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Zeitschriftenartikel
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]
Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; Warrenburg, Bart van de; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; König, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene und Synofzik, Matthis
(2020):
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
In: Annals of Neurology, Bd. 88, Nr. 2: S. 251-263
[PDF, 7MB]
Donato, Ilaria di; Bianchi, Silvia; Stefano, Nicola de; Dichgans, Martin; Dotti, Maria Teresa; Duering, Marco; Jouvent, Eric; Korczyn, Amos D.; Lesnik-Oberstein, Saskia A. J.; Malandrini, Alessandro; Markus, Hugh S.; Pantoni, Leonardo; Penco, Silvana; Rufa, Alessandra; Sinanović, Osman; Stojanov, Dragan und Federico, Antonio
(2017):
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
In: BMC Medicine
15:41
[PDF, 1MB]