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Affichage: 5 résultats.
    • Article de périodique
    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
    Coutelier, Marie[UCL] Coarelli, Giulia Monin, Marie-Lorraine Konop, Juliette Davoine, Claire-Sophie Tesson, Christelle Valter, Rémi Anheim, Mathieu Behin, Anthony Castelnovo, Giovanni Charles, Perrine David, Albert Ewenczyk, Claire Fradin, Mélanie Goizet, Cyril Hannequin, Didier Labauge, Pierre Riant, Florence Sarda, Pierre Sznajer, Yves[UCL] Tison, François Ullmann, Urielle Van Maldergem, Lionel Mochel, Fanny Brice, Alexis Stevanin, Giovanni Durr, Alexandra SPATAX network (2017) Brain : a journal of neurology — Vol. 140, no.6, p. 1579-1594 (2017)
    • Article de périodique
    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
    Vissers, Lisenka E L M Kalvakuri, Sreehari de Boer, Elke Geuer, Sinje Oud, Machteld van Outersterp, Inge Kwint, Michael Witmond, Melde Kersten, Simone Polla, Daniel L Weijers, Dilys Begtrup, Amber McWalter, Kirsty Ruiz, Anna Gabau, Elisabeth Morton, Jenny E V Griffith, Christopher Weiss, Karin Gamble, Candace Bartley, James Vernon, Hilary J Brunet, Kendra Ruivenkamp, Claudia Kant, Sarina G Kruszka, Paul Larson, Austin Afenjar, Alexandra Billette de Villemeur, Thierry Nugent, Kimberly DDD Study Raymond, F Lucy Venselaar, Hanka Demurger, Florence Soler-Alfonso, Claudia Li, Dong Bhoj, Elizabeth Hayes, Ian Hamilton, Nina Powell Ahmad, Ayesha Fisher, Rachel van den Born, Myrthe Willems, Marjolaine Sorlin, Arthur Delanne, Julian Moutton, Sebastien Christophe, Philippe Mau-Them, Frederic Tran Vitobello, Antonio Goel, Himanshu Massingham, Lauren Phornphutkul, Chanika Schwab, Jennifer Keren, Boris Charles, Perrine Vreeburg, Maaike De Simone, Lenika Hoganson, George Iascone, Maria Milani, Donatella Evenepoel, Lucie[UCL] Revencu, Nicole[UCL] Ward, D Isum Burns, Kaitlyn Krantz, Ian Raible, Sarah E Murrell, Jill R Wood, Kathleen Cho, Megan T van Bokhoven, Hans Muenke, Maximilian Kleefstra, Tjitske Bodmer, Rolf de Brouwer, Arjan P M (2020) American journal of human genetics — Vol. 107, no.1, p. 164-172 (2020)
    • Article de périodique
    Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
    Coutelier, Marie[UCL] Goizet, Cyril Durr, Alexandra Habarou, Florence Morais, Sara Dionne-Laporte, Alexandre Tao, Feifei Konop, Juliette Stoll, Marion Charles, Perrine Jacoupy, Maxime Matusiak, Raphaël Alonso, Isabel Tallaksen, Chantal Mairey, Mathilde Kennerson, Marina Gaussen, Marion Schule, Rebecca Janin, Maxime Morice-Picard, Fanny Durand, Christelle M Depienne, Christel Calvas, Patrick Coutinho, Paula Saudubray, Jean-Marie Rouleau, Guy Brice, Alexis Nicholson, Garth Darios, Frédéric Loureiro, José L Zuchner, Stephan Ottolenghi, Chris Mochel, Fanny Stevanin, Giovanni (2015) Brain : a journal of neurology — Vol. 138, no.8, p. 2191-2205 (2015)
    • Article de périodique
    STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
    Lehalle, Daphné Mosca-Boidron, Anne-Laure Begtrup, Amber Boute-Benejean, Odile Charles, Perrine Cho, Megan T Clarkson, Amanda Devinsky, Orrin Duffourd, Yannis Duplomb-Jego, Laurence Gérard, Bénédicte Jacquette, Aurélia Kuentz, Paul Masurel-Paulet, Alice McDougall, Carey Moutton, Sébastien Olivié, Hilde Park, Soo-Mi Rauch, Anita Revencu, Nicole[UCL] Rivière, Jean-Baptiste Rubin, Karol Simonic, Ingrid Shears, Deborah J Smol, Thomas Taylor Tavares, Ana Lisa Terhal, Paulien Thevenon, Julien Van Gassen, Koen Vincent-Delorme, Catherine Willemsen, Marjolein H Wilson, Golder N Zackai, Elaine Zweier, Christiane Callier, Patrick Thauvin-Robinet, Christel Faivre, Laurence (2017) Journal of Medical Genetics — Vol. 54, no.7, p. 479-488 (2017)
    • Article de périodique
    Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
    Coutelier, Marie[UCL] Hammer, Monia B Stevanin, Giovanni Monin, Marie-Lorraine Davoine, Claire-Sophie Mochel, Fanny Labauge, Pierre Ewenczyk, Claire Ding, Jinhui Gibbs, J Raphael Hannequin, Didier Melki, Judith Toutain, Annick Laugel, Vincent Forlani, Sylvie Charles, Perrine Broussolle, Emmanuel Thobois, Stéphane Afenjar, Alexandra Anheim, Mathieu Calvas, Patrick Castelnovo, Giovanni de Broucker, Thomas Vidailhet, Marie Moulignier, Antoine Ghnassia, Robert T Tallaksen, Chantal Mignot, Cyril Goizet, Cyril Le Ber, Isabelle Ollagnon-Roman, Elisabeth Pouget, Jean Brice, Alexis Singleton, Andrew Durr, Alexandra Spastic Paraplegia and Ataxia Network (2018) JAMA neurology — Vol. 75, no.5, p. 591-599 (2018)