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Zeitschriftenartikel
Smeitink, Jan; Es, Just van; Bosman, Brigitte; Janssen, Mirian C. H.; Klopstock, Thomas 
ORCID: https://orcid.org/0000-0003-2805-4652; Gorman, Grainne; Vissing, John; Ruiterkamp, Gerrit; Edgar, Chris J.; Abbink, Evertine J.; Maanen, Rob van; Pogoryelova, Oksana; Stendel, Claudia; Bischoff, Almut; Karin, Ivan; Munshi, Mahtab; Kümmel, Anne; Burgert, Lydia; Verhaak, Christianne und Renkema, Herma
(2025):
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
In: Brain, Bd. 148, Nr. 3: S. 896-907
[PDF, 904kB]
ORCID: https://orcid.org/0000-0003-2805-4652; Gorman, Grainne; Vissing, John; Ruiterkamp, Gerrit; Edgar, Chris J.; Abbink, Evertine J.; Maanen, Rob van; Pogoryelova, Oksana; Stendel, Claudia; Bischoff, Almut; Karin, Ivan; Munshi, Mahtab; Kümmel, Anne; Burgert, Lydia; Verhaak, Christianne und Renkema, Herma
(2025):
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
In: Brain, Bd. 148, Nr. 3: S. 896-907
[PDF, 904kB]
Ascari, Giulia; Peelman, Frank; Farinelli, Pietro; Rosseel, Toon; Lambrechts, Nina; Wunderlich, Kirsten A.; Wagner, Matias; Nikopoulos, Konstantinos; Martens, Pernille; Balikova, Irina; Derycke, Lara; Holtappels, Gabriele; Krysko, Olga; Laethem, Thalia van; De Jaegere, Sarah; Guillemyn, Brecht; De Rycke, Riet; De Bleecker, Jan; Creytens, David; Dorpe, Jo van; Gerris, Jan; Bachert, Claus; Neuhofer, Christiane; Walraedt, Sophie; Bischoff, Almut; Pedersen, Lotte B.; Klopstock, Thomas; Rivolta, Carlo; Leroy, Bart P.; De Baere, Elfride und Coppieters, Frauke
(2020):
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
In: Human Mutation, Bd. 41, Nr. 5: S. 998-1011
[PDF, 5MB]