Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis? by Domenica Taruscio, Alberto Mantovani

Get full text

The rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutants by Domenica Taruscio, Alberto Mantovani

Get full text

Exploring the usability of EUCERD core indicators for rare diseases by Rita Maria Ferrelli, Marta De Santis, Amalia Egle Gentile, Domenica Taruscio

Get full text

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

Get full text

Technologies to Support Frailty, Disability, and Rare Diseases: Towards a Monitoring Experience during the COVID-19 Pandemic Emergency by Daniele Giansanti, Antonia Pirrera, Paola Meli, Mauro Grigioni, Marta De Santis, Domenica Taruscio

Get full text

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

Get full text

The impact of indoor air pollution on children’s health and well-being: the experts’ consensus by Elena Bozzola, Rino Agostiniani, Laura Pacifici Noja, Jibin Park, Paolo Lauriola, Tiziana Nicoletti, Domenica Taruscio, Giovanni Taruscio, Alberto Mantovani

Get full text

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

Get full text

Empowering Patients in the Therapeutic Decision-Making Process: A Glance Into Behçet's Syndrome by Diana Marinello, Federica Di Cianni, Alessandra Del Bianco, Irene Mattioli, Jurgen Sota, Luca Cantarini, Giacomo Emmi, Pietro Leccese, Giuseppe Lopalco, Marta Mosca, Angela Padula, Matteo Piga, Carlo Salvarani, Domenica Taruscio, Rosaria Talarico

Get full text

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

Get full text

Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force by Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J. Buske, Laurie S. Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G. Nielsen, Anne R. Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft

Get full text

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

Get full text

The Italian registry for patients with Prader–Willi syndrome by Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio

Get full text

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International by Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada

Get full text

An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET by Matilde Bandeira, Matilde Bandeira, Federica Di Cianni, Diana Marinello, Laurent Arnaud, Sara Cannizzo, Sara Cannizzo, Claudio Carta, Alain Cornet, Sara M. Barril, Inita Bulina, Alessandro Ferraris, João Fonseca, João Fonseca, Andrea Gaglioti, Marteen Limper, Valentina Lorenzoni, Judith Majnik, Marco Matucci-Cerinic, Marco Matucci-Cerinic, Marco Matucci-Cerinic, Ilaria Palla, Simona Rednic, Matthias Schneider, Vanessa Smith, Vanessa Smith, Alberto Sulli, Alberto Sulli, Klaus Søndergaard, Simone Ticciati, Angela Tincani, Giuseppe Turchetti, Rosaria Talarico, Maurizio Cutolo, Maurizio Cutolo, Marta Mosca, Domenica Taruscio

Get full text

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators by Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio

Get full text

The National Italian Guidelines on the diagnosis and treatment of children with pediatric ataxias by Eleonora Lacorte, Paola Piscopo, Luciano Sagliocca, Luca Vignatelli, Domenica Taruscio, Nicola Vanacore, The Ataxia Guideline Development Working Group (GDWG), I Bacigalupo, L Beccani, G Bellomo, E Bertini, S Biagiotti, R Borgatti, A Bramati, R Cammarano, A Ceccarini, C Corti, F Della Gatta, M Della Seta, S Faccioli, S Gainotti, A Gaudiano, G Gervasi, M Ginevrino, C Mariotti, F Mayer, FS Mennini, A Micalizzi, S Nuovo, D Pandarese, P Parisi, L Penna, M Petrarca, G Pioggia, U Raucci, R Romaniello, D Sacchi, V Salvaggiulo, P Sciattella, T Schirinzi, M Tofani, P Torreri, EM Valente, G Vasco, V Zaccaria, G Zanni

