Rudy Van Coster

Rudy Van Coster

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Rudy Van Coster

Publications by authors named "Rudy Van Coster"

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Characteristics, Early Development and Outcome of Parent-Reported Regression in Autism Spectrum Disorder.

J Autism Dev Disord 2019 Aug 28. Epub 2019 Aug 28.

Department of Paediatric Neurology and Metabolism, Faculty of Medicine and Health Sciences, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium.

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http://dx.doi.org/10.1007/s10803-019-04183-xDOI Listing
August 2019

Recurrent arterial ischemic stroke with good response to mycophenolate mofetil.

Eur J Paediatr Neurol 2019 Jan 14;23(1):222-227. Epub 2018 Nov 14.

Department of Paediatrics, Division of Paediatric Neurology, Ghent University Hospital, C. Heymanslaan 10, B-9000, Gent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.11.003DOI Listing
January 2019

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

A Critical Assessment of the Therapeutic Potential of Resveratrol Supplements for Treating Mitochondrial Disorders.

Nutrients 2017 Sep 14;9(9). Epub 2017 Sep 14.

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

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http://www.mdpi.com/2072-6643/9/9/1017
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http://dx.doi.org/10.3390/nu9091017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622777PMC
September 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Multiple sclerosis in Belgian children: A multicentre retrospective study.

Eur J Paediatr Neurol 2017 Mar 25;21(2):358-366. Epub 2016 Oct 25.

Department of Paediatrics, Division of Paediatric Neurology, Ghent University Hospital, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.10.005DOI Listing
March 2017

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.

Mol Genet Metab 2016 07 13;118(3):185-9. Epub 2016 May 13.

Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Service de Neurologie pédiatrique, B-1200 Brussels, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.05.005DOI Listing
July 2016

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

Cellular Heterogeneity in the Level of mtDNA Heteroplasmy in Mouse Embryonic Stem Cells.

Cell Rep 2015 Nov 5;13(7):1304-1309. Epub 2015 Nov 5.

Ghent Fertility and Stem Cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.10.019DOI Listing
November 2015

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

J Med Genet 2015 Aug 18;52(8):532-40. Epub 2015 Mar 18.

Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103049DOI Listing
August 2015

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.

Hum Mol Genet 2015 Mar 4;24(5):1420-31. Epub 2014 Nov 4.

Project A.L.S./Jenifer Estess Laboratory for Stem Cell Research, New York, NY 10032, USA, Center for Motor Neuron Biology and Disease, Departments of Pathology and Cell Biology, Neurology, and Neuroscience, Columbia Stem Cell Initiative,

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http://dx.doi.org/10.1093/hmg/ddu556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402342PMC
March 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

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
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

Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

J Child Neurol 2014 Aug 17;29(8):NP18-23. Epub 2013 Jul 17.

Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.

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http://dx.doi.org/10.1177/0883073813492895DOI Listing
August 2014

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

Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.

Eur J Paediatr Neurol 2014 May 15;18(3):439-43. Epub 2014 Jan 15.

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

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http://dx.doi.org/10.1016/j.ejpn.2014.01.001DOI Listing
May 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

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Neurology 2013 Nov 9;81(19):1697-703. Epub 2013 Oct 9.

