Rezultaty - Anna Uhrová Mészárosová
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Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia od Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stéphanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares, Changlian Zhu, Anna Uhrová Mészárosová, Elham Alehabib, Somayeh Bakhtiari, Andreas Janecke, María Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P.C. van de Warrenburg, R Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilgüvar, Sherifa A. Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T. Pagnamenta, Nicholas Wood, Frédéric Tran Mau‐Them, Tobias B. Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Özgür Duman, Nihal Olgaç Dündar, Gökhan Uyanık, Lüdger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean‐Jacques Médard, Roman Chrast, Michaela Auer‐Grumbach, Fowzan S. Alkuraya, Hanan E. Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horváth
Wydane 2021Artigo