Get full text

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

Get full text

Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society by Annamaria Bevivino, Alessandra Coiana, Annalisa Fogazzi, Fabiana Timelli, Sandra Signorini, Marco Lucarelli, Patrizia Morelli, Rita Padoan, Barbara Giordani, Annalisa Amato, Fabio Majo, Gianluca Ferrari, Serena Quattrucci, Laura Minicucci, Giovanna Floridia, Gianna Puppo Fornaro, Domenica Taruscio, Marco Salvatore, Manuela Seia, Silvia Pierandrei, Giovanna Blaconà, Valentina Salvati, Giovanni Sette, Giuseppe Cimino, Federica Sangiuolo, Adriana Eramo, Marco Lucarelli, Mirella Collura, Elisa Parisi, Annalisa Ferlisi, Gabriella Traverso, Marcella Bertolino, Lisa Termini, Maria A. Orlando, Caterina Di Girgenti, Valeria Pavone, Maria A. Calamia, Maria G. Silvestro, Caterina Lo Piparo, Francesca Ficili, Carla Colombo, Elizabeth Tullis, Jane C. Davies, Charlotte McKee, Cynthia DeSouza, David Waltz, Jessica Savage, Marc Fisher, Rebecca Shilling, Sam Moskowitz, Sarah Robertson, Simon Tian, Jennifer L. Taylor-Cousar, Steven M. Rowe, Elisa Beccia, Annalucia Carbone, Maria Favia, Stefano Castellani, Manuela Seia, Antonella Angiolillo, Carla Colombo, Valeria Casavola, Massimo Conese, Rita Padoan, Bruno M. Cesana, Diego Falchetti, Fiorella Battistini, Elisabetta Bignamini, Cesare Braggion, Mirella Collura, Natalia Cirilli, Maria C. Lucanto, Vincenzina Lucidi, Antonio Manca, Valeria Raia, Novella Rotolo, Donatello Salvatore, Sonia Volpi, Erica Nazzari, Riccardo Guarise, Palmiro Mileto, Francesca Garbarino, Gianfranco Alicandro, Alberto Battezzati, Carla Colombo, Barbara Giordani, Annalisa Amato, Fabio Majo, Gianluca Ferrari, Serena Quattrucci, Laura Minicucci, Rita Padoan, Giovanna Floridia, Gianna Puppo Fornaro, Domenica Taruscio, Marco Salvatore, Antonella M. Di Lullo, Marika Comegna, Felice Amato, Paola Iacotucci, Vincenzo Carnovale, Elena Cantone, Maurizio Iengo, Giuseppe Castaldo, Claudio Orlando, Alida Casale, Angela Sepe, Fabiola De Gregorio, Antonia De Matteo, Alice Castaldo, Chiara Cimbalo, Antonella Tosco, Valeria Raia, Daniela Savi, Serena Quattrucci, Michela Mordenti, Enea Bonci, Patrizia Troiani, Viviana D’Alù, Paolo Rossi, Monica Varchetta, Tamara Perelli, Serenella Bertasi, Paolo Palange, Giuseppe Cimino, Lucia Tardino, Giuseppe F. Parisi, Anna Portale, Chiara Franzonello, Maria Papale, Novella Rotolo, Salvatore Leonardi, Giuseppe F. Parisi, Lucia Tardino, Maria Papale, Chiara Franzonello, Francesca Pennisi, Novella Rotolo, Salvatore Leonardi, Sabina M. Bruno, Giulia Licciardello, Silvia Pierandrei, Giampiero Ferraguti, Serena Quattrucci, Marco Lucarelli, Giampiero Ferraguti, Manuela Sterrantino, Sabina M. Bruno, Silvia Pierandrei, Giancarlo Testino, Giuseppe Cimino, Serenella Bertasi, Marco Lucarelli, Donatello Salvatore, Rita Padoan, Roberto Buzzetti, Annalisa Amato, Barbara Giordani, Gianluca Ferrari, Fabio Majo, Cecilia Surace, Marco Lucarelli, Valentina M. Sofia, Fabio Majo, Giuseppe Cimino, Silvia Pierandrei, Nicola Ullmann, Vincenzina Lucidi, Antonio Novelli, Adriano Angioni, Marika Comegna, Antonella M. Di Lullo, Renato Liguori, Francesca Manzoni, Chiara Di Palma, Sabrina Maietta, Federica Zarrilli, Felice Amato, Valentina M. Sofia, Cecilia Surace, Vito Terlizzi, Federico Alghisi, Antonella Angiolillo, Cesare Braggion, Natalia Cirilli, Carla Colombo, Antonella M. Di Lullo, Rita Padoan, Serena Quattrucci, Valeria Raia, Giuseppe