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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 3
2025
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]
Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico ORCID: https://orcid.org/0000-0001-9276-4590; Carrozzo, Rosalba ORCID: https://orcid.org/0000-0002-3327-4054; Diodato, Daria; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Fang, Fang; Ghezzi, Daniele ORCID: https://orcid.org/0000-0002-6564-3766; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés ORCID: https://orcid.org/0000-0003-0589-0703; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina G.; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei ORCID: https://orcid.org/0000-0002-3923-8636 und Prokisch, Holger ORCID: https://orcid.org/0000-0003-2379-6286
(2025):
Pleiotropic effects of MORC2 derive from its epigenetic signature.
In: Brain, awaf159 [Forthcoming]
ORCID: https://orcid.org/0000-0001-9276-4590; Carrozzo, Rosalba ORCID: https://orcid.org/0000-0002-3327-4054; Diodato, Daria; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Fang, Fang; Ghezzi, Daniele ORCID: https://orcid.org/0000-0002-6564-3766; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés ORCID: https://orcid.org/0000-0003-0589-0703; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina G.; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei ORCID: https://orcid.org/0000-0002-3923-8636 und Prokisch, Holger ORCID: https://orcid.org/0000-0003-2379-6286
(2025):
Pleiotropic effects of MORC2 derive from its epigenetic signature.
In: Brain, awaf159 [Forthcoming]
2018
Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; Coo, Irenaeus F. M. de; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; Meirleir, Linda de; Schülke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Coster, Rudy van; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger und Wortmann, Saskia
(2018):
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
In: Orphanet Journal of Rare Diseases
13:120
[PDF, 3MB]