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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 3
2025
Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta 
ORCID: https://orcid.org/0000-0003-0217-8630; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havrankova, Petra; Hoffmann, Georg F.; Janzarik, Wibke G.; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne ORCID: https://orcid.org/0000-0002-7991-4432; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo ORCID: https://orcid.org/0000-0003-4720-9234; Santos Dias Mourao, Andre; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam ORCID: https://orcid.org/0000-0003-1519-1535; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P.; Ulmanova, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Prokisch, Holger; Jech, Robert und Winkelmann, Juliane
(2025):
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
In: Brain [Forthcoming]
ORCID: https://orcid.org/0000-0003-0217-8630; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havrankova, Petra; Hoffmann, Georg F.; Janzarik, Wibke G.; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne ORCID: https://orcid.org/0000-0002-7991-4432; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo ORCID: https://orcid.org/0000-0003-4720-9234; Santos Dias Mourao, Andre; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam ORCID: https://orcid.org/0000-0003-1519-1535; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P.; Ulmanova, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Prokisch, Holger; Jech, Robert und Winkelmann, Juliane
(2025):
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
In: Brain [Forthcoming]
2024
Aleo, Serena Jasmine; Dotto, Valentina Del; Romagnoli, Martina; Fiorini, Claudio; Capirossi, Giada; Peron, Camille; Maresca, Alessandra; Caporali, Leonardo; Capristo, Mariantonietta; Tropeano, Concetta Valentina; Zanna, Claudia; Ross-Cisneros, Fred N.; Sadun, Alfredo A.; Pignataro, Maria Gemma; Giordano, Carla; Fasano, Chiara; Cavaliere, Andrea; Porcelli, Anna Maria; Tioli, Gaia; Musiani, Francesco; Catania, Alessia; Lamperti, Costanza; Marzoli, Stefania Bianchi; Negri, Annamaria De; Cascavilla, Maria Lucia; Battista, Marco; Barboni, Piero; Carbonelli, Michele; Amore, Giulia; Morgia, Chiara La; Smirnov, Dmitrii; Vasilescu, Catalina; Farzeen, Aiman; Blickhaeuser, Beryll; Prokisch, Holger; Priglinger, Claudia; Livonius, Bettina; Catarino, Claudia B.; Klopstock, Thomas; Tiranti, Valeria; Carelli, Valerio und Maria, Anna
(2024):
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
In: Cell Reports Medicine, Bd. 5, Nr. 2, 101383
[PDF, 5MB]
2022
Zech, Michael; Kopajtich, Robert; Steinbruecker, Katja; Bris, Celine; Gueguen, Naig; Feichtinger, Rene G.; Achleitner, Melanie T.; Duzkale, Neslihan; Perivier, Maximilien; Koch, Johannes; Engelhardt, Harald; Freisinger, Peter; Wagner, Matias; Brunet, Theresa; Berutti, Riccardo; Smirnov, Dmitrii; Navaratnarajah, Tharsini; Rodenburg, Richard J. T.; Pais, Lynn S.; Austin-Tse, Christina; O'Leary, Melanie; Boesch, Sylvia; Jech, Robert; Bakhtiari, Somayeh; Jin, Sheng Chih; Wilbert, Friederike; Kruer, Michael C.; Wortmann, Saskia B.; Eckenweiler, Matthias; Mayr, Johannes A.; Distelmaier, Felix; Steinfeld, Robert; Winkelmann, Juliane und Prokisch, Holger
(2022):
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
In: Annals of Neurology, Bd. 91, Nr. 2: S. 225-237
[PDF, 1MB]