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Displaying 7 results.
    • Journal article
    AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
    Ramond, Francis Rio, Marlène Héron, Bénédicte Imbard, Apolline Marie, Sandrine[UCL] Billiemaz, Kareen Denommé-Pichon, Anne-Sophie Kuentz, Paul Ceballos, Irène Piraud, Monique Vincent, Marie-Françoise[UCL] Touraine, Renaud (2020) Journal of inherited metabolic disease — Vol. 43, no.6, p. 1254-1264 (2020)
    • Journal article
    Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
    Bar, Claire Kuchenbuch, Mathieu Barcia, Giulia Schneider, Amy Jennesson, Mélanie Le Guyader, Gwenaël Lesca, Gaetan Mignot, Cyril Montomoli, Martino Parrini, Elena Isnard, Hervé Rolland, Anne Keren, Boris Afenjar, Alexandra Dorison, Nathalie Sadleir, Lynette G Breuillard, Delphine Levy, Raphael Rio, Marlène Dupont, Sophie Negrin, Susanna Danieli, Alberto Scalais, Emmanuel De Saint Martin, Anne El Chehadeh, Salima Chelly, Jamel Poisson, Alice Lebre, Anne-Sophie Nica, Anca Odent, Sylvie Sekhara, Tayeb Brankovic, Vesna Goldenberg, Alice Vrielynck, Pascal[UCL] Lederer, Damien Maurey, Hélène Terrone, Gaetano Besmond, Claude Hubert, Laurence Berquin, Patrick Billette de Villemeur, Thierry Isidor, Bertrand Freeman, Jeremy L Mefford, Heather C Myers, Candace T Howell, Katherine B Rodríguez-Sacristán Cascajo, Andrés Meyer, Pierre Genevieve, David Guët, Agnès Doummar, Diane Durigneux, Julien van Dooren, Marieke F de Wit, Marie Claire Y Gerard, Marion Marey, Isabelle Munnich, Arnold Guerrini, Renzo Scheffer, Ingrid E Kabashi, Edor Nabbout, Rima (2020) Epilepsia — Vol. 61, no.11, p. 2461-2473 (2020)
    • Journal article
    Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
    Gitiaux, Cyril Ceballos-Picot, Irène Marie, Sandrine[UCL] Valayannopoulos, Vassili Rio, Marlène Verrieres, Séverine Benoist, Jean François Vincent, Marie-Françoise[UCL] Desguerre, Isabelle Bahi-Buisson, Nadia (2009) European journal of human genetics : EJHG — Vol. 17, no. 1, p. 133-6 (2009)
    • Journal article
    BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
    Engel, Camille Valence, Stéphanie Delplancq, Geoffroy Maroofian, Reza Accogli, Andrea Agolini, Emanuele Alkuraya, Fowzan S Baglioni, Valentina Bagnasco, Irene Becmeur-Lefebvre, Mathilde Bertini, Enrico Borggraefe, Ingo Brischoux-Boucher, Elise Bruel, Ange-Line Brusco, Alfredo Bubshait, Dalal K Cabrol, Christelle Cilio, Maria-Roberta[UCL] Cornet, Marie-Coralie Coubes, Christine Danhaive, Olivier[UCL] Delague, Valérie Denommé-Pichon, Anne-Sophie Di Giacomo, Marilena Carmela Doco-Fenzy, Martine Engels, Hartmut Cremer, Kirsten Gérard, Marion Gleeson, Joseph G Heron, Delphine Goffeney, Joanna Guimier, Anne Harms, Frederike L Houlden, Henry Iacomino, Michele Kaiyrzhanov, Rauan Kamien, Benjamin Karimiani, Ehsan Ghayoor Kraus, Dror Kuentz, Paul Kutsche, Kerstin Lederer, Damien Massingham, Lauren Mignot, Cyril Morris-Rosendahl, Déborah Nagarajan, Lakshmi Odent, Sylvie Ormières, Clothilde Partlow, Jennifer Neil Pasquier, Laurent Penney, Lynette Philippe, Christophe