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Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay
Coelho, Teresa , Grogan, Martha , Conceição, Isabel , Kristen, Arnt V. , Wixner, Jonas , González‐Moreno, Juan , Maurer, Mathew S. , García‐Pavía, Pablo , Tournev, Ivailo , González‐Costello, José , Cariou, Eve, Glass, Oliver, Chapman, Doug, Amass, Leslie, investigators, on behalf of the THAOS, Hüsing‐Kabar, Anna, Drachman, Brian, Sekijima, Yoshiki , Jeon, Eun‐Seok , Slosky, David, Hanna, Mazen , Freimer, Miriam , Muñoz-Beamud, Francisco, Mølgaard, Henning, Press, Rayomand , Cirami, Calogero Lino , Plana, Josep Maria Campistol, Inamo, Jocelyn , Quan, Dianna , Dori, Amir , Murali, Srinivas, Živković, Saša , Correia, Edileide de Barros , Nicolau, José Nativi, Tallaj, José , Fernández‐Torrón, Roberto , Polydefkis, Michael , Tauras, James M. , Ventura, Hector, Brunkhorst, Robert, Darstein, Felix , Marburger, Tessa, Mueller, Christopher R. , Cleemput, Johan Van , Parman, Yeşim , Sarswat, N., Warner, Alberta L. , Steidley, D. Eric , Ralph, Jeffrey , Cotts, William, Hoffman, James E. , Rugiero, Marcelo, Misawa, Sonoko , Muñoz-Blanco, José Luís , Dávila, Lucía Galán, Sadeh, Menachem , Luo, Jin, Kyriakides, Theodoros , Wang, Annabel , Dispenzieri, Angela , Conceição, Isabel , Garcia-Pavia, Pablo , Dispenzieri, Angela , Waddington‐Cruz, Márcia , Diemberger, Igor , Maurer, Mathew S , Planté‐Bordeneuve, Violaine , González-Duarte, Alejandra , investigators, on behalf of the THAOS, Barroso, Fábio , Ueda, Mitsuharu , Mazzeo, Anna Teresa , Gentile, Luca , Luigetti, Marco , Adams, David , Nienhuis, Hans L. A. , Emdin, Michele , Miller, Edward J. , Hummel, Scott L. , Witteles, Ronald , Shah, Sanjiv J , Lenihan, Daniel , Azevedo, Olga , Tan, Cheng‐Yin , Fine, Nowell Mark , Tschöpe, Carsten , Obici, Laura , BADELITA, Sorina Nicoleta , Gottlieb, Stephen S. , Oh, Jeeyoung , Mueller, Christopher, Salutto, Valeria , Chao, Chi‐Chao , Kaufmann, Horacio
Amyloid | July 17, 2023 | Volume: 30 | Issue: 4 | Pages: 445-448
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X
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Neurology | May 13, 2012 | Volume: 58 | Issue: 4 | Pages: 603-609