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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Author / Creator:Coughlin, Curtis R ; Scharer, Gunter H ; Friederich, Marisa W ; Yu, Hung-Chun ; Geiger, Elizabeth A ; Creadon-Swindell, Geralyn ; Collins, Abigail E ; Vanlander, Arnaud V ; Coster, Rudy Van ; Powell, Christopher A ; Swanson, Michael A ; Minczuk, Michal ; Van Hove, Johan L K ; Shaikh, Tamim H
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-08, Vol.52 (8), p.532-540
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Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis
Author / Creator:De Vriese, An S. ; Van Coster, Rudy ; Smet, Joél ; Seneca, Sara ; Lovering, Andrew ; Van Haute, Lindsey L. ; Vanopdenbosch, Ludo J. ; Martin, Jean-Jacques ; Ceuterick-de Groote, Chantal ; Vandecasteele, Stefaan ; Boelaert, Johan R.
Publisher:United States: The University of Chicago Press
Journal title:Clinical infectious diseases, 2006-04, Vol.42 (8), p.1111-1117
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Characteristics, Early Development and Outcome of Parent-Reported Regression in Autism Spectrum Disorder
Author / Creator:Boterberg, Sofie ; Van Coster, Rudy ; Roeyers, Herbert
Publisher:New York: Springer US
Journal title:Journal of autism and developmental disorders, 2019-11, Vol.49 (11), p.4603-4625
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Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression
Author / Creator:Boterberg, Sofie ; Vantroys, Elise ; De Paepe, Boel ; Van Coster, Rudy ; Roeyers, Herbert
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2022-09, Vol.17 (9), p.e0274310-e0274310
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Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression
Author / Creator:Sofie Boterberg ; Elise Vantroys ; Boel De Paepe ; Rudy Van Coster ; Herbert Roeyers
Publisher:Public Library of Science (PLoS)
Journal title:PloS one, 2022-09, Vol.17 (9), p.e0274310
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POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism
Author / Creator:Van Maldergem, Lionel ; Besse, Arnaud ; De Paepe, Boel ; Blakely, Emma L. ; Appadurai, Vivek ; Humble, Margaret M. ; Piard, Juliette ; Craig, Kate ; He, Langping ; Hella, Pierre ; Debray, François‐Guillaume ; Martin, Jean‐Jacques ; Gaussen, Marion ; Laloux, Patrice ; Stevanin, Giovanni ; Van Coster, Rudy ; Taylor, Robert W. ; Copeland, William C. ; Mormont, Eric ; Bonnen, Penelope E.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2017-01, Vol.4 (1), p.4-14
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Hashimoto encephalopathy and antibodies against dimethylargininase-1: A rare cause of cognitive decline in a pediatric Down's syndrome patient
Author / Creator:Helene, Verhelst ; Patrick, Verloo ; Boel, De Paepe ; Gini, Beatrice ; Bruno, Bonetti ; Rudy, Van Coster
Publisher:Amsterdam: Elsevier B.V
Journal title:Clinical neurology and neurosurgery, 2011-10, Vol.113 (8), p.678-679
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The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
Author / Creator:Dewaele, Shanna ; Delhaye, Louis ; De Paepe, Boel ; de Bony, Eric James ; De Wilde, Jilke ; Vanderheyden, Katrien ; Anckaert, Jasper ; Yigit, Nurten ; Nuytens, Justine ; Vanden Eynde, Eveline ; Smet, Joél ; Verschoore, Maxime ; Nemati, Fariba ; Decaudin, Didier ; Rodrigues, Manuel ; Zhao, Peihua ; Jochemsen, Aart ; Leucci, Eleonora ; Vandesompele, Jo ; Van Dorpe, Jo ; Marine, Jean-Christophe ; Van Coster, Rudy ; Eyckerman, Sven ; Mestdagh, Pieter
Publisher:London: Nature Publishing Group UK
Journal title:Oncogene, 2022-01, Vol.41 (1), p.15-25
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Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function
Author / Creator:Morais, Vanessa A. ; Verstreken, Patrik ; Roethig, Anne ; Smet, Joél ; Snellinx, An ; Vanbrabant, Mieke ; Haddad, Dominik ; Frezza, Christian ; Mandemakers, Wim ; Vogt‐Weisenhorn, Daniela ; Van Coster, Rudy ; Wurst, Wolfgang ; Scorrano, Luca ; De Strooper, Bart
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2009-05, Vol.1 (2), p.99-111
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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
Author / Creator:Schuermans, Nika ; Hemelsoet, Dimitri ; Terryn, Wim ; Steyaert, Sanne ; Van Coster, Rudy ; Coucke, Paul J ; Steyaert, Wouter ; Callewaert, Bert ; Bogaert, Elke ; Verloo, Patrick ; Vanlander, Arnaud V ; Debackere, Elke ; Ghijsels, Jody ; LeBlanc, Pontus ; Verdin, Hannah ; Naesens, Leslie ; Haerynck, Filomeen ; Callens, Steven ; Dermaut, Bart ; Poppe, Bruce
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-05, Vol.17 (1), p.210-210, Article 210
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Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise
Author / Creator:Celie, Bert ; Boone, Jan ; Van Coster, Rudy ; Bourgois, Jan
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of applied physiology, 2012-06, Vol.112 (6), p.2369-2374
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Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts
Author / Creator:De Samber, Björn ; Meul, Eline ; Laforce, Brecht ; De Paepe, Boel ; Smet, Joél ; De Bruyne, Michiel ; De Rycke, Riet ; Bohic, Sylvain ; Cloetens, Peter ; Van Coster, Rudy ; Vandenabeele, Peter ; Vanden Berghe, Tom
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-01, Vol.13 (1), p.e0190495-e0190495
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Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