Piccolo, Gianluca Poulton, Cathryn Putoux, Audrey Rio, Marlène Rougeot, Christelle Salpietro, Vincenzo Scheffer, Ingrid Schneider, Amy Srivastava, Siddharth Straussberg, Rachel Striano, Pasquale Valente, Enza Maria Venot, Perrine Villard, Laurent Vitobello, Antonio Wagner, Johanna Wagner, Matias Zaki, Maha S Zara, Federizo Lesca, Gaetan Yassaee, Vahid Reza Miryounesi, Mohammad Hashemi-Gorji, Farzad Beiraghi, Mehran Ashrafzadeh, Farah Galehdari, Hamid Walsh, Christopher Novelli, Antonio Tacke, Moritz Sadykova, Dinara Maidyrov, Yerdan Koneev, Kairgali Shashkin, Chingiz Capra, Valeria Zamani, Mina Van Maldergem, Lionel Burglen, Lydie Piard, Juliette (2023) European journal of human genetics — Vol. 31, no.9, p. 1023-1031 (2023)
    • Journal article
    Myhre and LAPS syndromes: Clinical and molecular review of 32 patients
    Michot, Caroline Le Goff, Carine Mahaut, Clémentine Afenjar, Alexandra Brooks, Alice S Campeau, Philippe M. Destree, Anne Di Rocco, Maja Donnai, Dian Hennekam, Raoul Heron, Delphine Jacquemont, Sébastien Kannu, Peter Lin, Angela E. Manouvrier-Hanu, Sylvie Mansour, Sahar Marlin, Sandrine McGowan, Ruth Murphy, Helen Raas-Rothschild, Annick Rio, Marlène Simon, Marleen Stolte-Dijkstra, Irene Stone, James R Sznajer, Yves[UCL] Tolmie, John Touraine, Renaud Van Den Ende, Jenneke Van Der Aa, Nathalie Van Essen, Ton Verloes, Alain Munnich, Arnold Cormier-Daire, Valérie (2014) European Journal of Human Genetics — Vol. 22, no. 11, p. 1272-1277 (2014)
    • Journal article
    Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic Variants.
    Wortmann, Saskia B Feichtinger, Rene G Abela, Lucia van Gemert, Loes A Aubart, Mélodie Dufeu-Berat, Claire-Marine Boddaert, Nathalie de Coo, Rene Stühn, Lara Hebbink, Jasmijn Heinritz, Wolfram Hildebrandt, Julia Himmelreich, Nastassja Korenke, Christoph Lehman, Anna Leyland, Thomas Makowski, Christine Martinez Marin, Rafael Jenaro Marzin, Pauline Mühlhausen, Chris Rio, Marlène Rotig, Agnes Roux, Charles-Joris Schiff, Manuel Haack, Tobias B Syrbe, Steffen Zylicz, Stas A Thiel, Christian Veiga da Cunha, Maria[UCL] Van Schaftingen, Emile[UCL] Wagner, Matias Mayr, Johannes A Wevers, Ron A Boltshauser, Eugen Willemsen, Michel A (2024) Neurology. Genetics — Vol. 10, no.2, p. e200146 (2024)
    • Journal article
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
    Reynhout, Sara Jansen, Sandra Haesen, Dorien van Belle, Siska de Munnik, Sonja A Bongers, Ernie M H F Schieving, Jolanda H Marcelis, Carlo Amiel, Jeanne Rio, Marlène Mclaughlin, Heather Ladda, Roger Sell, Susan Kriek, Marjolein Peeters-Scholte, Cacha M P C D Terhal, Paulien A van Gassen, Koen L Verbeek, Nienke Henry, Sonja Scott Schwoerer, Jessica Malik, Saleem Revencu, Nicole[UCL] Ferreira, Carlos R Macnamara, Ellen Braakman, Hilde M H Brimble, Elise Ruzhnikov, Maura R Z Wagner, Matias Harrer, Philip Wieczorek, Dagmar Kuechler, Alma Tziperman, Barak Barel, Ortal de Vries, Bert B A Gordon, Christopher T Janssens, Veerle Vissers, Lisenka E L M (2019) American journal of human genetics — Vol. 104, no. 1, p. 139-156 (2019)