Anzahl der Publikationen: 6
Zeitschriftenartikel
Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas und Prokisch, Holger
(2024):
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
In: Brain
[PDF, 555kB]
Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Siedlecki, Jakob; Catarino, Claudia; Livonius, Bettina von; Muth, Daniel R.; Rudolph, Guenther; Havla, Joachim; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652 und Priglinger, Claudia
(2023):
Age‐dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
In: European Journal of Neurology, Bd. 30, Nr. 8: S. 2525-2533
[PDF, 1MB]
Siedlecki, Jakob ORCID: https://orcid.org/0000-0002-0279-4823; Koenig, Susanna; Catarino, Claudia; Schaumberger, Markus M.; Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Priglinger, Siegfried Georg; Rudolph, Guenther; Livonius, Bettina von; Klopstock, Thomas und Priglinger, Claudia S.
(2022):
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery.
In: British Journal of Ophthalmology, Bd. 107, Nr. 7: S. 1031-1034
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]
Diese Liste wurde am
Sat Dec 21 22:06:58 2024 CET
erstellt.