From the Neurogenetics Group (S.W., R.H., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., R.H., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Department of Paediatrics (V.I.), University Hospital Centre Zagreb, Croatia; Division of Pediatric Neurology and Metabolism (R.V.C.), Department of Pediatrics, University Hospital Ghent, Belgium; Danish Epilepsy Centre (H.H., R.S.M.), Dianalund; Institute for Regional Health Research (H.H.), University of Southern Denmark, Odense; Department of Child Neurology (S.G.), Juliane Marie Center, Rigshospital, Copenhagen, Denmark; Pediatric Neurology (A.-S.S., B.C.), Department of Neurology (A.-S.S., B.C., P.D.J.), Antwerp University Hospital, Antwerp University, Antwerp, Belgium; Epilepsy Research Centre (S.B.H., S.M., I.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Great Ormond Street Hospital (C.E.), London; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Child Neurology and Neurorehabilitation Unit (G.C., M.A.), Department of Pediatrics, Central Hospital of Bolzano; Neurology Unit and laboratories (T.P., R.G., C.M.), A. Meyer Children's Hospital, Florence; Child Neuropsychiatry Unit (L.G.), Spedali Civili, Brescia, Italy; Pädiatrie I (K.R., E.H.), Division of Pediatric Neurology, University Hospital Innsbruck, Austria; University Hospital Essen (B.A.), University Duisburg-Essen; Department of Paediatric Neurology and Developmental Medicine (A.B.), University Children's Hospital Tübingen, Eberhard Karls University of Tübingen; Center for Child Neurology (I.B.), Sana Krankenhaus Gerresheim, Düsseldorf; Department of Neuropediatrics (S.S.), Hospital for Children and Adolescents, University of Leipzig, Germany; Department of Neurology (B.S., A.P.), Boston Children's Hospital, Harvard School of Medicine; Department of Biology (B.S.), Brandeis U

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http://dx.doi.org/10.1212/01.wnl.0000435296.72400.a1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812107PMC
November 2013

Hypocretin-1 deficiency in a girl with ROHHAD syndrome.

Pediatrics 2013 Sep 12;132(3):e788-92. Epub 2013 Aug 12.

Pediatric Sleep Centre, Centre for Neurophysiological Monitoring Unit, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1542/peds.2012-3225DOI Listing
September 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

Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy.

Hum Gene Ther 2013 Feb;24(2):209-19

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

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http://dx.doi.org/10.1089/hum.2012.107DOI Listing
February 2013

Expanding the spectrum of MERS type 2 lesions, a particular form of encephalitis.

Pediatr Neurol 2013 Feb;48(2):135-8

Department of Pediatric Neurology, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.10.003DOI Listing
February 2013

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.

Eur J Paediatr Neurol 2012 Nov 6;16(6):730-5. Epub 2012 Mar 6.

Department of Neurology and Child Neurology, Hospital Sint-Jan, Ruddershove 10, 8000 Bruges, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2012.02.003DOI Listing
November 2012

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

Eur J Hum Genet 2012 Sep 14;20(9):945-52. Epub 2012 Mar 14.

Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.

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http://www.nature.com/articles/ejhg201240
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http://dx.doi.org/10.1038/ejhg.2012.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421125PMC
September 2012

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

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients.

Neuromuscul Disord 2012 Aug 15;22(8):699-711. Epub 2012 May 15.

Peripheral Neuropathy Group, Department of Molecular Genetics, VIB and University of Antwerp, Antwerpen 2610, Belgium.

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http://dx.doi.org/10.1016/j.nmd.2012.04.005DOI Listing
August 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

Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise.

Eur J Appl Physiol 2012 Jun 28;112(6):2369-74. Epub 2011 Sep 28.

Department of Health and Movement Sciences, Faculty of Medicine and Health Science, Ghent University, Ghent, Belgium.

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http://link.springer.com/10.1007/s00421-011-2183-x
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http://dx.doi.org/10.1007/s00421-011-2183-xDOI Listing
June 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Hashimoto encephalopathy and antibodies against dimethylargininase-1: a rare cause of cognitive decline in a pediatric Down's syndrome patient.

Clin Neurol Neurosurg 2011 Oct 14;113(8):678-9. Epub 2011 May 14.

Department of Pediatric Neurology, Ghent University Hospital, De Pintelaan 185, B-9000 Gent, Belgium.

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http://dx.doi.org/10.1016/j.clineuro.2011.04.004DOI Listing
October 2011

Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation.

Mitochondrion 2011 Jul 6;11(4):626-9. Epub 2011 Apr 6.

Laboratory for Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Harelbekestraat 72, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.mito.2011.03.123DOI Listing
July 2011

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

Palatal insufficiency as isolated sign of GQ1b antibody syndrome.

Pediatr Neurol 2011 Apr;44(4):292-4

Department of Pediatric Neurology, Ghent University Hospital, Ghent, Belgium.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994100052
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http://dx.doi.org/10.1016/j.pediatrneurol.2010.11.010DOI Listing
April 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

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Ann Neurol 2010 Aug;68(2):259-63

Department of Pediatrics, Metabolic Center, University Hospital Leuven, Belgium.

