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Affichage: 10 résultats.
    • Article de périodique
    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
    Repp, Birgit M. Mastantuono, Elisa Alston, Charlotte L. Schiff, Manuel Haack, Tobias B. Rötig, Agnes Ardissone, Anna Lombès, Anne Catarino, Claudia B. Diodato, Daria Schottmann, Gudrun Poulton, Joanna Burlina, Alberto Jonckheere, An Munnich, Arnold Rolinski, Boris Ghezzi, Daniele Rokicki, Dariusz Wellesley, Diana Martinelli, Diego Wenhong, Ding Lamantea, Eleonora Ostergaard, Elsebet Pronicka, Ewa Pierre, Germaine Smeets, Hubert J. M. Wittig, Ilka Scurr, Ingrid de Coo, Irenaeus F. M. Moroni, Isabella Smet, Joél Mayr, Johannes A. Dai, Lifang de Meirleir, Linda Schuelke, Markus Zeviani, Massimo Morscher, Raphael J. McFarland, Robert Seneca, Sara Klopstock, Thomas Meitinger, Thomas Wieland, Thomas Strom, Tim M. Herberg, Ulrike Ahting, Uwe Sperl, Wolfgang Nassogne, Marie-Cécile[UCL] Ling, Han Fang, Fang Freisinger, Peter Van Coster, Rudy Strecker, Valentina Taylor, Robert W. Häberle, Johannes Vockley, Jerry Prokisch, Holger Wortmann, Saskia (2018) Orphanet Journal of Rare Diseases — Vol. 13, no. 1, p. 120 [1-10] (2018)
    • Article de périodique
    Blue native polyacrylamide gel electrophoresis: A powerful tool in diagnosis of oxidative phosphorylation defects
    Van Coster, Rudy Smet, Joel George, Edith De Meirleir, Linda Seneca, Sara Van Hove, Johan Sebire, Guillaume[UCL] Verhelst, Helene De Bleecker, Jan Van Vlem, Bruno Verloo, Patrick Leroy, Jules (2001) Pediatric Research : international journal of human developmental biology — Vol. 50, no. 5, p. 658-665 (2001)
    • Article de périodique
    Analysis of the mitochondrial encoded subunits of complex 1 in 20 patients with a complex 1 deficiency
    Meulemans, Ann Lissens, Willy Van Coster, Rudy[UCL] De Meirleir, Linda Smet, Joél Nassogne, Marie-Cécile[UCL] Liebaers, Inge Seneca, Sara (2004) European Journal of Paediatric Neurology — Vol. 8, no. 6, p. 299-306 (2004)
    • Article de périodique
    Streptococcus cristatus isolated from a resected heart valve and blood cultures: case reports and application of phenotypic and genotypic techniques for identification.
    Matthys, Charlotte Claeys, Geert Verschraegen, Gerda Wauters, Georges[UCL] Vogelaers, Dirk De Baere, Thierry Verhelst, Rita Van Nooten, Guido Van Coster, Rudy Vaneechoutte, Mario (2006) Acta clinica Belgica — Vol. 61, no. 4, p. 196-200 (2006)
    • Article de périodique
    Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
    Duerinckx, Sarah Désir, Julie Perazzolo, Camille Badoer, Cindy Jacquemin, Valérie Soblet, Julie Maystadt, Isabelle Tunca, Yusuf Blaumeiser, Bettina Ceulemans, Berten Courtens, Winnie Debray, François-Guillaume Destree, Anne Devriendt, Koenraad Jansen, Anna Keymolen, Kathelijn Lederer, Damien Loeys, Bart Meuwissen, Marije Moortgat, Stéphanie[UCL] Mortier, Geert Nassogne, Marie-Cécile[UCL] Sekhara, Tayeb Van Coster, Rudy Van Den Ende, Jenny Van der Aa, Nathalie Van Esch, Hilde Vanakker, Olivier Verhelst, Helene Vilain, Catheline Weckhuysen, Sarah Passemard, Sandrine Verloes, Alain Aeby, Alec Deconinck, Nicolas Van Bogaert, Patrick Pirson, Isabelle Abramowicz, Marc (2021) Molecular genetics & genomic medicine — Vol. 9, no. 9, p. e1768 [1-19] (2021)
    • Article de périodique
    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[UCL] Stevanin, Giovanni Van Coster, Rudy Taylor, Robert W Copeland, William C Mormont, Eric[UCL] Bonnen, Penelope E (2017) Annals of Clinical and Translational Neurology — Vol. 4, no. 1, p. 4-14 (2017)
    • Article de périodique
    Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients
    Dewulf, Joseph P.[UCL] Barréa, Catherine[UCL] Vincent, Marie-Françoise[UCL] De Laet, Corinne Van Coster, Rudy Seneca, Sara Marie, Sandrine Nassogne, Marie-Cécile[UCL] (2016) Molecular Genetics and Metabolism — Vol. 118, no. 3, p. 185-189 (2016)
    • Article de périodique
    MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
    Verhoeven, Kristien Claeys, Kristl G. Züchner, Stephan Schröder, J. Michael Weis, Joachim Ceuterick, Chantal Jordanova, Albena Nelis, Eva De Vriendt, Els Van Hul, Matthias Seeman, Pavel Mazanec, Radim Saifi, Gulam Mustafa Szigeti, Kinga Mancias, Pedro Butler, Ian J. Kochanski, Andrzej Ryniewicz, Barbara De Bleecker, Jan Van den Bergh, Peter[UCL] Verellen, Christine[UCL] Van Coster, Rudy Goemans, Nathalie Auer-Grumbach, Michaela Robberecht, Wim Milic Rasic, Vedrana Nevo, Yoram Tournev, Ivajlo Guergueltcheva, Velina Roelens, Filip Vieregge, Peter Vinci, Paolo Moreno, Maria Teresa Christen, H.-J. Shy, Michael E. Lupski, James R. Vance, Jeffery M. De Jonghe, Peter Timmerman, Vincent (2006) Brain : a journal of neurology — Vol. 129, no. 8, p. 2093-2102 (2006)
    • Communication
    Three families sharing acyl-coA dehydrogenase 9 deficiency : from severe neonatal cardiomyopathy to ventricular hypertrophy diagnosed at 12 years
    Dewulf, Joseph P.[UCL] Barréa, Catherine[UCL] Vincent, Marie-Francoise[UCL] de laet, corinne Van Coster, Rudy Seneca, Sara Marie, Sandrine[UCL] Nassogne, Marie-Cécile[UCL] (2015) SSIEM — Lyon
    • Communication
    Uncommon Leber "plus" disease associated with mitochondrial m.11778G>A mutation in a premature child
    Paquay, Stéphanie[UCL] Benoit, Valérie Wetzburger, Catherine Cordonnier, Monique Meire, Françoise Charon, Anne Roland, Dominique Van Coster, Rudy Nassogne, Marie-Cécile[UCL] Maystadt, Isabelle (2013) Belgian Society of Pediatric Neurology — Luxembourg