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Anzahl der Publikationen: 3
Zeitschriftenartikel
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]
Stenton, Sarah L.; Tesarova, Marketa; Sheremet, Natalia L.; Catarino, Claudia; Carelli, Valerio; Ciara, Elzbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R.; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elzbieta; Klopstock, Thomas; Koenig, Mary K.; Kolarova, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Noskova, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N.; Stranecky, Viktor; Tothova, Iveta; Traisk, Frank und Prokisch, Holger
(2022):
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
In: Brain, Bd. 145, Nr. 5: S. 1624-1631
[PDF, 848kB]
Haack, Tobias B.; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A.; Herberg, Ulrike; Hennermann, Julia B.; Klopstock, Thomas; Kuhn, Klaus A.; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, Georg F.; Tesarova, Marketa; Hansikova, Hana; Zeman, Jiri; Plecko, Barbara; Zeviani, Massimo; Wittig, Ilka; Strom, Tim M.; Schuelke, Markus; Freisinger, Peter; Meitinger, Thomas und Prokisch, Holger
(April 2012):
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
In: Journal of medical genetics, Bd. 49, Nr. 4: S. 277-283
[PDF, 372kB]