Items where Author is "Superti-Furga, Giulio"

2016

van Karnebeek, Clara D. M. and Bonafé, Luisa and Wen, Xiao-Yan and Tarailo-Graovac, Maja and Balzano, Sara and Royer-Bertrand, Beryl and Ashikov, Angel and Garavelli, Livia and Mammi, Isabella and Turolla, Licia and Breen, Catherine and Donnai, Dian and Cormier-Daire, Valérie and Heron, Delphine and Nishimura, Gen and Uchikawa, Shinichi and Campos-Xavier, Belinda and Rossi, Antonio and Hennet, Thierry and Brand-Arzamendi, Koroboshka and Rozmus, Jacob and Harshman, Keith and Stevenson, Brian J. and Girardi, Enrico and Superti-Furga, Giulio and Dewan, Tammie and Collingridge, Alissa and Halparin, Jessie and Ross, Colin J. and Van Allen, Margot I. and Rossi, Andrea and Engelke, Udo F. and Kluijtmans, Leo A. J. and van der Heeft, Ed and Renkema, Herma and de Brouwer, Arjan and Huijben, Karin and Zijlstra, Fokje and Heise, Torben and Boltje, Thomas and Wasserman, Wyeth W. and Rivolta, Carlo and Unger, Sheila and Lefeber, Dirk J. and Wevers, Ron A. and Superti-Furga, Andrea. (2016) NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nature Genetics, 48 (7). pp. 777-784.

2015

Royer-Bertrand, Beryl and Castillo-Taucher, Silvia and Moreno-Salinas, Rodrigo and Cho, Tae-Joon and Chae, Jong-Hee and Choi, Murim and Kim, Ok-Hwa and Dikoglu, Esra and Campos-Xavier, Belinda and Girardi, Enrico and Superti-Furga, Giulio and Bonafé, Luisa and Rivolta, Carlo and Unger, Sheila and Superti-Furga, Andrea. (2015) Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Scientific Reports, 5. p. 17154.

Heinz, Leonhard X. and Baumann, Christoph L. and Köberlin, Marielle S. and Snijder, Berend and Gawish, Riem and Shui, Guanghou and Sharif, Omar and Aspalter, Irene M. and Müller, André C. and Kandasamy, Richard K. and Breitwieser, Florian P. and Pichlmair, Andreas and Bruckner, Manuela and Rebsamen, Manuele and Blüml, Stephan and Karonitsch, Thomas and Fauster, Astrid and Colinge, Jacques and Bennett, Keiryn L. and Knapp, Sylvia and Wenk, Markus R. and Superti-Furga, Giulio. (2015) The lipid-modifying enzyme SMPDL3B negatively regulates innate immunity. Cell reports, Vol. 11, H. 12. pp. 1919-1928.