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openAccessAutosomal_MD_2023_OA.pdf.jpgjun-2023Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 PatientsTraschütz, Andreas; Adarmes Gómez, A. D. CSIC ORCID; Anheim, Mathieu; Baets, Jonathan; Falkenburger, Björn H.; Gburek-Augustat, Janina; Doss, Sarah; Kamm, Christoph; Klivenyi, Peter; Grobe-Einsler, Marcus; Klopstock, Thomas; Minnerop, Martina; Münchau, Alexander; Pane, Chiara; Renaud, Mathilde; Santorelli, Filippo M.; Schöls, Ludger; Timmann, Dagmar; Vielhaber, Stefan; Haack, Tobias B.; Warrenburg, Bart van de; Zanni, Ginevra; Synofzik, Matthisartículo
openAccessCUX1-related_Oppermann_PV_Art2023.pdf.jpg2023CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyOppermann, Henry; Marcos-Grañeda, Elia; Weiss, Linnea A.; Gurnett, Christina A.; Jelsig, Anne Marie; Vineke, Susanne H.; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T.; Race, Simone; Srivastava, Siddharth; Frazier, Zoë; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M.; Semina, Elena V.; Reuter, Miriam S.; Scherer, Stephen W.; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R.; Brasch-Andersen, Charlotte; Kjaersgaard Hansen, Lars; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B.; Pavlidou, Despoina C.; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R.; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.; Lemke, Johannes R.; Jamra, Rami Abou; Nieto, Marta; Tümer, Zeynep; Platzer, Konradartículo