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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]
Altmann, Judith; Büchner, Boriana; Nadaj-Pakleza, Aleksandra; Schäfer, Jochen; Jackson, Sandra; Lehmann, Diana; Deschauer, Marcus; Kopajtich, Robert; Lautenschläger, Ronald; Kuhn, Klaus A.; Karle, Kathrin; Schöls, Ludger; Schulz, Jörg B.; Weis, Joachim; Prokisch, Holger; Kornblum, Cornelia; Claeys, Kristl G. und Klopstock, Thomas
(2016):
Expanded phenotypic spectrum of the m.8344A > G "MERRF" mutation: data from the German mitoNET registry.
In: Journal of Neurology, Bd. 263, Nr. 5: S. 961-972
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; Vries, Maaike C. de; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger und Klopstock, Thomas
(2015):
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
In: Annals of Clinical and Translational Neurology, Bd. 2, Nr. 5: S. 492-509