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Rudy Van Coster

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Cas Simons; Jürgen Sperner; Ryan J Taft; Asako Takanohashi; Davide Tonduti; Rudy Van Coster; Marjo S van der Knaap; Ljubica Caldovic; Robert S Chudnow; Joanna Crawford; Joseph M Devaney; Sean M Grimmond; Jill Kisler; Lieven Lagae; Nathan McNeil; David Miller; Kelin Ru; Raphael Schiffmann; Johanna L Schmidt; Nicole I Wolf; Adeline Vanderver
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum.
Stéphanie Blockhuys; Marc Bracke; Boel De Paepe; Joél Smet; Rudy Van Coster; Barbara W Vanhoecke; Carlos De Wagter
Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells.
Anneleen Notebaert; Rudy Van Coster; Line Coucke; Jef Willems; Helene Verhelst
Expanding the spectrum of MERS type 2 lesions, a particular form of encephalitis.

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2013: Cas Simons; Jürgen Sperner; Ryan J Taft; Asako Takanohashi; Davide Tonduti; Rudy Van Coster; Marjo S van der Knaap; Ljubica Caldovic; Robert S Chudnow; Joanna Crawford; Joseph M Devaney; Sean M Grimmond; Jill Kisler; Lieven Lagae; Nathan McNeil; David Miller; Kelin Ru; Raphael Schiffmann; Johanna L Schmidt; Nicole I Wolf; Adeline Vanderver
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum.
American journal of human genetics 2013;92(5):767-73.
2013: Stéphanie Blockhuys; Marc Bracke; Boel De Paepe; Joél Smet; Rudy Van Coster; Barbara W Vanhoecke; Carlos De Wagter
Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells.
Radiation research 2013;179(4):433-43.
2013: Anneleen Notebaert; Rudy Van Coster; Line Coucke; Jef Willems; Helene Verhelst
Expanding the spectrum of MERS type 2 lesions, a particular form of encephalitis.
Pediatric neurology 2013;48(2):135-8.
2013: Silke Mussche; Sahana Nagabhushan Kalburgi; R Jude Samulski; Hung-Jui Shih; Rudy Van Coster; Lavanya Bachaboina; Bart Devreese; Jonathan C Fox; Steven J Gray
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy.
Human gene therapy 2013;24(2):209-19.
2012: Marc D'Hooghe; Geert Mortier; Dominik Selleslag; Rudy Van Coster; Pieter Vermeersch; Johan Billiet; Soumeya Bekri
X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2012;16(6):730-5.
2012: Boel De Paepe; Dieter Deforce; Willy Lissens; Richard J Rodenburg; Sara Seneca; Joél Smet; Mado Vandewoestyne; Arnaud Vanlander; Linda De Meirleir; Rudy Van Coster
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.
Pediatric research 2012;72(3):232-40.
2012: Madalina Raducu; Rudy Van Coster; Jonathan Baets; Oihane Fano; Jesús Cruces
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
European journal of human genetics : EJHG 2012;20(9):945-52.
2012: Emmanuel Scalais; Patrick Schlesser; Sara Seneca; Rene Stevens; Rudy Van Coster; Gert Van Goethem; Baudouin Francois; Ann Löfgren; Jean-Jacques Martin; C Nuttin; Frank Roels; Linda De Meirleir
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2012;16(5):542-8.
2012: C Vilain; M Abramowicz; Alec Aeby; D Balériaux; G Remiche; C Rens; Joél Smet; Patrick Van Bogaert; Rudy Van Coster; Isabelle Pirson
A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
Clinical genetics 2012;82(3):264-70.
2012: Silke Mussche; Vedrana Milic Rasic; Joél Smet; Boel De Paepe; Bart Devreese; Katrien Devreese; Willy Lissens; Matthew Murnane; Rudy Van Coster
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms.
Muscle & nerve 2012;46(2):246-56.
2012: Mado Vandewoestyne; Stefanie De Gheselle; Petra De Sutter; Jan Gerris; Björn Heindryckx; Trees Lepez; Jitesh Neupane; Rudy Van Coster; Dieter Deforce
Poor correlation between polar bodies and blastomere mutation load in a patient with m.3243A>G tRNALeu(UUR) point mutation.
Mitochondrion 2012;12(4):477-9.
2012: Bert Celie; Rudy Van Coster; Jan Boone; Jan Bourgois
Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise.
European journal of applied physiology 2012;112(6):2369-74.
