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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 2
2025
Fiorini, Claudio; Jurkute, Neringa; Torraco, Alessandra; La Morgia, Chiara; Ghezzi, Daniele; Tioli, Gaia; Rigobello, Laura; Ormanbekova, Danara; Berghella, Alessandro; Pietro Pasti, Alberto; Palombo, Flavia; Barboni, Piero; Lucia Cascavilla, Maria; Sadun, Federico; De Negri, Annamaria; Bertini, Enrico; Musumeci, Olimpia; Ardissone, Anna; Rizza, Teresa; Iarossi, Giancarlo; Silvestri, Gabriella; Rossi, Salvatore; Altobelli, Anastasia; Moore, Antony T; Cullup, Thomas; Webster, Andrew R; Davagnanam, Indran; Michaelides, Michel; Malka, Samantha; Ptackova, Hana; Stufkova, Hana; Tesarova, Marketa; Liskova, Petra; Zeng, Leopold; Klopstock, Thomas 
ORCID: https://orcid.org/0000-0003-2805-4652; Kopajtich, Robert; Neuhofer, Christiane; Prokisch, Holger; Lamperti, Costanza; Sadun, Alfredo A; Yu-Wai-Man, Patrick; Carelli, Valerio; Musiani, Francesco; Iommarini, Luisa; Carrozzo, Rosalba; Arno, Gavin und Caporali, Leonardo ORCID: https://orcid.org/0000-0002-0666-4380
(2025):
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
In: Brain [Forthcoming]
ORCID: https://orcid.org/0000-0003-2805-4652; Kopajtich, Robert; Neuhofer, Christiane; Prokisch, Holger; Lamperti, Costanza; Sadun, Alfredo A; Yu-Wai-Man, Patrick; Carelli, Valerio; Musiani, Francesco; Iommarini, Luisa; Carrozzo, Rosalba; Arno, Gavin und Caporali, Leonardo ORCID: https://orcid.org/0000-0002-0666-4380
(2025):
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
In: Brain [Forthcoming]
2021
Nassisi, Marco; Smirnov, Vasily M.; Solis Hernandez, Cyntia; Mohand-Said, Saddek; Condroyer, Christel; Antonio, Aline; Kuehlewein, Laura; Kempf, Melanie; Kohl, Susanne; Wissinger, Bernd; Nasser, Fadi; Ragi, Sara D.; Wang, Nan-Kai; Sparrow, Janet R.; Greenstein, Vivienne C.; Michalakis, Stylianos; Mahroo, Omar A.; Ba-Abbad, Rola; Michaelides, Michel; Webster, Andrew R.; Degli Esposti, Simona; Saffren, Brooke; Capasso, Jenina; Levin, Alex; Hauswirth, William W.; Dhaenens, Claire-Marie; Defoort-Dhellemmes, Sabine; Tsang, Stephen H.; Zrenner, Eberhart; Sahel, Jose-Alain; Petersen-Jones, Simon M.; Zeitz, Christina und Audo, Isabelle
(2021):
CNGB1-related rod-cone dystrophy: A mutation review and update.
In: Human Mutation, Bd. 42, Nr. 6: S. 641-666