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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 3
2025
Fiorini, Claudio; Jurkute, Neringa; Torraco, Alessandra; La Morgia, Chiara; Ghezzi, Daniele; Tioli, Gaia; Rigobello, Laura; Ormanbekova, Danara; Berghella, Alessandro; Pietro Pasti, Alberto; Palombo, Flavia; Barboni, Piero; Lucia Cascavilla, Maria; Sadun, Federico; De Negri, Annamaria; Bertini, Enrico; Musumeci, Olimpia; Ardissone, Anna; Rizza, Teresa; Iarossi, Giancarlo; Silvestri, Gabriella; Rossi, Salvatore; Altobelli, Anastasia; Moore, Antony T; Cullup, Thomas; Webster, Andrew R; Davagnanam, Indran; Michaelides, Michel; Malka, Samantha; Ptackova, Hana; Stufkova, Hana; Tesarova, Marketa; Liskova, Petra; Zeng, Leopold; Klopstock, Thomas 
ORCID: https://orcid.org/0000-0003-2805-4652; Kopajtich, Robert; Neuhofer, Christiane; Prokisch, Holger; Lamperti, Costanza; Sadun, Alfredo A; Yu-Wai-Man, Patrick; Carelli, Valerio; Musiani, Francesco; Iommarini, Luisa; Carrozzo, Rosalba; Arno, Gavin und Caporali, Leonardo ORCID: https://orcid.org/0000-0002-0666-4380
(2025):
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
In: Brain [Forthcoming]
ORCID: https://orcid.org/0000-0003-2805-4652; Kopajtich, Robert; Neuhofer, Christiane; Prokisch, Holger; Lamperti, Costanza; Sadun, Alfredo A; Yu-Wai-Man, Patrick; Carelli, Valerio; Musiani, Francesco; Iommarini, Luisa; Carrozzo, Rosalba; Arno, Gavin und Caporali, Leonardo ORCID: https://orcid.org/0000-0002-0666-4380
(2025):
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
In: Brain [Forthcoming]
2021
Gutschmidt, Kristina; Musumeci, Olimpia; Diaz-Manera, Jordi; Chien, Yin-Hsiu; Knop, Karl Christian; Wenninger, Stephan; Montagnese, Federica; Pugliese, Alessia; Tavilla, Graziana; Alonso-Perez, Jorge; Hwu, Paul Wuh-Liang; Toscano, Antonio und Schoser, Benedikt
(2021):
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa.
In: Journal of Neurology, Bd. 268, Nr. 7: S. 2482-2492
2019
Bergsma, Atze J.; In 't Groen, Stijn L. M.; van den Dorpel, Jan J. A.; van den Hout, Hannerieke J. M. P.; van der Beek, Nadine A. M. E.; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T. und Pijnappel, W. W. M. Pim
(2019):
A genetic modifier of symptom onset in Pompe disease.
In: Ebiomedicine, Bd. 43: S. 553-561