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Displaying 7 results.
    • Speech
    Monocarboxylate transporter 1 deficiency : a novel heterozygous mutation resulting in acute ketoacidosis
    Paquay, Stéphanie[UCL] Sass, Jörn Oliver Finckh, Ulrich Melchior, Marie Gobert, Cyrielle Sznajer, Yves Nassogne, Marie-Cécile[UCL] (2016) Society for the Study of Inborn Errors of Metabolism — Rome, Italy
    • Journal article
    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
    Jansen, Jos C. Cirak, Sebahattin van Scherpenzeel, Monique Timal, Sharita Reunert, Janine Rust, Stephan Pérez, Belén Vicogne, Dorothée Krawitz, Peter Wada, Yoshinao Ashikov, Angel Pérez-Cerdá, Celia Medrano, Celia Arnoldy, Andrea Hoischen, Alexander Huijben, Karin Steenbergen, Gerry Quelhas, Dulce Diogo, Luisa Rymen, Daisy Jaeken, Jaak Guffon, Nathalie Cheillan, David van den Heuvel, Lambertus P. Maeda, Yusuke Kaiser, Olaf Schara, Ulrike Gerner, Patrick van den Boogert, Marjolein A.W. Holleboom, Adriaan G. Nassogne, Marie-Cécile[UCL] Sokal, Etienne[UCL] Salomon, Jody van den Bogaart, Geert Drenth, Joost P.H. Huynen, Martijn A. Veltman, Joris A. Wevers, Ron A. Morava, Eva Matthijs, Gert Foulquier, François Marquardt, Thorsten Lefeber, Dirk J. (2016) American Journal of Human Genetics — Vol. 98, no.2, p. 310-321 (2016)
    • Journal article
    Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation
    Delmelle, Françoise[UCL] Thöny, Beat Clapuyt, Philippe[UCL] Blau, Nenad Nassogne, Marie-Cécile[UCL] (2016) European Journal of Paediatric Neurology — Vol. 20, no.5, p. 709-713 (2016)
    • Journal article
    Unusual association between lysinuric protein intolerance and moyamoya vasculopathy
    Ghilain, Valérie[UCL] Wiame, Elsa[UCL] Fomekong, Edward[UCL] Vincent, Marie-Françoise[UCL] Dumitriu, Dana Loana[UCL] Nassogne, Marie-Cécile[UCL] (2016) European Journal of Paediatric Neurology — Vol. 20, no. 5, p. 777-781 (2016)
    • Journal article
    Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum
    Smogavec, Mateja Cleall, Alison Hoyer, Juliane Lederer, Damien Nassogne, Marie-Cécile[UCL] Palmer, Elizabeth E Deprez, Marie Benoit, Valérie Maystadt, Isabelle Noakes, Charlotte Leal, Alejandro Shaw, Marie Gecz, Jozef Raymond, Lucy Reis, André Shears, Deborah Brockmann, Knut Zweier, Christiane (2016) Journal of Medical Genetics — Vol. 53, no. 12, p. 820-827 (2016)
    • Journal article
    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)
    • Journal article
    Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat, Stéphanie Désir, Julie Benoit, Valérie Boulanger, Sébastien Pendeville, Hélène Nassogne, Marie-Cécile[UCL] Lederer, Damien Maystadt, Isabelle (2016) American Journal of Medical Genetics. Part A — Vol. 170, no.11, p. 2927-2933 (2016)