Tuccio, Federica Zarrilli, Antonio Novelli, Vincenzina Lucidi, Marco Lucarelli, Giuseppe Castaldo, Adriano Angioni, Valentina Tradati, Eliana di Stefano, Rita Padoan, Mirella Collura, Patrizia Dato, Maria G. Sciarrabone, Carmela Fondacaro, Lisa Termini, Annalisa Ferlisi, Maria A. Orlando, Gabriella Traverso, Marcella Bertolino, Francesca Ficili, Federico Cresta, Valentina Baglioni, Silvia Garuti, Isabella Buffoni, Francesca Landi, Rosaria Casciaro, Laura Minicucci, Daniela Girelli, Antonio Teri, Samantha Sottotetti, Arianna Biffi, Chiara Vignati, Monica D’accico, Anna Maraschini, Milena Arghittu, Carla Colombo, Giovanna Pizzamiglio, Elisa Cariani, Daniela Dolce, Novella Ravenni, Silvia Campana, Erica Camera, Carlo Castellani, Riccardo Guarise, Cesare Braggion, Giovanni Taccetti, Patrizia Morelli, Eleonora Calderone, Roberto Bandettini, Riccardo Guarise, Chiara Degli Innocenti, Chiara Castellani, Eleonora Masi, Vito Terlizzi, Maria Chiara Cavicchi, Beatrice Ferrari, Ramona Pezzotta, Piercarlo Poli, Serena Messali, Silvana Timpano, Rita Padoan, Erika Scaltriti, Stefano Pongolini, Simona Fiorentini, Silvia Bresci, Lorenzo Corsi, Riccardo Guarise, Beatrice Borchi, Annalisa Cavallo, Filippo Bartalesi, Massimo Pistolesi, Alessandro Bartoloni, Cesare Braggion, Mirella Collura, Francesca Ficili, Lisa Termini, Maria A. Orlando, Gabriella Traverso, Federica Arcoleo, Tiziana Pensabene, Marcella Bertolino, Maria A. Calamia, Annalisa Ferlisi, Annamaria Bevivino, Giovanni Bacci, Federica Armanini, Giovanni Taccetti, Vincenzina Lucidi, Daniela Dolce, Patrizia Morelli, Ersilia V. Fiscarelli, Nicola Segata, Alessio Mengoni, Barbara Giordani, Annalisa Amato, Fabio Majo, Gianluca Ferrari, Serena Quattrucci, Laura Minicucci, Rita Padoan, Giovanna Floridia, Gianna Puppo Fornaro, Domenica Taruscio, Marco Salvatore, Maria V. Di Toppa, Nicoleta Popa, Federico Alghisi, Francesco Felicetti, Sonia Graziano, Riccardo Ciprandi, Rita Pescini, Guendalina Graffigna, Serena Barello, Rosaria Casciaro, Federico Cresta, Laura Minicucci, Paola Catastini, Salvatore De Masi, C. Braggion, Maria A. Calamia, Annalisa Ferlisi, Maria G. Silvestro, Lucia Guarnuto, Francesca Ficili, Emanuela Di Liberti, Valentina Patti, Mirella Collura, Piercarlo Poli, Valentina Tradati, Rita Padoan, Massimo Luca Castellazzi, Valeria Daccò, Laura Claut, Carla Colombo, Matteo Giuliari, Luana Vicentini, Fausto Tilotta, Antonella Paciaroni, Sabino Della Sala, Cristina Guerzoni, Elisa Andreatta, Grazia Dinnella, Lisa Termini, Valeria Pavone, Elisa Parisi, Francesca Ficili, Maria A. Orlando, Annalisa Ferlisi, Gabriella Traverso, Orazia M. Granata, Tommaso S. Aronica, Mimì Crapisi, Donatella Fogazza, Marcella Bertolino, Mirella Collura, Mirella Collura, Luca Alessi, Flavia Mulè, Marcello Vitaliti, Mariarosaria Maresi, Maria A. Orlando, Annalisa Ferlisi, Gabriella Traverso, Lisa Termini, Marcella Bertolino, Francesca Ficili, Fabiola De Gregorio, Antonella Tosco, Alida Casale, Angela Sepe, Chiara Cimbalo, Andrea Catzola, Alice Castaldo, Laura Salvadori, Valeria Raia, Donatello Salvatore, Carmela Colangelo, Giovanni Marsicovetere, Michele D’Andria, Domenica Passarella, Carmela Genovese, Mirella Collura, Elisa Parisi, Annalisa Ferlisi, Mari A. Orlando, Gabriella Traverso, Lisa Termini, Marcella Bertolino, Caterina Di Girgenti, Maria A. Calamia, Maria G. Silvestro, Stefania Barrale, Maria R. Bonaccorso, Annalisa D’Arpa, Francesca Ficili

Get full text