The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

by Andreas Traschütz, Andreas Traschütz, Selina Reich, Selina Reich, Astrid D. Adarmes, Astrid D. Adarmes, Mathieu Anheim, Mathieu Anheim, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, Jonathan Baets, Jonathan Baets, A. Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A. Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Peter de Jonghe, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Thomas Klopstock, Thomas Klopstock, Martina Minnerop, Martina Minnerop, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Mathilde Renaud, Richard H. Roxburgh, Richard H. Roxburgh, Filippo M. Santorelli, Tommaso Schirinzi, Tommaso Schirinzi, Deborah A. Sival, Dagmar Timmann, Stefan Vielhaber, Stefan Vielhaber, Stefan Vielhaber, Michael Wallner, Bart P. van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Thomas Klockgether, Rebecca Schüle, Rebecca Schüle, Ludger Schöls, Ludger Schöls, PREPARE Consortium, Matthis Synofzik, Matthis Synofzik
Published 2021-06-01

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

by Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle
Published 2019-10-01