2011: Mado Vandewoestyne; Björn Heindryckx; Trees Lepez; Rudy Van Coster; Jan Gerris; Petra De Sutter; Dieter Deforce
Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation.
Mitochondrion 2011;11(4):626-9.
2011: Joél Smet; Linda De Meirleir; Boel De Paepe; Vineta Fellman; Heike Kotarsky; Willy Lissens; Sara Seneca; Rudy Van Coster
Complex III staining in blue native polyacrylamide gels.
Journal of inherited metabolic disease 2011;34(3):741-7.
2011: Helene Verhelst; Michaela Maes; Karel Deblaere; Rudy Van Coster
Palatal insufficiency as isolated sign of GQ1b antibody syndrome.
Pediatric neurology 2011;44(4):292-4.
2011: Helene Verhelst; Patrick Verloo; Karlien Dhondt; Boel De Paepe; Björn Menten; Josep Dalmau; Rudy Van Coster
Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011;15(2):163-6.
2010: Karen Buysse; Sarah Vergult; Silke Mussche; Chantal Ceuterick-de Groote; Frank Speleman; Björn Menten; Willy Lissens; Rudy Van Coster
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.
American journal of medical genetics. Part A 2010;152A(11):2802-4.
2010: Luc Régal; Merel S Ebberink; Nathalie Goemans; Ronald J A Wanders; Linda De Meirleir; Jacques Jaeken; Maarten Schrooten; Rudy Van Coster; Hans R Waterham
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Annals of neurology 2010;68(2):259-63.
2010: H Kotarsky; Riitta Karikoski; Matthias Mörgelin; Sanna Marjavaara; Petra Bergman; De-Liang Zhang; Joél Smet; Rudy Van Coster; Vineta Fellman
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.
Mitochondrion 2010;10(5):497-509.
2010: Anja De Coene; Rudy Van Coster; Helene Verhelst
Perisylvian polymicrogyria, infantile spasms and arthrogryposis: the severe end of the spectrum of congenital bilateral perisylvian polymicrogyria.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2010;14(3):270-3.
2010: Tomás Honzík; Markéta Tesarová; Johannes A Mayr; Hana Hansíková; Pavel Jesina; Olaf Bodamer; Johannes Koch; Martin Magner; Peter Freisinger; Martina Huemer; Olga Kostková; Rudy Van Coster; Stanislav Kmoch; Josef Houstêk; Wolfgang Sperl; Jirí Zeman
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Archives of disease in childhood 2010;95(4):296-301.
2010: Ann Meulemans; Sara Seneca; Thomas Pribyl; Joel Smet; Valerie Alderweirldt; Anouk Waeytens; Willy Lissens; Rudy Van Coster; Linda De Meirleir; Jean-Paul di Rago; Domenico L Gatti; Sharon H Ackerman
Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model.
The Journal of biological chemistry 2010;285(6):4099-109.
2009: Karen Buysse; Barbara Delle Chiaie; Rudy Van Coster; Bart Loeys; Anne De Paepe; Geert R Mortier; Frank Speleman; Björn Menten
Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.
European journal of medical genetics 2009;52(6):398-403.
2009: Joél Smet; Sara Seneca; Boel De Paepe; Ann Meulemans; Helene Verhelst; Jules Leroy; Linda De Meirleir; Willy Lissens; Rudy Van Coster
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
Electrophoresis 2009;30(20):3565-72.
2009: Boel De Paepe; Jan L De Bleecker; Rudy Van Coster
Histochemical methods for the diagnosis of mitochondrial diseases.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2009;Chapter 19():Unit19.2.
2009: Alexandra Zecic; Joél E Smet; Claudine M De Praeter; Piet Vanhaesebrouck; Carlo Viscomi; Caroline Van den Broecke; Boel De Paepe; Peter Lohse; Jean-Jacques Martin; Joshua G Jackson; Colin R Campbell; Linda De Meirleir; Massimo Zeviani; Sara Seneca; Willy Lissens; Rudy Van Coster
Lactic acidosis in a newborn with adrenal calcifications.
Pediatric research 2009;66(3):317-22.
2009: Karlien Dhondt; Helene Verhelst; Dirk Pevernagie; Florence Slap; Rudy Van Coster
Childhood narcolepsy with partial facial cataplexy: a diagnostic dilemma.
Sleep medicine 2009;10(7):797-8.
