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Anzahl der Publikationen: 8
Zeitschriftenartikel
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]
Yu-Wai-Man, Patrick; Carelli, Valerio; Newman, Nancy J.; Silva, Magda Joana; Linden, Aki; Van Stavern, Gregory; Szaflik, Jacek P.; Banik, Rudrani; Lubinski, Wojciech; Pemp, Berthold; Liao, Yaping Joyce; Subramanian, Prem S.; Misiuk-Hojlo, Marta; Newman, Steven; Castillo, Lorena; Kociecki, Jaroslaw; Levin, Marc H.; Munoz-Negrete, Francisco Jose; Yagan, Ali; Cherninkova, Sylvia; Katz, David; Meunier, Audrey; Votruba, Marcela; Korwin, Magdalena; Dziedziak, Jacek; Jurkute, Neringa; Harvey, Joshua P.; La Morgia, Chiara; Priglinger, Claudia; Lloria, Xavier; Tomasso, Livia und Klopstock, Thomas
(2024):
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
In: Cell Reports Medicine, Bd. 5, Nr. 3, 101437
[PDF, 3MB]
Carelli, Valerio; Newman, Nancy J.; Yu-Wai-Man, Patrick; Biousse, Valerie; Moster, Mark L.; Subramanian, Prem S.; Vignal-Clermont, Catherine; Wang, An-Guor; Donahue, Sean P.; Leroy, Bart P.; Sergott, Robert C.; Klopstock, Thomas; Sadun, Alfredo A.; Fernandez, Gema Rebolleda; Chwalisz, Bart K.; Banik, Rudrani; Girmens, Jean Francois; La Morgia, Chiara; DeBusk, Adam A.; Jurkute, Neringa; Priglinger, Claudia; Karanjia, Rustum; Josse, Constant; Salzmann, Julie; Montestruc, Francois; Roux, Michel; Taiel, Magali; Sahel, Jose-Alain und Group, The Lhon Study
(2022):
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G > A MT-ND4 Mutation.
In: Ophthalmology and Therapy, Bd. 12, Nr. 1: S. 401-429
[PDF, 719kB]
Stenton, Sarah L.; Tesarova, Marketa; Sheremet, Natalia L.; Catarino, Claudia; Carelli, Valerio; Ciara, Elzbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R.; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elzbieta; Klopstock, Thomas; Koenig, Mary K.; Kolarova, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Noskova, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N.; Stranecky, Viktor; Tothova, Iveta; Traisk, Frank und Prokisch, Holger
(2022):
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
In: Brain, Bd. 145, Nr. 5: S. 1624-1631
[PDF, 848kB]
Newman, Nancy J.; Yu-Wai-Man, Patrick; Carelli, Valerio; Biousse, Valerie; Moster, Mark L.; Vignal-Clermont, Catherine; Sergott, Robert C.; Klopstock, Thomas; Sadun, Alfredo A.; Girmens, Jean-Francois; La Morgia, Chiara; DeBusk, Adam A.; Jurkute, Neringa; Priglinger, Claudia; Karanjia, Rustum; Josse, Constant; Salzmann, Julie; Montestruc, Francois; Roux, Michel; Taiel, Magali und Sahel, Jose-Alain
(24. Mai 2021):
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison.
In: Frontiers in Neurology, Bd. 12, 662838
[PDF, 592kB]
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]
Biousse, Valerie; Newman, Nancy J.; Yu-Wai-Man, Patrick; Carelli, Valerio; Moster, Mark L.; Vignal-Clermont, Catherine; Klopstock, Thomas; Sadun, Alfredo A.; Sergott, Robert C.; Hage, Rabih; Esposti, Simona; La Morgia, Chiara; Priglinger, Claudia; Karanja, Rustum; Blouin, Laure; Taiel, Magali und Sahel, Jose-Alain
(2021):
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.
In: Journal of Neuro-Ophthalmology, Bd. 41, Nr. 3: S. 309-315
[PDF, 235kB]
Yu-Wai-Man, Patrick; Newman, Nancy J.; Carelli, Valerio; Moster, Mark L.; Biousse, Valerie; Sadun, Alfredo A.; Klopstock, Thomas; Vignal-Clermont, Catherine; Sergott, Robert C.; Rudolph, Gunther; La Morgia, Chiara; Karanjia, Rustum; Taiel, Magali; Blouin, Laure; Burguiere, Pierre; Smits, Gerard; Chevalier, Caroline; Masonson, Harvey; Salermo, Yordak; Katz, Barrett; Picaud, Serge; Calkins, David J. und Sahel, Jose-Alain
(2020):
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy.
In: Science Translational Medicine, Bd. 12, Nr. 573, eaaz7423