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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
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]
2021
Carinci, Marianna; Testa, Beatrice; Bordi, Matteo; Milletti, Giacomo; Bonora, Massimo; Antonucci, Laura; Ferraina, Caterina; Carro, Marta; Kumar, Mukesh; Ceglie, Donatella; Eck, Franziska; Nardacci, Roberta; le Guerroue, Francois; Petrini, Stefania; Soriano, Maria E.; Caruana, Ignazio; Doria, Valentina; Manifava, Maria; Peron, Camille; Lambrughi, Matteo; Tiranti, Valeria; Behrends, Christian; Papaleo, Elena; Pinton, Paolo; Giorgi, Carlotta; Ktistakis, Nicholas T.; Locatelli, Franco; Nazio, Francesca und Cecconi, Francesco
(2021):
TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
In: EMBO Journal, Bd. 40, Nr. 10, e103563
[PDF, 2MB]
2019
Catania, Alessia; Iuso, Arcangela; Bouchereau, Juliette; Kremer, Laura S.; Paviolo, Marina; Terrile, Caterina; Benit, Paule; Rasmusson, Allan G.; Schwarzmayr, Thomas; Tiranti, Valeria; Rustin, Pierre; Rak, Malgorzata; Prokisch, Holger und Schiff, Manuel
(2019):
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.
In: Orphanet Journal of Rare Diseases, Bd. 14, Nr. 1, 236
2017
Kremer, Laura S.; Bader, Daniel M.; Mertes, Christian; Kopajtich, Robert; Pichler, Garwin; Iuso, Arcangela; Haack, Tobias B.; Graf, Elisabeth; Schwarzmayr, Thomas; Terrile, Caterina; Konarikova, Eliska; Repp, Birgit; Kastenmüller, Gabi; Adamski, Jerzy; Lichtner, Peter; Leonhardt, Christoph; Funalot, Benoit; Donati, Alice; Tiranti, Valeria; Lombes, Anne; Jardel, Claude; Glaeser, Dieter; Taylor, Robert W.; Ghezzi, Daniele; Mayr, Johannes A.; Rötig, Agnes; Freisinger, Peter; Distelmaier, Felix; Strom, Tim M.; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2017):
Genetic diagnosis of Mendelian disorders via RNA sequencing.
In: Nature Communications, Bd. 8, 15824
[PDF, 1MB]
2016
Haack, Tobias B.; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S.; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A.; Hayflick, Susan A.; Venco, Paola; Tiranti, Valeria; Strom, Tim M.; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J. und Klopstock, Thomas
(2016):
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
In: American Journal of Human Genetics, Bd. 99, Nr. 3: S. 735-743