2009: S Van Biervliet; P Verloo; S Vande Veldel; Myriam Van Winckel; Joél Smet; S Seneca; L De Meirleir; Rudy Van Coster
Abdominal pain and vomiting as first sign of mitochondrial disease.
Acta gastro-enterologica Belgica 2009;72(3):365-8.
2009: Vanessa A Morais; Patrik Verstreken; Anne Roethig; Joél Smet; An Snellinx; Mieke Vanbrabant; Dominik Haddad; Christian Frezza; Wim Mandemakers; Daniela Vogt Weisenhorn; Rudy Van Coster; Wolfgang Wurst; LUCA SCORRANO; Bart De Strooper
Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function.
EMBO molecular medicine 2009;1(2):99-111.
2009: Veerle De Herdt; Liesbeth Waterschoot; Kristl Vonck; Bart Dermaut; Helene Verhelst; Rudy Van Coster; Annick De Jaeger; Dirk Van Roost; Paul Boon
Vagus nerve stimulation for refractory status epilepticus.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009;13(3):286-9.
2009: Boel De Paepe; Joél Smet; M Lammens; Sara Seneca; Jean-Jacques Martin; Jan L De Bleecker; Linda De Meirleir; Willy Lissens; Rudy Van Coster
Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.
Journal of clinical pathology 2009;62(2):172-6.
2009: Frank Roels; Patrick Verloo; François Eyskens; Baudouin François; Sara Seneca; Boel De Paepe; Jean-Jacques Martin; Valerie Meersschaut; Marleen Praet; Emmanuel Scalais; Marc Espeel; Joél Smet; Gert Van Goethem; Rudy Van Coster
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.
BMC clinical pathology 2009;9():4.
2008: Helene Verhelst; Hilde Beele; Rik Joos; Benedicte Vanneuville; Rudy Van Coster
Hippocampal atrophy and developmental regression as first sign of linear scleroderma "en coup de sabre".
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008;12(6):508-11.
2008: Udo F H Engelke; Jörn Oliver Sass; Rudy Van Coster; Erik Gerlo; Heike Olbrich; Stefan Krywawych; Jacqui Calvin; Claire Hart; Heymut Omran; Ron A Wevers
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
NMR in biomedicine 2008;21(2):138-47.
2008: Frederik J A Deconinck; Dirk De Clercq; Rudy Van Coster; Ann Ooostra; Griet Dewitte; Geert J P Savelsbergh; Dirk Cambier; Matthieu Lenoir
Sensory contributions to balance in boys with developmental coordination disorder.
Adapted physical activity quarterly : APAQ 2008;25(1):17-35.
2007: Ann Meulemans; Erik Gerlo; Sara Seneca; Willy Lissens; Joél Smet; Rudy Van Coster; Linda De Meirleir
The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.
Acta neurologica Belgica 2007;107(3):78-83.
2007: Ann Meulemans; Boel De Paepe; Jan L De Bleecker; Joél Smet; Willy Lissens; Rudy Van Coster; Linda De Meirleir; Sara Seneca
Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.
Archives of neurology 2007;64(9):1339-43.
2007: Helene Verhelst; Rudy Van Coster; N Bockaert; Geneviève Laureys; S Latour; A Fischer; Filomeen Haerynck
Limbic encephalitis as presentation of a SAP deficiency.
Neurology 2007;69(2):218-9.
2007: Gert C Scheper; Thom van der Klok; Rob J van Andel; Carola G M van Berkel; Marie Sissler; Joél Smet; Tatjana I Muravina; Sergey V Serkov; Graziella Uziel; Marianna Bugiani; Raphael Schiffmann; Ingeborg Krägeloh-Mann; Jan A M Smeitink; Catherine Florentz; Rudy Van Coster; Jan C Pronk; Marjo S van der Knaap
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Nature genetics 2007;39(4):534-9.
2007: Rudy Van Coster; Joél Smet
[Application of new techniques for locating the underlying molecular defects in patients with disorders of oxidative phosphorylation].
Verhandelingen - Koninklijke Academie voor Geneeskunde van België 2007;69(4):197-211.
2007: Ann Meulemans; Sara Seneca; Joél Smet; Boel De Paepe; Willy Lissens; Rudy Van Coster; Anne Debeer; Linda De Meirleir; Jaak Jaeken
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2007;11(1):17-20.
2006: F J A Deconinck; Dirk De Clercq; Geert J P Savelsbergh; Rudy Van Coster; Ann Oostra; G Dewitte; Matthieu Lenoir
Visual contribution to walking in children with Developmental Coordination Disorder.
