Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31

Por Bernard, Geneviève, Thiffault, Isabelle, Tetreault, Martine, Putorti, Maria Lisa, Bouchard, Isabelle, Sylvain, Michel, Melançon, Serge, Laframboise, Rachel, Langevin, Pierre, Bouchard, Jean-Pierre, Vanasse, Michel, Vanderver, Adeline, Sébire, Guillaume, Brais, Bernard
Publicado em 2010

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Por Perrault, Isabelle, Hamdan, Fadi F., Rio, Marlène, Capo-Chichi, José-Mario, Boddaert, Nathalie, Décarie, Jean-Claude, Maranda, Bruno, Nabbout, Rima, Sylvain, Michel, Lortie, Anne, Roux, Philippe P., Rossignol, Elsa, Gérard, Xavier, Barcia, Giulia, Berquin, Patrick, Munnich, Arnold, Rouleau, Guy A., Kaplan, Josseline, Rozet, Jean-Michel, Michaud, Jacques L.
Publicado em 2014