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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]
Schiava, Marianela ORCID: https://orcid.org/0000-0002-2709-265X; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta ORCID: https://orcid.org/0000-0001-9850-8504; Topf, Ana; Nishino, Ichizo ORCID: https://orcid.org/0000-0001-9452-112X; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Zanoteli, Edmar ORCID: https://orcid.org/0000-0002-4991-6760; Sgobbi Souza, Paulo Victor ORCID: https://orcid.org/0000-0002-7416-7108; Tasca, Giorgio ORCID: https://orcid.org/0000-0003-0849-9144; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena ORCID: https://orcid.org/0000-0002-7740-4156; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong ORCID: https://orcid.org/0000-0002-5174-286X; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G. ORCID: https://orcid.org/0000-0001-9937-443X; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N. ORCID: https://orcid.org/0000-0002-2263-7569; Nair, Sruthi S ORCID: https://orcid.org/0000-0001-5463-5229; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan ORCID: https://orcid.org/0000-0001-9009-7261; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan ORCID: https://orcid.org/0000-0002-9033-7568; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad ORCID: https://orcid.org/0000-0002-3816-6124 und Diaz-Manera, Jordi ORCID: https://orcid.org/0000-0003-2941-7988
(2022):
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 93, Nr. 10: S. 1099-1111
ORCID: https://orcid.org/0000-0002-2709-265X; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta ORCID: https://orcid.org/0000-0001-9850-8504; Topf, Ana; Nishino, Ichizo ORCID: https://orcid.org/0000-0001-9452-112X; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Zanoteli, Edmar ORCID: https://orcid.org/0000-0002-4991-6760; Sgobbi Souza, Paulo Victor ORCID: https://orcid.org/0000-0002-7416-7108; Tasca, Giorgio ORCID: https://orcid.org/0000-0003-0849-9144; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena ORCID: https://orcid.org/0000-0002-7740-4156; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong ORCID: https://orcid.org/0000-0002-5174-286X; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G. ORCID: https://orcid.org/0000-0001-9937-443X; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N. ORCID: https://orcid.org/0000-0002-2263-7569; Nair, Sruthi S ORCID: https://orcid.org/0000-0001-5463-5229; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan ORCID: https://orcid.org/0000-0001-9009-7261; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan ORCID: https://orcid.org/0000-0002-9033-7568; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad ORCID: https://orcid.org/0000-0002-3816-6124 und Diaz-Manera, Jordi ORCID: https://orcid.org/0000-0003-2941-7988
(2022):
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 93, Nr. 10: S. 1099-1111