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Displaying 17 results.
    • Journal article
    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
    Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G Nassogne, Marie-Cécile[UCL] Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O M Wilson, Louise Yuen, Amy Study, Ddd Low, Karen J Newbury-Ecob, Ruth A (2018) European Journal of Human Genetics — Vol. 26, no. 1, p. 64-74 (2018)
    • Journal article
    Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
    Hamilton, Eline M C Tekturk, Pinar Cialdella, Fia van Rappard, Diane F Wolf, Nicole I Yalcinkaya, Cengiz Çetinçelik, Ümran Rajaee, Ahmad Kariminejad, Ariana Paprocka, Justyna Yapici, Zuhal Bošnjak, Vlatka Mejaški van der Knaap, Marjo S MLC Research Group Nassogne, Marie-Cécile[UCL] (2018) Neurology — Vol. 90, no. 16, p. e1395-e1403 (2018)
    • Speech
    Succès de la greffe hepatique dans la leucinose selon un protocole belgo-suisse
    ROCK, Nathalie[UCL] McLin, Valérie Stéphenne, Xavier[UCL] Witters, Peter Morava, Eva[UCL] Wildhaber, Barbara De Magnee, Catherine[UCL] Reding, Raymond[UCL] Kern, Ilse Nassogne, Marie-Cécile[UCL] Sokal, Etienne[UCL] (2018) SFEIM (Société Française pour l'Etude des Erreurs Innées du Métabolisme) — Bruxelles, Belgique
    • Journal article
    Hydrocephalus in children under the age of five from diagnosis to short-/medium-/long-term progression: a retrospective review of 142 children.
    Perdaens, Océane[UCL] Koerts, Guus[UCL] Nassogne, Marie-Cécile[UCL] (2018) Acta Neurologica Belgica — Vol. 118, no. 1, p. 97-103 (2018)
    • Journal article
    Pseudotumoral cerebellitis with acute hydrocephalus as a manifestation of EBV infection.
    Geurten, Claire De Bilderling, Georges[UCL] Nassogne, Marie-Cécile[UCL] Misson, Jean-Paul Verghote, Marc (2018) Revue Neurologique — Vol. 174, no. 1-2, p. 70-72 (2018)
    • Journal article
    Lack of response to quinidine in KCNT1-related neonatal epilepsy.
    Numis, Adam L Nair, Umesh Datta, Anita N Sands, Tristan T Oldham, Michael S Patel, Akash Li, Melody Gazina, Elena Petrou, Steven Cilio, Maria-Roberta[UCL] (2018) Epilepsia — Vol. 59, no.10, p. 1889-1898 (2018)
    • Journal article
    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)
    • Journal article
    The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
    Helbig, Ingo Riggs, Erin Rooney Barry, Carrie-Anne Klein, Karl Martin Dyment, David Thaxton, Courtney Sadikovic, Bekim Sands, Tristan T Wagnon, Jacy L Liaquat, Khalida Cilio, Maria-Roberta[UCL] Mirzaa, Ghayda Park, Kristen Axeen, Erika Butler, Elizabeth Bardakjian, Tanya M Striano, Pasquale Poduri, Annapurna Siegert, Rebecca K Grant, Andrew R Helbig, Katherine L Mefford, Heather C (2018) Human mutation — Vol. 39, no.11, p. 1476-1484 (2018)
    • Journal article
    Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of epilepsy.
    Berecki, Géza Howell, Katherine B Deerasooriya, Yadeesha H Cilio, Maria-Roberta[UCL] Oliva, Megan K Kaplan, David Scheffer, Ingrid E Berkovic, Samuel F Petrou, Steven (2018) Proceedings of the National Academy of Sciences of the United States of America — Vol. 115, no.24, p. E5516-E5525 (2018)
    • Journal article
    Anti-streptavidin antibodies mimicking heterophilic antibodies in thyroid function tests.
    Favresse, Julien[UCL] Lardinois, Benjamin[UCL] Nassogne, Marie-Cécile[UCL] Preumont, Vanessa[UCL] Maiter, Dominique[UCL] Gruson, Damien[UCL] (2018) Clinical Chemistry and Laboratory Medicine — Vol. 56, no. 7, p. e160-e163 (2018)
    • Journal article
    Childhood hearing loss is a key feature of CAPOS syndrome: A case report.
    Paquay, Stéphanie[UCL] Wiame, Elsa[UCL] Deggouj, Naima[UCL] Boschi, Antonella[UCL] De Siati, Romolo Daniele[UCL] Sznajer, Yves[UCL] Nassogne, Marie-Cécile[UCL] (2018) International Journal of Pediatric Otorhinolaryngology — Vol. 104, p. 191-194 (2018)
    • Journal article
    Preanalytics of ammonia: stability, transport and temperature of centrifugation.
    Favresse, Julien[UCL] Despas, Noémie[UCL] Boland, Lidvine[UCL] Gruson, Damien[UCL] Laterre, Pierre-François[UCL] Nassogne, Marie-Cécile[UCL] Vincent, Marie-Françoise[UCL] Fillee, Catherine[UCL] (2018) Clinical Chemistry and Laboratory Medicine : Associated with FESCC and IFCC — Vol. 56, no. 3, p. e65-e68 (2018)
    • Journal article
    Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
    Bruun, Theodora U J Sidky, Sarah Bandeira, Anabela O Debray, Francoise-Guillaume Ficicioglu, Can Goldstein, Jennifer Joost, Kairit Koeberl, Dwight D Luísa, Diogo Nassogne, Marie-Cécile[UCL] O'Sullivan, Siobhan Õunap, Katrin Schulze, Andreas van Maldergem, Lionel Salomons, Gajja S Mercimek-Andrews, Saadet (2018) Metabolic brain disease — Vol. 33, no. 3, p. 875-884 (2018)
    • Journal article
    Neonatal epilepsies: Clinical management.
    Cornet, Marie-Coralie[UCL] Sands, Tristan T Cilio, Maria-Roberta[UCL] (2018) Seminars in fetal & neonatal medicine — Vol. 23, no.3, p. 204-212 (2018)
    • Journal article
    Predictive value of early EEG for seizures in neonates with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia.
    Cornet, Marie-Coralie[UCL] Pasupuleti, Archana Fang, Annie Gonzalez, Fernando Shimotake, Thomas Ferriero, Donna Marie Glass, Hannah Cranley Cilio, Maria-Roberta[UCL] (2018) Pediatric research — Vol. 84, no.3, p. 399-402 (2018)
    • Speech
    Childhood hearing loss is a key feature of CAPOS syndrome : A case report
    Paquay, Stéphanie[UCL] Wiame, Elsa[UCL] Deggouj, Naima[UCL] Boschi, Antonella De Siati, Romolo Daniele[UCL] Sznajer, Yves[UCL] Nassogne, Marie-Cécile[UCL] (2018) Société Française de Neurologie Pédiatrique — Bordeaux
    • Journal article
    A key role of the prefrontal cortex in the maintenance of chronic tinnitus: An fMRI study using a Stroop task
    Araneda Oyaneder, Rodrigo[UCL] Renier, Laurent[UCL] Dricot, Laurence[UCL] Decat, Monique[UCL] Ebner Karestinos, Daniela Silvia[UCL] Deggouj, Naima[UCL] De Volder, Anne[UCL] (2018) NeuroImage: Clinical — Vol. 17, p. 325-334 (2018)