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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 3
2023
Nasca, Alessia; Mencacci, Niccolo E.; Invernizzi, Federica; Zech, Michael; Sarmiento, Ignacio J. Keller; Legati, Andrea; Frascarelli, Chiara; Bustos, Bernabe; Romito, Luigi M.; Krainc, Dimitri; Winkelmann, Juliane; Carecchio, Miryam; Nardocci, Nardo; Zorzi, Giovanna; Prokisch, Holger; Lubbe, Steven J.; Garavaglia, Barbara und Ghezzi, Daniele
(2023):
Variants in ATP5F1B are associated with dominantly inherited dystonia.
In: Brain, Bd. 146, Nr. 7: S. 2730-2738
[PDF, 913kB]
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]
2020
Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Skorvanek, Matej; Necpal, Jan; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A.; Verschuuren, Corien; Egmond, Martje E. van; Flowers, Joanna M.; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe; Bustos, Bernabe I.; Gonzalez-Latapi, Paulina; Tisch, Stephen; Darveniza, Paul; Gorman, Kathleen M.; Peall, Kathryn J.; Bötzel, Kai; Koch, Jan C.; Kmiec, Tomasz; Plecko, Barbara; Boesch, Sylvia; Haslinger, Bernhard; Jech, Robert; Garavaglia, Barbara; Wood, Nick; Houlden, Henry; Gissen, Paul; Lubbe, Steven J.; Sue, Carolyn M.; Cif, Laura; Mencacci, Niccolo E.; Anderson, Glenn; Kurian, Manju A. und Winkelmann, Juliane
(2020):
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
In: Annals of Neurology, Bd. 88, Nr. 5: S. 867-877
[PDF, 20MB]