Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?

by Domenica Taruscio, Alberto Mantovani
Published 2021-01-01

Rare diseases and orphan drugs

by Domenica Taruscio, Fiorentino Capozzoli, Claudio Frank
Published 2011-01-01

The Role of microRNAs in the Biology of Rare Diseases

by Domenica Taruscio, Armando Magrelli, Marco Salvatore
Published 2011-10-01

Reflections on the Importance of Cost of Illness Analysis in Rare Diseases: A Proposal

by Patrizio Armeni, Marianna Cavazza, Entela Xoxi, Domenica Taruscio, Yllka Kodra
Published 2021-01-01

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

Exploring the usability of EUCERD core indicators for rare diseases

by Rita Maria Ferrelli, Marta De Santis, Amalia Egle Gentile, Domenica Taruscio
Published 2015-12-01

Policies on Conflicts of Interest in Health Care Guideline Development: A Cross-Sectional Analysis.

by Cristina Morciano, Vittorio Basevi, Carla Faralli, Michele Hilton Boon, Sabina Tonon, Domenica Taruscio
Published 2016-01-01

A National Hospital‐Based Study of Hospitalized Patients With Primary Biliary Cholangitis

by Valerio Manno, Alessio Gerussi, Marco Carbone, Giada Minelli, Domenica Taruscio, Susanna Conti, Pietro Invernizzi
Published 2019-09-01

Using a stated preference discrete choice experiment to assess societal value from the perspective of patients with rare diseases in Italy

by Julio López-Bastida, Juan Manuel Ramos-Goñi, Isaac Aranda-Reneo, Domenica Taruscio, Armando Magrelli, Panos Kanavos
Published 2019-06-01

Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

by Sabina Gainotti, Deborah Mascalzoni, Virginie Bros-Facer, Carlo Petrini, Giovanna Floridia, Marco Roos, Marco Salvatore, Domenica Taruscio
Published 2018-09-01

Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome

by Yllka Kodra, Marianna Cavazza, Marta de Santis, Andrea Guala, Maria-Elena Liverani, Patrizio Armeni, Maura Masini, Domenica Taruscio
Published 2020-08-01

Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider

by Rosaria Talarico, Diana Marinello, Sara Cannizzo, Andrea Gaglioti, Simone Ticciati, Claudio Carta, Yllka Kodra, Mojgan Azadegan, Domenica Taruscio, Marta Mosca, Giuseppe Turchetti
Published 2020-11-01

Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy

by Marco Carbone, Yllka Kodra, Adele Rocchetti, Valerio Manno, Giada Minelli, Alessio Gerussi, Vincenzo Ronca, Federica Malinverno, Laura Cristoferi, Annarosa Floreani, Pietro Invernizzi, Susanna Conti, Domenica Taruscio
Published 2020-04-01

The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality?

by Marco Salvatore, Annalisa Amato, Giovanna Floridia, Federica Censi, Gianluca Ferrari, Fabrizio Tosto, Rita Padoan, Valeria Raia, Natalia Cirilli, Giuseppe Castaldo, Ettore Capoluongo, Ubaldo Caruso, Carlo Corbetta, Domenica Taruscio
Published 2020-05-01

Strategies for eliciting and synthesizing evidence for guidelines in rare diseases

by Menaka Pai, Cindy H. T. Yeung, Elie A. Akl, Andrea Darzi, Christopher Hillis, Kimberly Legault, Joerg J. Meerpohl, Nancy Santesso, Domenica Taruscio, Madeleine Verhovsek, Holger J. Schünemann, Alfonso Iorio
Published 2019-03-01

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

by Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, Dario Roccatello, Savino Sciascia, Elisa Menegatti, Giuseppe Remuzzi, Erica Daina, Paraskevas Iatropoulos, Bruno Bembi, Rosalia Maria Da Riol, Alessandra Ferlini, Marcella Neri, Giuseppe Novelli, Federica Sangiuolo, Francesco Brancati, Domenica Taruscio
Published 2020-09-01

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

by Pedro Sernadela, Lorena González-Castro, Claudio Carta, Eelke van der Horst, Pedro Lopes, Rajaram Kaliyaperumal, Mark Thompson, Rachel Thompson, Núria Queralt-Rosinach, Estrella Lopez, Libby Wood, Agata Robertson, Claudia Lamanna, Mette Gilling, Michael Orth, Roxana Merino-Martinez, Manuel Posada, Domenica Taruscio, Hanns Lochmüller, Peter Robinson, Marco Roos, José Luís Oliveira
Published 2017-01-01

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

by Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Francesco Brancati, Marco Salvatore, Maria Chiara De Stefano, Domenica Taruscio, Leonardo Trombelli, Mingyan Fang, Mingyan Fang, Alessandra Ferlini, Alessandra Ferlini
Published 2019-01-01

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

Initiating an undiagnosed diseases program in the Western Australian public health system

by Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Published 2017-05-01