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Anzahl der Publikationen: 7
Zeitschriftenartikel
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]
Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Angeles Garcia; Jang, Se Song; Julia-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Cali, Tito; Brini, Marisa und Zech, Michael
(2023):
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
In: Genetics in Medicine, Bd. 25, Nr. 12, 100971
Ascari, Giulia; Peelman, Frank; Farinelli, Pietro; Rosseel, Toon; Lambrechts, Nina; Wunderlich, Kirsten A.; Wagner, Matias; Nikopoulos, Konstantinos; Martens, Pernille; Balikova, Irina; Derycke, Lara; Holtappels, Gabriele; Krysko, Olga; Laethem, Thalia van; De Jaegere, Sarah; Guillemyn, Brecht; De Rycke, Riet; De Bleecker, Jan; Creytens, David; Dorpe, Jo van; Gerris, Jan; Bachert, Claus; Neuhofer, Christiane; Walraedt, Sophie; Bischoff, Almut; Pedersen, Lotte B.; Klopstock, Thomas; Rivolta, Carlo; Leroy, Bart P.; De Baere, Elfride und Coppieters, Frauke
(2020):
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
In: Human Mutation, Bd. 41, Nr. 5: S. 998-1011
[PDF, 5MB]
Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi, Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang und Klopstock, Thomas
(2020):
Delineating MT-ATP6-associated disease.
In: Neurology-Genetics, Bd. 6, Nr. 1, e393
[PDF, 543kB]
Klopstock, Thomas; Tricta, Fernando; Neumayr, Lynne; Karin, Ivan; Zorzi, Giovanna; Fradette, Caroline; Kmiec, Tomasz; Buchner, Boriana; Steele, Hannah E.; Horvath, Rita; Chinnery, Patrick F.; Basu, Anna; Kupper, Clemens; Neuhofer, Christiane; Kalman, Bernadette; Dusek, Petr; Yapici, Zuhal; Wilson, Ian; Zhao, Feng; Zibordi, Federica; Nardocci, Nardo; Aguilar, Christine; Hayflick, Susan J.; Spino, Michael; Blamire, Andrew M.; Hogarth, Penelope und Vichinsky, Elliott
(2019):
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
In: Lancet Neurology, Bd. 18, Nr. 7: S. 631-642
Schönecker, Sonja; Neuhofer, Christiane; Otto, Markus; Ludolph, Albert; Kassubek, Jan; Landwehrmeyer, Bernhard; Anderl-Straub, Sarah; Semler, Elisa; Diehl-Schmid, Janine; Prix, Catharina; Vollmar, Christian; Fortea, Juan; Huppertz, Hans-Jürgen; Arzberger, Thomas; Edbauer, Dieter; Feddersen, Berend; Dieterich, Marianne; Schröter, Matthias L.; Volk, Alexander E.; Fliessbach, Klaus; Schneider, Anja; Kornhuber, Johannes; Maler, Manuel; Prudlo, Johannes; Jahn, Holger; Böckh-Behrens, Tobias; Danek, Adrian; Klopstock, Thomas und Levin, Johannes
(2018):
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.
In: Frontiers in Aging Neuroscience, Bd. 10, 45
[PDF, 1MB]
Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Bösch, Sylvia; Eigentler, Andreas; Warrenburg, Bart van de; Gaalen, Judith van; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Montcel, Sophie Tezenas du und Klockgether, Thomas
(2017):
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
In: Neurology, Bd. 89, Nr. 10: S. 1043-1049
[PDF, 163kB]