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Displaying 5 results.
    • Journal article
    A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
    Coutelier, Marie[UCL] Blesneac, Iulia Monteil, Arnaud Monin, Marie-Lorraine Ando, Kunie Mundwiller, Emeline Brusco, Alfredo Le Ber, Isabelle Anheim, Mathieu Castrioto, Anna Duyckaerts, Charles Brice, Alexis Durr, Alexandra Lory, Philippe Stevanin, Giovanni (2015) American Journal of Human Genetics — Vol. 97, no.5, p. 726-737 (2015)
    • 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
    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)
    • 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)