Browsing by Author "Rivolta, Carlo"

Now showing items 1-2 of 2

    • Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations ... 
      Royer Bertrand, Beryl; Castillo Taucher, Silvia; Moreno Salinas, Rodrigo; Cho, Tae-Joon; Chae, Jong-Hee; Choi, Murim; Kim, Ok-Hwa; Dikoglu, Esra; Campos Xavier, Belinda; Girardi, Enrico; Superti Furga, Giulio; Bonafe, Luis; Rivolta, Carlo; Unger, Sheila; Superti Furga, Andrea (Nature Publishing, 2015)
      We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we ...
    • A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia 
      Zhao, Min; Andrieu Soler, Charlotte; Kowalczuk, Laura; Cortés Burgos, María Paz; Berdugo, Marianne; Dernigoghossian, Marilyn; Halili, Francisco; Jeanny, Jean Claude; Goldenberg, Brigitte; Savoldelli, Michéle; El Sanharawi, Mohamed; Naud, Marie Christine; Ijcken, Wilfred van; Pescini Gobert, Rosanna; Martinet, Danielle; Maass Sepúlveda, Alejandro; Wijnholds, Jan; Crisanti, Patricia; Rivolta, Carlo; Behar Cohen, Francine (Society for Neuroscience, 2015-04)
      Wehave identified and characterized a spontaneousBrownNorwayfrom Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of ...