Child: care, health and development 2006;32(6):711-22.
2006: Ann Meulemans; Sara Seneca; Lieven Lagae; Willy Lissens; Boel De Paepe; Joél Smet; Rudy Van Coster; Linda De Meirleir
A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.
Archives of neurology 2006;63(8):1194-8.
2006: Erik Gerlo; Rudy Van Coster; Willy Lissens; Gerda Winckelmans; Linda De Meirleir; Ron A Wevers
Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency.
Analytica chimica acta 2006;571(2):191-9.
2006: Charlotte Matthys; Geert Claeys; Gerda Verschraegen; Georges Wauters; Dirk Vogelaers; Thierry de Baere; Rita Verhelst; Guido Van Nooten; Rudy Van Coster; Mario Vaneechoutte
Streptococcus cristatus isolated from a resected heart valve and blood cultures: case reports and application of phenotypic and genotypic techniques for identification.
Acta clinica Belgica 2006;61(4):196-200.
2006: Roeljan Wiersema; Jaap Van der Meere; Herbert Roeyers; Rudy Van Coster; Dieter Baeyens
Event rate and event-related potentials in ADHD.
Journal of child psychology and psychiatry, and allied disciplines 2006;47(6):560-7.
2006: Frederik J A Deconinck; Dirk De Clercq; Geert J P Savelsbergh; Rudy Van Coster; Ann Oostra; Griet Dewitte; Matthieu Lenoir
Differences in gait between children with and without developmental coordination disorder.
Motor control 2006;10(2):125-42.
2006: Reijo Laaksonen; Mikko Katajamaa; Hannu Päivä; Marko Sysi-Aho; Lilli Saarinen; Päivi Junni; Dieter Lütjohann; Joél Smet; Rudy Van Coster; Tuulikki Seppänen-Laakso; Terho Lehtimäki; Juhani T Soini; Matej Oresic
A systems biology strategy reveals biological pathways and plasma biomarker candidates for potentially toxic statin-induced changes in muscle.
PloS one 2006;1():e97.
2006: Boel De Paepe; Joél Smet; Jules G Leroy; Sara Seneca; Edith George; Dirk Matthys; Lionel Van Maldergem; Emmanuel Scalais; Willy Lissens; Linda De Meirleir; Ann Meulemans; Rudy Van Coster
Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects.
Pediatric research 2006;59(1):2-6.
2006: Nele Festjens; Michael Kalai; Joél Smet; Ann Meeus; Rudy Van Coster; Xavier Saelens; Peter Vandenabeele
Butylated hydroxyanisole is more than a reactive oxygen species scavenger.
Cell death and differentiation 2006;13(1):166-9.
2005: Rudy Van Coster; Erik Gerlo; Thierry Giardina; Udo F H Engelke; Joél Smet; Claudine De Praeter; V A Meersschaut; Linda De Meirleir; Sara Seneca; Bart Devreese; Jules G Leroy; S Herga; Josette Perrier; Ron A Wevers; Willy Lissens
Aminoacylase I deficiency: a novel inborn error of metabolism.
Biochemical and biophysical research communications 2005;338(3):1322-6.
2005: Helene Verhelst; Rudy Van Coster
Neuroradiologic findings in a young patient with characteristics of Sturge-Weber syndrome and Klippel-Trenaunay syndrome.
Journal of child neurology 2005;20(11):911-3.
2005: Frank Vanrobaeys; Rudy Van Coster; Goedele Dhondt; Bart Devreese; Jozef Van Beeumen
Profiling of myelin proteins by 2D-gel electrophoresis and multidimensional liquid chromatography coupled to MALDI TOF-TOF mass spectrometry.
Journal of proteome research 2005;4(6):2283-93.
2005: Sara Seneca; Nathalie Goemans; Rudy Van Coster; Patrice Givron; Tony Reybrouck; Raf Sciot; Ann Meulemans; Joél Smet; Johan L K Van Hove
A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.
American journal of medical genetics. Part A 2005;137(2):170-5.
2005: Hannu Päivä; Karin M Thelen; Rudy Van Coster; Joél Smet; Boel De Paepe; Kari M Mattila; Juha Laakso; Terho Lehtimäki; Klaus Von Bergmann; Dieter Lütjohann; Reijo Laaksonen
High-dose statins and skeletal muscle metabolism in humans: a randomized, controlled trial.
