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Displaying 3 results.
    • Journal article
    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)
    • Journal article
    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)
    • Journal article
    Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study
    Laumet, Geoffroy Chouraki, Vincent Grenier-Boley, Benjamin Legry, Vanessa[UCL] Heath, Simon Zelenika, Diana Fievet, Nathalie Hannequin, Didier Delepine, Marc Pasquier, Florence Hanon, Olivier Brice, Alexis Epelbaum, Jacques Berr, Claudine Dartigues, Jean-Francois Tzourio, Christophe Campion, Dominique Lathrop, Mark Bertram, Lars Amouyel, Philippe Lambert, Jean-Charles (2010) Journal of Alzheimer's Disease — Vol. 20, no.4, p. 1181-1188 (2010)