Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
Ajit Bolar, Nikhita, Vanlander, Arnaud Vincent, Wilbrecht, Claudia, Van der Aa, Nathalie, Smet, Joél, De Paepe, Boel, Vandeweyer, Geert, Kooy, Frank, Eyskens, François, De Latter, Elien, Delanghe, Gwenda, Govaert, Paul, Leroy, Jules Gerard, Loeys, Bart, Lill, Roland, Van Laer, Lut, Van Coster, Rudy
Published in Human molecular genetics (01.07.2013)
Published in Human molecular genetics (01.07.2013)
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Event rate and event-related potentials in ADHD
Wiersema, Roeljan, Van Der Meere, Jaap, Roeyers, Herbert, Van, Coster, Rudy, Baeyens, Dieter
Published in Journal of child psychology and psychiatry (01.06.2006)
Published in Journal of child psychology and psychiatry (01.06.2006)
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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
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
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Journal Article
Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis
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.
Published in Clinical infectious diseases (15.04.2006)
Published in Clinical infectious diseases (15.04.2006)
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Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients
Irobi, Joy, Holmgren, Anne, Winter, Vicky De, Asselbergh, Bob, Gettemans, Jan, Adriaensen, Dirk, Groote, Chantal Ceuterick-de, Coster, Rudy Van, Jonghe, Peter De, Timmerman, Vincent
Published in Neuromuscular disorders : NMD (01.08.2012)
Published in Neuromuscular disorders : NMD (01.08.2012)
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Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression
Boterberg, Sofie, Vantroys, Elise, De Paepe, Boel, Van Coster, Rudy, Roeyers, Herbert
Published in PloS one (09.09.2022)
Published in PloS one (09.09.2022)
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Journal Article
Steroids in intractable childhood epilepsy: Clinical experience and review of the literature
Verhelst, Helene, Boon, Paul, Buyse, Gunnar, Ceulemans, Berten, D’Hooghe, Marc, Meirleir, Linda De, Hasaerts, Danièle, Jansen, An, Lagae, Lieven, Meurs, Alfred, Coster, Rudy Van, Vonck, Kristl
Published in Seizure (London, England) (01.09.2005)
Published in Seizure (London, England) (01.09.2005)
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Journal Article
POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism
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.
Published in Annals of clinical and translational neurology (01.01.2017)
Published in Annals of clinical and translational neurology (01.01.2017)
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Hashimoto encephalopathy and antibodies against dimethylargininase-1: A rare cause of cognitive decline in a pediatric Down's syndrome patient
Helene, Verhelst, Patrick, Verloo, Boel, De Paepe, Gini, Beatrice, Bruno, Bonetti, Rudy, Van Coster
Published in Clinical neurology and neurosurgery (01.10.2011)
Published in Clinical neurology and neurosurgery (01.10.2011)
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Journal Article
Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
Kumps, Candy, D'haenens, Erika, Vergult, Sarah, Leus, Jasmine, Coster, Rudy, Jansen, Anna, Devriendt, Koen, Oostra, Anna, Vanakker, Olivier M.
Published in Clinical genetics (01.03.2021)
Published in Clinical genetics (01.03.2021)
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RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
Beijer, Danique, Dohrn, Maike F., Winter, Jonathan, Fazal, Sarah, Cortese, Andrea, Stojkovic, Tanya, Fernández‐Eulate, Gorka, Remiche, Gauthier, Gentile, Mattia, Coster, Rudy, Dufke, Claudia, Synofzik, Matthis, Jonghe, Peter, Züchner, Stephan, Baets, Jonathan
Published in European journal of neurology (01.07.2022)
Published in European journal of neurology (01.07.2022)
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A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
Simons, Cas, Wolf, Nicole I., McNeil, Nathan, Caldovic, Ljubica, Devaney, Joseph M., Takanohashi, Asako, Crawford, Joanna, Ru, Kelin, Grimmond, Sean M., Miller, David, Tonduti, Davide, Schmidt, Johanna L., Chudnow, Robert S., van Coster, Rudy, Lagae, Lieven, Kisler, Jill, Sperner, Jürgen, van der Knaap, Marjo S., Schiffmann, Raphael, Taft, Ryan J., Vanderver, Adeline
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Journal Article
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
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
Published in Oncogene (03.01.2022)
Published in Oncogene (03.01.2022)
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Lactic Acidosis in a Newborn With Adrenal Calcifications
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
Published in Pediatric research (01.09.2009)
Published in Pediatric research (01.09.2009)
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Possible Pathogenic Mechanism of Propofol Infusion Syndrome Involves Coenzyme Q
Vanlander, Arnaud Vincent, Okun, Juergen Guenther, de Jaeger, Annick, Smet, Joél, De Latter, Elien, De Paepe, Boel, Dacremont, Georges, Wuyts, Birgitte, Vanheel, Bert, De Paepe, Peter, Jorens, Philippe Germaine, Van Regenmortel, Niels, Van Coster, Rudy
Published in Anesthesiology (Philadelphia) (01.02.2015)
Published in Anesthesiology (Philadelphia) (01.02.2015)
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