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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 7
2024
Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas und Prokisch, Holger
(2024):
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
In: Brain
[PDF, 555kB]
Indelicato, Elisabetta; Boesch, Sylvia; Mencacci, Niccolo; Ghezzi, Daniele; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael
(2024):
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
In: Movement Disorders, Bd. 39, Nr. 1: S. 29-35
[PDF, 408kB]
2023
Nasca, Alessia; Mencacci, Niccolo E.; Invernizzi, Federica; Zech, Michael; Sarmiento, Ignacio J. Keller; Legati, Andrea; Frascarelli, Chiara; Bustos, Bernabe; Romito, Luigi M.; Krainc, Dimitri; Winkelmann, Juliane; Carecchio, Miryam; Nardocci, Nardo; Zorzi, Giovanna; Prokisch, Holger; Lubbe, Steven J.; Garavaglia, Barbara und Ghezzi, Daniele
(2023):
Variants in ATP5F1B are associated with dominantly inherited dystonia.
In: Brain, Bd. 146, Nr. 7: S. 2730-2738
[PDF, 913kB]
2022
Yepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Coster, Rudy van; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2022):
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
In: Genome Medicine, Bd. 14, Nr. 1, 38
[PDF, 2MB]
2021
Stenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; Ven, Amelie T. van der; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino V.; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas 
ORCID: https://orcid.org/0000-0003-2805-4652; Wittig, Ilka und Prokisch, Holger
(2021):
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
In: Journal of Clinical Investigation, Bd. 131, Nr. 6, e138267
[PDF, 6MB]
ORCID: https://orcid.org/0000-0003-2805-4652; Wittig, Ilka und Prokisch, Holger
(2021):
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
In: Journal of Clinical Investigation, Bd. 131, Nr. 6, e138267
[PDF, 6MB]
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]
2017
Kremer, Laura S.; Bader, Daniel M.; Mertes, Christian; Kopajtich, Robert; Pichler, Garwin; Iuso, Arcangela; Haack, Tobias B.; Graf, Elisabeth; Schwarzmayr, Thomas; Terrile, Caterina; Konarikova, Eliska; Repp, Birgit; Kastenmüller, Gabi; Adamski, Jerzy; Lichtner, Peter; Leonhardt, Christoph; Funalot, Benoit; Donati, Alice; Tiranti, Valeria; Lombes, Anne; Jardel, Claude; Glaeser, Dieter; Taylor, Robert W.; Ghezzi, Daniele; Mayr, Johannes A.; Rötig, Agnes; Freisinger, Peter; Distelmaier, Felix; Strom, Tim M.; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2017):
Genetic diagnosis of Mendelian disorders via RNA sequencing.
In: Nature Communications, Bd. 8, 15824
[PDF, 1MB]