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http://dx.doi.org/10.1007/s10545-009-9020-yDOI Listing
December 2010

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Electrophoresis 2009 Oct;30(20):3565-72

Department of Paediatrics, Division of Paediatric Neurology and Metabolism, University Hospital Ghent, Ghent, Belgium.

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http://doi.wiley.com/10.1002/elps.200900213
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http://dx.doi.org/10.1002/elps.200900213DOI Listing
October 2009

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

Arch Neurol 2007 Sep;64(9):1339-43

Center for Medical Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1001/archneur.64.9.1339DOI Listing
September 2007

The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.

Acta Neurol Belg 2007 Sep;107(3):78-83

Center for Medical Genetics, Vrije Universiteit Brussel.

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September 2007

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

Eur J Paediatr Neurol 2007 Jan 11;11(1):17-20. Epub 2006 Dec 11.

Center for Medical Genetics, Neurology AZ-VUB, Dutch-speaking Free University of Brussels, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2006.10.004DOI Listing
January 2007

A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.

Arch Neurol 2006 Aug;63(8):1194-8

Center for Medical Genetics, Dutch-Speaking Free University of Brussels, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1001/archneur.63.8.1194DOI Listing
August 2006

Linezolid-induced inhibition of mitochondrial protein synthesis.

Clin Infect Dis 2006 Apr 13;42(8):1111-7. Epub 2006 Mar 13.

Department of Internal Medicine, AZ Sint-Jan AV, Bruges, Belgium.

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http://dx.doi.org/10.1086/501356DOI Listing
April 2006

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.

Am J Med Genet A 2005 Aug;137(2):170-5

Center of Medical Genetics, Free University Brussels, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.30854DOI Listing
August 2005

Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.

Eur J Paediatr Neurol 2004 ;8(6):299-306

Center for Medical genetics, Dutch speaking Free University of Brussels, AZ-VUB, Laarbeeklaan 101, B-1090 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2004.07.006DOI Listing
January 2005