Clinical pharmacology and therapeutics 2005;78(1):60-8.
2005: John Van Borsel; Elke Geirnaert; Rudy Van Coster
Another case of word-final disfluencies.
Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP) 2005;57(3):148-62.
2005: Kristel De Keyzer; Ivo Corthouts; Rudy Van Coster; Helene Verhelst
Hot-water epilepsy: a new Caucasian case.
European journal of pediatrics 2005;164(3):184-5.
2004: Katleen De Preter; Jo Vandesompele; Jasmien Hoebeeck; Caroline Vandenbroecke; Joél Smet; Annick Nuyts; Geneviève Laureys; Valérie Combaret; Nadine Van Roy; Frank Roels; Rudy Van Coster; Marleen Praet; Anne De Paepe; Frank Speleman
No evidence for involvement of SDHD in neuroblastoma pathogenesis.
BMC cancer 2004;4():55.
2004: M Vanderborght; Marie-Cécile Nassogne; D Hermans; S Moniotte; Sara Seneca; Rudy Van Coster; Jean-Paul Buts; Etienne M Sokal
Intractable ulcerative colitis of infancy in a child with mitochondrial respiratory chain disorder.
Journal of pediatric gastroenterology and nutrition 2004;38(3):355-7.
2004: Linda De Meirleir; Sara Seneca; Willy Lissens; I De Clercq; F Eyskens; Erik Gerlo; Joél Smet; Rudy Van Coster
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
Journal of medical genetics 2004;41(2):120-4.
2004: Ann Meulemans; Willy Lissens; Rudy Van Coster; Linda De Meirleir; Joél Smet; Marie-Cécile Nassogne; Inge Liebaers; Sara Seneca
Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2004;8(6):299-306.
2003: Marjo S van der Knaap; Carola G M van Berkel; Jochen Herms; Rudy Van Coster; Martina Baethmann; Sakkubai Naidu; Eugen Boltshauser; Michèl A A P Willemsen; Barbara Plecko; Georg F Hoffmann; Christopher G Proud; Gert C Scheper; Jan C Pronk
eIF2B-related disorders: antenatal onset and involvement of multiple organs.
American journal of human genetics 2003;73(5):1199-207.
2003: Linda De Meirleir; Sara Seneca; Eliane Damis; Brigitte Sepulchre; Anne Hoorens; Erik Gerlo; M Teres García Silva; Elena Martín Hernandez; Willy Lissens; Rudy Van Coster
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
American journal of medical genetics. Part A 2003;121A(2):126-31.
2003: Rudy Van Coster; Sara Seneca; Joél Smet; R Van Hecke; Erik Gerlo; Bart Devreese; Jozef Van Beeumen; Jules G Leroy; Linda De Meirleir; Willy Lissens
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.
American journal of medical genetics. Part A 2003;120A(1):13-8.
2003: Kiyomi Taniguchi; Kazuhiro Kobayashi; Kayoko Saito; Hideo Yamanouchi; Akira Ohnuma; Yukiko K Hayashi; Hiroshi Manya; Dong Kyu Jin; Munhyang Lee; Enrico Parano; Raffaele Falsaperla; Piero Pavone; Rudy Van Coster; Beril Talim; Alice Steinbrecher; Volker Straub; Ichizo Nishino; Haluk Topaloglu; Thomas Voit; Tamao Endo; Tatsushi Toda
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Human molecular genetics 2003;12(5):527-34.
2003: Marjo S van der Knaap; Patrick van der Voorn; Frederik Barkhof; Rudy Van Coster; Ingeborg Krägeloh-Mann; Annette Feigenbaum; Susan Blaser; Johan S H Vles; Peter Rieckmann; Petra J W Pouwels
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.
Annals of neurology 2003;53(2):252-8.
2002: Marjo S van der Knaap; Sakkubai Naidu; Petra J W Pouwels; Simona Bonavita; Rudy Van Coster; Lieven Lagae; Jürgen Sperner; Robert Surtees; Raphael Schiffmann; Jakob Valk
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.
AJNR. American journal of neuroradiology 2002;23(9):1466-74.
2002: Ilona Visapää; Vineta Fellman; Jouni Vesa; Ayan Dasvarma; Jenna L Hutton; Vijay Kumar; Gregory S Payne; Marja Makarow; Rudy Van Coster; Robert W Taylor; Douglass M Turnbull; Anu Suomalainen; Leena Peltonen
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
American journal of human genetics 2002;71(4):863-76.
