The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases

by Domenica Taruscio, Luciano Vittozzi, Adele Rocchetti, Paola Torreri, Luca Ferrari
Published 2018-07-01

Specificity of ε and non-ε isoforms of arabidopsis 14-3-3 proteins towards the H+-ATPase and other targets.

by Roberta Pallucca, Sabina Visconti, Lorenzo Camoni, Giovanni Cesareni, Sonia Melino, Simona Panni, Paola Torreri, Patrizia Aducci
Published 2014-01-01

Correction: Prion Protein Paralog Doppel Protein Interacts with Alpha-2-Macroglobulin: A Plausible Mechanism for Doppel-Mediated Neurodegeneration

by Stefano Benvegnù, Diego Franciotta, Josh Sussman, Angela Bachi, Elisabetta Zardini, Paola Torreri, Cedric Govaerts, Salvatore Pizzo, Giuseppe Legname
Published 2009-01-01

Prion protein paralog doppel protein interacts with alpha-2-macroglobulin: a plausible mechanism for doppel-mediated neurodegeneration.

by Stefano Benvegnù, Diego Franciotta, Josh Sussman, Angela Bachi, Elisabetta Zardini, Paola Torreri, Cedric Govaerts, Salvatore Pizzo, Giuseppe Legname
Published 2009-06-01

Correction: Prion Protein Paralog Doppel Protein Interacts with Alpha-2-Macroglobulin: A Plausible Mechanism for Doppel-Mediated Neurodegeneration.

by Stefano Benvegnù, Diego Franciotta, Josh Sussman, Angela Bachi, Elisabetta Zardini, Paola Torreri, Cedric Govaerts, Salvatore Pizzo, Giuseppe Legname
Published 2009-01-01

Recommendations for Improving the Quality of Rare Disease Registries

by Yllka Kodra, Jérôme Weinbach, Manuel Posada-de-la-Paz, Alessio Coi, S. Lydie Lemonnier, David van Enckevort, Marco Roos, Annika Jacobsen, Ronald Cornet, S. Faisal Ahmed, Virginie Bros-Facer, Veronica Popa, Marieke Van Meel, Daniel Renault, Rainald von Gizycki, Michele Santoro, Paul Landais, Paola Torreri, Claudio Carta, Deborah Mascalzoni, Sabina Gainotti, Estrella Lopez, Anna Ambrosini, Heimo Müller, Robert Reis, Fabrizio Bianchi, Yaffa R. Rubinstein, Hanns Lochmüller, Domenica Taruscio
Published 2018-08-01