Browsing by Author "Laforêt, Pascal"

Now showing items 1-2 of 2

    • Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients 
      Krahn, Martin; Béroud, Christophe; Labelle, Véronique; Nguyen, Karine; Bernard, Rafaëlle; Bassez, Guillaume; Figarella-Branger, Dominique; Fernández, Carla; Bouvenot, Julien; Richard, Isabelle; Ollagnon-Roman, Elisabeth; Bevilacqua, Jorge; Salvo, Eric; Attarian, Shahram; Chapon, Françoise; Pellissier, Jean-François; Pouget, Jean; Hammouda, El Hadi; Laforêt, Pascal; Urtizberea, Jon Andoni; Eymard, Bruno; Leturcq, France; Lévy, Nicolas (WILEY-LISS, 2008)
    • “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy 
      Bevilacqua, Jorge; Bitoun, Marc; Biancalana, Valérie; Oldfors, Anders; Stoltenburg, Gisela; Claeys, Kristl G.; Lacène, Emmanuelle; Brochier, Guy; Manéré, Linda; Laforêt, Pascal; Eymard, Bruno; Guicheney, Pascale; Fardeau, Michel; Romero, Norma Beatriz (Springer-Verlag, 2008-12-16)
      Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been ...