Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Christel Thauvin-Robinet"'
Autor:
Emmanuel Raffo, Mathilde Lefebvre, Agathe Roubertie, Mondher Chouchane, Yannis Duffourd, Nathalie Villeneuve, Sandra Wahlen, Arnaud Lafon, Gaetan Lesca, Anne de Saint Martin, Delphine Héron, Laurent Villard, Cyril Mignot, Mathieu Milh, Alice Masurel-Paulet, Sylvie Odent, Laurence Faivre, Salima El Chehadeh, Annick Toutain, Julien Thevenon, Christel Thauvin-Robinet, Frédéric Huet, Bertrand Isidor, Clara Jugé, Jean-Baptiste Rivière, Christophe Philippe, Judith St-Onge, Damien Sanlaville, Véronique Darmency-Stamboul, François Feillet
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 95 (1), pp.113-120. 〈10.1016/j.ajhg.2014.06.006〉
American Journal of Human Genetics, 2014, 95 (1), pp.113-120. ⟨10.1016/j.ajhg.2014.06.006⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 95 (1), pp.113-120. ⟨10.1016/j.ajhg.2014.06.006⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 95 (1), pp.113-120. 〈10.1016/j.ajhg.2014.06.006〉
American Journal of Human Genetics, 2014, 95 (1), pp.113-120. ⟨10.1016/j.ajhg.2014.06.006⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 95 (1), pp.113-120. ⟨10.1016/j.ajhg.2014.06.006⟩
International audience; Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deteriorati
Autor:
Veronica Cusin, Emmanuel Broussolle, Robert Rousson, Pierre Soichot, Annie Sarcey, William Camu, Marie-Claire Locatelli, Laurence Faivre, Martine Mayençon, Albert David, Christel Thauvin-Robinet, Chantal Baudelet-Méry, Philippe Latour
Publikováno v:
The American Journal of Human Genetics. (1):77-82
Charcot-Marie-Tooth disease (CMT) is the most common cause of inherited peripheral neuropathy, with an estimated frequency of 1/2500. We studied a large family with 17 patients affected by the axonal form of CMT (CMT2). Analysis of the 15 genes or lo