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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 2
2022
Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez-Alegre, Pedro; Sarmiento, Ignacio J. Keller; Mencacci, Niccolo E.; Lubbe, Steven J.; Kurian, Manju A.; Clot, Fabienne; Meneret, Aurelie; Agathe, Jean-Madeleine de Sainte; Fung, Victor S. C.; Vidailhet, Marie; Baumann, Matthias; Marquardt, Thorsten; Winkelmann, Juliane und Boesch, Sylvia
(2022):
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
In: Movement Disorders, Bd. 37, Nr. 1: S. 137-147
[PDF, 689kB]
2017
Rujano, Maria A.; Serio, Magda Cannata; Panasyuk, Ganna; P, Romain Anne; Reunert, Janine; Rymen, Daisy; Hauser, Virginie; Park, Julien H.; Freisinger, Peter; Souche, Erika; Guida, Maria Clara; Maier, Esther M.; Wada, Yoshinao; Jager, Stefanie; Krogan, Nevan J.; Kretz, Oliver; Nobre, Susana; Garcia, Paula; Quelhas, Dulce; Bird, Thomas D.; Raskind, Wendy H.; Schwake, Michael; Duvet, Sandrine; Foulquier, Francois; Matthijs, Gert; Marquardt, Thorsten und Simons, Matias
(2017):
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
In: Journal of Experimental Medicine, Bd. 214, Nr. 12: S. 3707-3729