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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 4

Zeitschriftenartikel

Carli, Sara ORCID logoORCID: https://orcid.org/0000-0001-8130-5364; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio ORCID logoORCID: https://orcid.org/0000-0001-9276-4590; Martinelli, Diego; Malandrini, Alessandro ORCID logoORCID: https://orcid.org/0000-0003-1034-0845; Lopergolo, Diego ORCID logoORCID: https://orcid.org/0000-0003-2256-0482; Gallus, Gian Nicola ORCID logoORCID: https://orcid.org/0000-0001-5801-223X; Ganetzky, Rebecca D. ORCID logoORCID: https://orcid.org/0000-0001-6238-8109; La Morgia, Chiara ORCID logoORCID: https://orcid.org/0000-0002-4639-8929; Carelli, Valerio ORCID logoORCID: https://orcid.org/0000-0003-4923-6404; Primiano, Guido ORCID logoORCID: https://orcid.org/0000-0001-7616-7008; Domínguez-González, Cristina ORCID logoORCID: https://orcid.org/0000-0001-5151-988X; Serrano-Lorenzo, Pablo ORCID logoORCID: https://orcid.org/0000-0002-5661-7574; Martín, Miguel A. ORCID logoORCID: https://orcid.org/0000-0003-4741-772X; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas ORCID logoORCID: https://orcid.org/0000-0003-2805-4652; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo ORCID logoORCID: https://orcid.org/0000-0003-2738-8562; Schuelke, Markus ORCID logoORCID: https://orcid.org/0000-0003-2824-3891; Prigione, Alessandro ORCID logoORCID: https://orcid.org/0000-0001-9457-1952 und Garone, Caterina ORCID logoORCID: 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]

Mancuso, Michelangelo; Papadopoulou, Maria T.; Ng, Yi Shiau; Ardissone, Anna; Bellusci, Marcello; Bertini, Enrico; Di Vito, Lidia; Evangelista, Teresinha; Fons, Carmen; Hikmat, Omar; Horvath, Rita; Klopstock, Thomas; Kornblum, Cornelia; Lamperti, Costanza; Licchetta, Laura; Molnar, Maria Judit; Varhaug, Kristin N.; O'Callaghan, Mar; Pressler, Ronit M.; Schiff, Manuel; Servidei, Serenella; Szabo, Nora; Gorman, Grainne S.; Cross, J. Helen und Rahman, Shamima (2024): Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group. In: European Journal of Neurology [PDF, 3MB]

Bremova-Ertl, Tatiana; Abel, Larry; Walterfang, Mark; Salsano, Ettore; Ardissone, Anna; Malinova, Vera; Kolnikova, Miriam; Bayarri, Jordi Gascon; Tavasoli, Ali Reza; Ashrafi, Mahmoud Reza; Amraoui, Yasmina; Mengel, Eugen; Kolb, Stefan A.; Brecht, Andreas; Bardins, Stanislavs und Strupp, Michael (2021): A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C. In: European Journal of Neurology, Bd. 28, Nr. 9: S. 3040-3050

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]

Diese Liste wurde am Sat May 31 20:59:21 2025 CEST erstellt.