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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions by Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L. Cellai, Gianluca Ferrari, Aimé 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, Karaman Pagava, Ratna Dua Puri, Vaness I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
Published 2025-02-01Get full text
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Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice by Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Hector Garcia‐Moreno, Magda M Santana, Bart van de Warrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Durr, Bela Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen de Vries, Luis Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A Kaeser, Jens Kuhle, Thomas Klockgether, Ludger Schöls, SCA3 neurofilament study group, Christian Barro, Jeannette Hübener‐Schmid, Matthis Synofzik, Christian Deuschle, Elke Stransky, Kathrin Brockmann, Jörg B Schulz, Laszlo Baliko, Judith van Gaalen, Mafalda Raposo, Andreas Jeromin
Published 2020-06-01Get full text
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