Author / Creator:Dewaele, Shanna ; Delhaye, Louis ; De Paepe, Boel ; de Bony, Eric James ; De Wilde, Jilke ; Vanderheyden, Katrien ; Anckaert, Jasper ; Yigit, Nurten ; Nuytens, Justine ; Vanden Eynde, Eveline ; Smet, Joél ; Verschoore, Maxime ; Nemati, Fariba ; Decaudin, Didier ; Rodrigues, Manuel ; Zhao, Peihua ; Jochemsen, Aart ; Leucci, Eleonora ; Vandesompele, Jo ; Van Dorpe, Jo ; Marine, Jean-Christophe ; Van Coster, Rudy ; Eyckerman, Sven ; Mestdagh, Pieter
Publisher:London: Nature Publishing Group UK
Journal title:Oncogene, 2022-01, Vol.41 (1), p.146-146
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A systems biology strategy reveals biological pathways and plasma biomarker candidates for potentially toxic statin-induced changes in muscle
Author / Creator:Laaksonen, Reijo ; Katajamaa, Mikko ; Päivä, Hannu ; Sysi-Aho, Marko ; Saarinen, Lilli ; Junni, Päivi ; Lütjohann, Dieter ; Smet, Joél ; Van Coster, Rudy ; Seppänen-Laakso, Tuulikki ; Lehtimäki, Terho ; Soini, Juhani ; Oresic, Matej
Publisher:United States: Public Library of Science
Journal title:PloS one, 2006-12, Vol.1 (1), p.e97
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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
Author / Creator:Vantroys, Elise ; Smet, Joél ; Vanlander, Arnaud V ; Vergult, Sarah ; De Bruyne, Ruth ; Roels, Frank ; Stepman, Hedwig ; Roeyers, Herbert ; Menten, Björn ; Van Coster, Rudy
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.80-80, Article 80
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
Author / Creator:Debray, François-Guillaume ; Stümpfig, Claudia ; Vanlander, Arnaud V. ; Dideberg, Vinciane ; Josse, Claire ; Caberg, Jean-Hubert ; Boemer, François ; Bours, Vincent ; Stevens, René ; Seneca, Sara ; Smet, Joél ; Lill, Roland ; van Coster, Rudy
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1147-1153
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TMEM70 deficiency: long-term outcome of 48 patients
Author / Creator:Magner, Martin ; Dvorakova, Veronika ; Tesarova, Marketa ; Mazurova, Stella ; Hansikova, Hana ; Zahorec, Martin ; Brennerova, Katarina ; Bzduch, Vladimir ; Spiegel, Ronen ; Horovitz, Yoseph ; Mandel, Hanna ; Eminoğlu, Fatma Tuba ; Mayr, Johannes Adalbert ; Koch, Johannes ; Martinelli, Diego ; Bertini, Enrico ; Konstantopoulou, Vassiliki ; Smet, Joél ; Rahman, Shamima ; Broomfield, Alexander ; Stojanović, Vesna ; Dionisi-Vici, Carlo ; van Coster, Rudy ; Morava-Kozicz, Eva ; Sperl, Wolfgang ; Zeman, Jiri ; Honzik, Tomas
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.417-426
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Lactic Acidosis in a Newborn With Adrenal Calcifications
Author / Creator:Zecic, Alexandra ; Smet, Joél E ; Praeter, Claudine M De ; Vanhaesebrouck, Piet ; Viscomi, Carlo ; Broecke, Caroline Van Den ; Paepe, Boel De ; Lohse, Peter ; Martin, Jean-Jacques ; Jackson, Joshua G ; Campbell, Colin R ; Meirleir, Linda J De ; Zeviani, Massimo ; Seneca, Sara H ; Lissens, Willy ; Coster, Rudy N Van
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2009-09, Vol.66 (3), p.317-322
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A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
Author / Creator:Vancampenhout, Kim ; Caljon, Ben ; Spits, Claudia ; Stouffs, Katrien ; Jonckheere, An ; De Meirleir, Linda ; Lissens, Willy ; Vanlander, Arnaud ; Smet, Joél ; De Paepe, Boel ; Van Coster, Rudy ; Seneca, Sara
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-11, Vol.9 (11), p.e112950-e112950
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ArticlesPeer ReviewedFull Text
Differences in gait between children with and without developmental coordination disorder
Author / Creator:Deconinck, Frederik J A ; De Clercq, Dirk ; Savelsbergh, Geert J P ; Van Coster, Rudy ; Oostra, Ann ; Dewitte, Griet ; Lenoir, Matthiew
Publisher:United States: Human Kinetics
Journal title:Motor control, 2006-04, Vol.10 (2), p.125-142
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Showing 1 to 20 of 46 results

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

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Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis

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

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Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression

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Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression

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POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

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

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The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

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Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

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

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Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts

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Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

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A systems biology strategy reveals biological pathways and plasma biomarker candidates for potentially toxic statin-induced changes in muscle

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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

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

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TMEM70 deficiency: long-term outcome of 48 patients

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Lactic Acidosis in a Newborn With Adrenal Calcifications

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

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Differences in gait between children with and without developmental coordination disorder

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