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http://dx.doi.org/10.1002/ana.22035DOI Listing
August 2010

Perisylvian polymicrogyria, infantile spasms and arthrogryposis: the severe end of the spectrum of congenital bilateral perisylvian polymicrogyria.

Eur J Paediatr Neurol 2010 May 25;14(3):270-3. Epub 2009 Jun 25.

University Hospital Ghent, Department of Pediatric Neurology, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980900103
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http://dx.doi.org/10.1016/j.ejpn.2009.05.005DOI Listing
May 2010

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Arch Dis Child 2010 Apr;95(4):296-301

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, 128 08 Prague 2, Czech Republic.

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http://dx.doi.org/10.1136/adc.2009.168096DOI Listing
April 2010

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

Eur J Med Genet 2009 Nov-Dec;52(6):398-403. Epub 2009 Sep 16.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.09.002DOI Listing
February 2010

Histochemical methods for the diagnosis of mitochondrial diseases.

Curr Protoc Hum Genet 2009 Oct;Chapter 19:Unit19.2

Department of Pediatrics, Division of Child Neurology and Metabolism, and Neuromuscular Reference Center, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/0471142905.hg1902s63DOI Listing
October 2009

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

Childhood narcolepsy with partial facial cataplexy: a diagnostic dilemma.

Sleep Med 2009 Aug 14;10(7):797-8. Epub 2009 Jan 14.

Department of Child Neurology, Pediatric Sleep Centre, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.sleep.2008.08.005DOI Listing
August 2009

Vagus nerve stimulation for refractory status epilepticus.

Eur J Paediatr Neurol 2009 May 27;13(3):286-9. Epub 2008 Jun 27.

Department of Neurology, Reference Center for Refractory Epilepsy, Ghent University Hospital, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980800106
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http://dx.doi.org/10.1016/j.ejpn.2008.05.004DOI Listing
May 2009

Hippocampal atrophy and developmental regression as first sign of linear scleroderma "en coup de sabre".

Eur J Paediatr Neurol 2008 Nov 22;12(6):508-11. Epub 2008 Jan 22.

Department of Child Neurology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980700230
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http://dx.doi.org/10.1016/j.ejpn.2007.12.001DOI Listing
November 2008

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.

NMR Biomed 2008 Feb;21(2):138-47

Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/nbm.1170DOI Listing
February 2008

Sensory contributions to balance in boys with developmental coordination disorder.

Adapt Phys Activ Q 2008 Jan;25(1):17-35

Institute for Biophysical and Clinical Research into Human Movement, Manchester Metropolitan University, UK.

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January 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

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

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency.

Anal Chim Acta 2006 Jul 5;571(2):191-9. Epub 2006 May 5.

Department of Clinical Chemistry, Academic Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.aca.2006.04.079DOI Listing
July 2006

Event rate and event-related potentials in ADHD.

J Child Psychol Psychiatry 2006 Jun;47(6):560-7

Department of Experimental-Clinical and Health Psychology, Ghent University, Belgium.

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http://dx.doi.org/10.1111/j.1469-7610.2005.01592.xDOI Listing
June 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

Differences in gait between children with and without developmental coordination disorder.

Motor Control 2006 Apr;10(2):125-42

Dept of Movement and Sports Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.

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April 2006

Profiling of myelin proteins by 2D-gel electrophoresis and multidimensional liquid chromatography coupled to MALDI TOF-TOF mass spectrometry.

J Proteome Res 2005 Nov-Dec;4(6):2283-93

Laboratory of Protein Biochemistry and Protein Engineering, Ghent University, Belgium.

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http://dx.doi.org/10.1021/pr050205cDOI Listing
February 2006

Neuroradiologic findings in a young patient with characteristics of Sturge-Weber syndrome and Klippel-Trenaunay syndrome.

J Child Neurol 2005 Nov;20(11):911-3

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

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http://journals.sagepub.com/doi/10.1177/08830738050200110901
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http://dx.doi.org/10.1177/08830738050200110901DOI Listing
November 2005