2002: Bart Devreese; Frank Vanrobaeys; Joél Smet; Jozef Van Beeumen; Rudy Van Coster
Mass spectrometric identification of mitochondrial oxidative phosphorylation subunits separated by two-dimensional blue-native polyacrylamide gel electrophoresis.
Electrophoresis 2002;23(15):2525-33.
2002: Catharina Dhooge; Rudy Van Coster; Annick de Jaeger; Els Vandecruys; Geneviève Laureys; Bart Vanzieleghem
Meningeal carcinomatosis in a child with Ewing sarcoma.
Medical and pediatric oncology 2002;38(4):297-9.
2002: Karen Pien; Bruno van Vlem; Rudy Van Coster; Georges Dacremont; Michel H A Piette
An inherited metabolic disorder presenting as ethylene glycol intoxication in a young adult.
The American journal of forensic medicine and pathology 2002;23(1):96-100.
2001: Rudy Van Coster; Joél Smet; E George; Linda De Meirleir; Sara Seneca; Johan L K Van Hove; G Sebire; Helene Verhelst; Jan L De Bleecker; Bruno van Vlem; P Verloo; J Leroy
Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.
Pediatric research 2001;50(5):658-65.
2001: J Thijs; Helene Verhelst; Rudy Van Coster
Retrospective study of topiramate in a paediatric population with intractable epilepsy showing promising effects in the West syndrome patients.
Acta neurologica Belgica 2001;101(3):171-6.
2001: Sara Seneca; Helene Verhelst; Linda De Meirleir; F Meire; Chantal Ceuterick-de Groote; Willy Lissens; Rudy Van Coster
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.
Archives of neurology 2001;58(7):1113-8.
2001: Jules G Leroy; R Seppala; Marjan Huizing; Georges Dacremont; H De Simpel; Rudy Van Coster; Eduard Orvisky; Donna Krasnewich; William A Gahl
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
American journal of human genetics 2001;68(6):1419-27.
2001: Marjo S van der Knaap; Sakkubai Naidu; S N Breiter; S Blaser; H Stroink; S Springer; J C Begeer; Rudy Van Coster; Peter G Barth; N H Thomas; Jakob Valk; J M Powers
Alexander disease: diagnosis with MR imaging.
AJNR. American journal of neuroradiology 2001;22(3):541-52.
2000: Sara Seneca; C Ceuterik-De Groote; Rudy Van Coster; Linda De Meirleir
A novel mitochondrial transfer RNA proline mutation.
Journal of inherited metabolic disease 2000;23(8):853-4.
2000: Rudy Van Coster; Linda De Meirleir
Mitochondrial cytopathies and neuromuscular disorders.
Acta neurologica Belgica 2000;100(3):156-61.
2000: S M S Budde; Lambert P van den Heuvel; Antoon J M Janssen; Roel Smeets; CA Buskens; L DeMeirleir; Rudy Van Coster; M Baethmann; Thomas Voit; J M F Trijbels; Jan A M Smeitink
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
Biochemical and biophysical research communications 2000;275(1):63-8.
2000: Helene Verhelst; A Lofgren; Rudy Van Coster
A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(5):235-8.
1999: Bart Loeys; Rudy Van Coster; L R Defreyne; Jules G Leroy
Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.
European journal of pediatrics 1999;158(8):650-2.
1999: BD Vanzieleghem; Marc Lemmerling; Rudy Van Coster
Neurocutaneous melanosis presenting with intracranial amelanotic melanoma.
AJNR. American journal of neuroradiology 1999;20(3):457-60.
1998: Rudy Van Coster; S Janssens; J P Misson; Alain Verloes; Jules G Leroy
Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.
Prenatal diagnosis 1998;18(10):1041-4.
1998: Rudy Van Coster; Claudine De Praeter; Piet Vanhaesebrouck; Jules G Leroy
MRI findings in a neonate with cerebellar agenesis.
Pediatric neurology 1998;19(2):139-42.
1996: S G Van Daele; Rudy Van Coster; Françoise Meire; A M Smets; Jules G Leroy
Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.
American journal of medical genetics 1996;65(3):205-8.
1991: C Elewaut; Françoise Meire; Rudy Van Coster; J Van Egmond
Optic atrophy as a complication of neonatal alloimmune thrombocytopenia.
Bulletin de la Société belge d'ophtalmologie 1991;241():85-8.