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Carli, Sara 
ORCID: https://orcid.org/0000-0001-8130-5364; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio ORCID: https://orcid.org/0000-0001-9276-4590; Martinelli, Diego; Malandrini, Alessandro ORCID: https://orcid.org/0000-0003-1034-0845; Lopergolo, Diego ORCID: https://orcid.org/0000-0003-2256-0482; Gallus, Gian Nicola ORCID: https://orcid.org/0000-0001-5801-223X; Ganetzky, Rebecca D. ORCID: https://orcid.org/0000-0001-6238-8109; La Morgia, Chiara ORCID: https://orcid.org/0000-0002-4639-8929; Carelli, Valerio ORCID: https://orcid.org/0000-0003-4923-6404; Primiano, Guido ORCID: https://orcid.org/0000-0001-7616-7008; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Serrano-Lorenzo, Pablo ORCID: https://orcid.org/0000-0002-5661-7574; Martín, Miguel A. ORCID: https://orcid.org/0000-0003-4741-772X; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo ORCID: https://orcid.org/0000-0003-2738-8562; Schuelke, Markus ORCID: https://orcid.org/0000-0003-2824-3891; Prigione, Alessandro ORCID: https://orcid.org/0000-0001-9457-1952 und Garone, Caterina ORCID: https://orcid.org/0000-0003-4928-1037
(2025):
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
In: Neurology, Bd. 104, Nr. 7, e213462
[PDF, 626kB]
ORCID: https://orcid.org/0000-0001-8130-5364; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio ORCID: https://orcid.org/0000-0001-9276-4590; Martinelli, Diego; Malandrini, Alessandro ORCID: https://orcid.org/0000-0003-1034-0845; Lopergolo, Diego ORCID: https://orcid.org/0000-0003-2256-0482; Gallus, Gian Nicola ORCID: https://orcid.org/0000-0001-5801-223X; Ganetzky, Rebecca D. ORCID: https://orcid.org/0000-0001-6238-8109; La Morgia, Chiara ORCID: https://orcid.org/0000-0002-4639-8929; Carelli, Valerio ORCID: https://orcid.org/0000-0003-4923-6404; Primiano, Guido ORCID: https://orcid.org/0000-0001-7616-7008; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Serrano-Lorenzo, Pablo ORCID: https://orcid.org/0000-0002-5661-7574; Martín, Miguel A. ORCID: https://orcid.org/0000-0003-4741-772X; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo ORCID: https://orcid.org/0000-0003-2738-8562; Schuelke, Markus ORCID: https://orcid.org/0000-0003-2824-3891; Prigione, Alessandro ORCID: https://orcid.org/0000-0001-9457-1952 und Garone, Caterina ORCID: https://orcid.org/0000-0003-4928-1037
(2025):
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
In: Neurology, Bd. 104, Nr. 7, e213462
[PDF, 626kB]
Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi, Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang und Klopstock, Thomas
(2020):
Delineating MT-ATP6-associated disease.
In: Neurology-Genetics, Bd. 6, Nr. 1, e393
[PDF, 543kB]
Ganetzky, Rebecca D.; Stendel, Claudia; McCormick, Elizabeth M.; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy C.; Klopstock, Thomas und Falk, Marni J.
(2019):
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
In: Human Mutation, Bd. 40, Nr. 5: S. 499-515