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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica 分享 收藏
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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators Sciascia, Savino; Roccatello, Dario; Salvatore, Marco; Carta, Claudio; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica 分享 收藏
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Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force Nabbout, Rima; Zanello, Galliano; Baker, Dixie; Black, Lora; Brambilla, Isabella; Buske, Orion J.; Conklin, Laurie S.; Davies, Elin Haf; Julkowska, Daria; Kim, Yeonju; Klopstock, Thomas; Nakamura, Harumasa; Nielsen, Kim G.; Pariser, Anne R.; Pastor, Jose Carlos; Scarpa, Maurizio; Smith, Maureen; Taruscio, Domenica; Groft, Stephen 分享 收藏
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies An Italian Nationwide Survey 意大利全国性调查显示，在疾病缓解疗法时代，脊髓性肌萎缩症的患病率 Coratti, Giorgia; Ricci, Martina; Capasso, Anna; D'amico, Adele; Sansone, Valeria; Bruno, Claudio; Messina, Sonia; Ricci, Federica; Mongini, Tiziana; Coccia, Michela; Siciliano, Gabriele; Pegoraro, Elena; Turri, Mara; Filosto, Massimiliano; Comi, Giacomo; Masson, Riccardo; Maggi, Lorenzo; Bruno, Irene; D'Angelo, Maria Grazia; Trabacca, Antonio; Vacchiano, Veria; Donati, Maria; Simone, Isabella; Ruggiero, Lucia; Varone, Antonio; Verriello, Lorenzo; Berardinelli, Angela; Agosto, Caterina; Pini, Antonella; Maioli, Maria Antonietta; Passamano, Luigia; Brighina, Filippo; Carboni, Nicola; Garibaldi, Matteo; Zuccarino, Riccardo; Gagliardi, Delio; Siliquini, Sabrina; Previtali, Stefano; Taruscio, Domenica; Boccia, Stefania; Pera, Maria Carmela; Pane, Marika; Mercuri, Eugenio 分享 收藏
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International Taruscio, Domenica; Salvatore, Marco; Lumaka, Aime; Carta, Claudio; Cellai, Laura L.; Ferrari, Gianluca; Sciascia, Savino; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel 分享 收藏
The Italian registry for patients with Prader-Willi syndrome 意大利prader-willi综合征患者登记处 Salvatore, Marco; Torreri, Paola; Grugni, Graziano; Rocchetti, Adele; Maghnie, Mohamad; Patti, Giuseppa; Crino, Antonino; Elia, Maurizio; Greco, Donatella; Romano, Corrado; Franzese, Adriana; Mozzillo, Enza; Colao, Annamaria; Pugliese, Gabriella; Pagotto, Uberto; Lo Preiato, Valentina; Scarano, Emanuela; Schiavariello, Concetta; Tornese, Gianluca; Fintini, Danilo; Bocchini, Sarah; Osimani, Sara; De Sanctis, Luisa; Sacco, Michele; Rutigliano, Irene; Delvecchio, Maurizio; Faienza, Maria Felicia; Wasniewska, Malgorzata; Corica, Domenico; Stagi, Stefano; Guazzarotti, Laura; Maffei, Pietro; Dassie, Francesca; Taruscio, Domenica 分享 收藏
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET (vol 17, pg 177, 2021) Talarico, Rosaria; Aguilera, Silvia; Alexander, Tobias; Amoura, Zahir; Antunes, Ana M.; Arnaud, Laurent; Avcin, Tadej; Beretta, Lorenzo; Bombardieri, Stefano; Burmester, Gerd R.; Cannizzo, Sara; Cavagna, Lorenzo; Chaigne, Benjamin; Cornet, Alain; Costedoat-Chalumeau, Nathalie; Doria, Andrea; Ferraris, Alessandro; Fischer-Betz, Rebecca; Fonseca, Joao E.; Frank, Charissa; Gaglioti, Andrea; Galetti, Ilaria; Grunert, Jurgen; Guimaraes, Vera; Hachulla, Eric; Houssiau, Frederic; Iaccarino, Luca; Krieg, Thomas; Limper, Marteen; Malfait, Fransiska; Mariette, Xavier; Marinello, Diana; Martin, Thierry; Matthews, Lisa; Matucci-Cerinic, Marco; Meyer, Alain; Montecucco, Carlomaurizio; Mouthon, Luc; Mueller-Ladner, Ulf; Rednic, Simona; Romao, Vasco C.; Schneider, Matthias; Smith, Vanessa; Sulli, Alberto; Tamirou, Farah; Taruscio, Domenica; Taulaigo, Anna V.; Terol, Enrique; Tincani, Angela; Ticciati, Simone; Turchetti, Giuseppe; van Hagen, P. Martin; van Laar, Jacob M.; Vieira, Ana; de Vries-Bouwstra, Jeska K.; Cutolo, Maurizio; Mosca, Marta 分享 收藏
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET Bandeira, Matilde; Di Cianni, Federica; Marinello, Diana; Arnaud, Laurent; Cannizzo, Sara; Carta, Claudio; Cornet, Alain; Barril, Sara M.; Bulina, Inita; Ferraris, Alessandro; Fonseca, Joao; Gaglioti, Andrea; Limper, Marteen; Lorenzoni, Valentina; Majnik, Judith; Matucci-Cerinic, Marco; Palla, Ilaria; Rednic, Simona; Schneider, Matthias; Smith, Vanessa; Sulli, Alberto; Sondergaard, Klaus; Ticciati, Simone; Tincani, Angela; Turchetti, Giuseppe; Talarico, Rosaria; Cutolo, Maurizio; Mosca, Marta; Taruscio, Domenica 分享 收藏
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation? Salvatore, Donatello; Pepe, Angela; Carnovale, Vincenzo; Majo, Fabio; Padoan, Rita; Quattrucci, Serena; Salvatore, Marco; Taruscio, Domenica; Amato, Annalisa; Ferrari, Gianluca; Campagna, Giuseppe 分享 收藏
Empowering Patients in the Therapeutic Decision-Making Process: A Glance Into Behcet's Syndrome Marinello, Diana; Di Cianni, Federica; Del Bianco, Alessandra; Mattioli, Irene; Sota, Jurgen; Cantarini, Luca; Emmi, Giacomo; Leccese, Pietro; Lopalco, Giuseppe; Mosca, Marta; Padula, Angela; Piga, Matteo; Salvarani, Carlo; Taruscio, Domenica; Talarico, Rosaria 分享 收藏
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First and second wave of SARS-CoV2 in Italian Cystic Fibrosis patients: Data from Italian Cystic Fibrosis Registry Padoan, Rita; Carnovale, V; Salvatore, D.; Quattrucci, S.; Taruscio, D.; Floridia, G.; Amato, A.; Ferrari, Gianluca; Campagna, Giuseppe; Salvatore, Marco 分享 收藏
CPMS-improving patient care in Europe via virtual case discussions Moenig, Isabel; Steenvoorden, Danielle; de Graaf, Johan P.; Ahmed, S. Faisal; Taruscio, Domenica; Beun, Johan G.; Johannsen, Trine H.; Juul, Anders; Hiort, Olaf; Pereira, Alberto M. 分享 收藏
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET Talarico, Rosaria; Aguilera, Silvia; Alexander, Tobias; Amoura, Zahir; Antunes, Ana M.; Arnaud, Laurent; Avcin, Tadej; Beretta, Lorenzo; Bombardieri, Stefano; Burmester, Gerd R.; Cannizzo, Sara; Cavagna, Lorenzo; Chaigne, Benjamin; Cornet, Alain; Costedoat-Chalumeau, Nathalie; Doria, Andrea; Ferraris, Alessandro; Fischer-Betz, Rebecca; Fonseca, Joao E.; Frank, Charissa; Gaglioti, Andrea; Galetti, Ilaria; Grunert, Juergen; Guimaraes, Vera; Hachulla, Eric; Houssiau, Frederic; Iaccarino, Luca; Krieg, Thomas; Limper, Marteen; Malfait, Fransiska; Mariette, Xavier; Marinello, Diana; Martin, Thierry; Matthews, Lisa; Matucci-Cerinic, Marco; Meyer, Alain; Montecucco, Carlomaurizio; Mouthon, Luc; Mueller-Ladner, Ulf; Rednic, Simona; Romao, Vasco C.; Schneider, Matthias; Smith, Vanessa; Sulli, Alberto; Tamirou, Farah; Taruscio, Domenica; Taulaigo, Anna V.; Terol, Enrique; Tincani, Angela; Ticciati, Simone; Turchetti, Giuseppe; van Hagen, P. Martin; van Laar, Jacob M.; Vieira, Ana; de Vries-Bouwstra, Jeska K.; Cutolo, Maurizio; Mosca, Marta 分享 收藏
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis Micale, Lucia; Cialfi, Samantha; Fusco, Carmela; Cinque, Luigia; Castellana, Stefano; Biagini, Tommaso; Talora, Claudio; Notarangelo, Angelantonio; Bisceglia, Luigi; Taruscio, Domenica; Salvatore, Marco; Castori, Marco 分享 收藏
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network Salvatore, Marco; Polizzi, Agata; De Stefano, Maria Chiara; Floridia, Giovanna; Baldovino, Simone; Roccatello, Dario; Sciascia, Savino; Menegatti, Elisa; Remuzzi, Giuseppe; Daina, Erica; Iatropoulos, Paraskevas; Bembi, Bruno; Da Riol, Rosalia Maria; Ferlini, Alessandra; Neri, Marcella; Novelli, Giuseppe; Sangiuolo, Federica; Brancati, Francesco; Taruscio, Domenica 分享 收藏
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