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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Academic Journal
Blickhäuser, B.; Neuhofer, C.M.; Schlieben, L.D.; Kopajtich, R.; Prokisch, H.; Catarino, C.; Klopstock, T.; Stenton, S.L.; Floride, E.; Nesbitt, V.; Fratter, C.; Koch, J.; Wortmann, S.; Kauffmann, B.; Carelli, V.; Morgia, C.L.; Sadun, A.A.; McFarland, R.; Fang, F.; Paquay, S.; Nassogne, M.C.; Ghezzi, D.; Lamperti, C.; Poulton, J.
In: Brain . (Brain, 1 June 2024, 147(6):1967-1974)
Academic Journal
Töpf, A.; Cox, D.; Di Leo, V.; Harris, E.; Marini-Bettolo, C.; Diaz-Manera, J.; Duff, J.; Tasca, G.; Straub, V.; Zaharieva, I.T.; Manzur, A.; Phadke, R.; Sarkozy, A.; Muntoni, F.; Sarparanta, J.; Jonson, P.H.; Vihola, A.; Savarese, M.; Udd, B.; Sealy, I.M.; White, R.J.; Merteroglu, M.; Busch-Nentwich, E.M.; Smolnikov, A.; Oates, E.C.; Cummings, B.B.; Wali, N.; Patrick, J.; Laricchia, K.M.; Stenton, S.L.; England, E.M.; O’Donnell-Luria, A.; O’Heir, E.; VanNoy, G.; MacArthur, D.G.; Venturini, C.; Vroling, B.; Henderson, M.; Barresi, R.; Al-Husayni, S.; Beggs, A.H.; Genetti, C.A.; Biancalana, V.; Lornage, X.; Laporte, J.; Bodi, I.; Bommireddipalli, S.; Cooper, S.T.; Bönnemann, C.G.; Donkervoort, S.; Cairns, A.; Chiew, M.-T.; Davis, M.R.; Claeys, K.G.; Erasmus, C.E.; Fassad, M.R.; Taylor, R.W.; Grosmann, C.; Jungbluth, H.; Kamsteeg, E.-J.; Schouten, M.; Löscher, W.N.; Wanschitz, J.V.; Malfatti, E.; Martí, P.; Muelas, N.; Vilchez, J.J.; Mongini, T.E.; Nishikawa, A.; Nishino, I.; Ogonuki, N.; O’Grady, G.L.; Paquay, S.; Van den Bergh, P.; Pletcher, B.A.; Tuite, A.; Romero, N.B.; Shah, S.; Smuts, I.; Sznajer, Y.; Voermans, N.C.; Wraige, E.; Yoshimura, K.; Nakagawa, O.; Cordell, H.J.
In: Nature Genetics . (Nature Genetics, March 2024, 56(3):395-407)
Academic Journal
In: Proceedings of the National Academy of Sciences of the United States of America . (Proceedings of the National Academy of Sciences of the United States of America, 13 February 2024, 121(7))
Academic Journal
In Tribology International June 2017 110:401-425
Academic Journal
In Computer Methods in Applied Mechanics and Engineering 1 October 2016 310:802-839
Academic Journal
In Journal of Computational and Applied Mathematics 1 December 2015 289:173-195
Academic Journal
In Computer Methods in Applied Mechanics and Engineering 1 September 2015 294:141-167
Conference
2016 17th International Conference on Thermal, Mechanical and Multi-Physics Simulation and Experiments in Microelectronics and Microsystems (EuroSimE) Thermal, Mechanical and Multi-Physics Simulation and Experiments in Microelectronics and Microsystems (EuroSimE), 2016 17th International Conference on. :1-4 Apr, 2016
Academic Journal
In: Journal of Biological Chemistry . (Journal of Biological Chemistry, 1 October 2021, 297(4))
Academic Journal
Kožich, V.; Sokolová, J.; Krijt, J.; Morris, A.A.M.; Pavlíková, M.; Gleich, F.; Kölker, S.; Dionisi-Vici, C.; Baumgartner, M.R.; Huemer, M.; Blom, H.J.; Aldámiz-Echevarría, L.; Arantes, R.R.; Arrieta, F.; Blasco-Alonso, J.; Brouwers, M.; Brunner-Krainz, M.; Bueno, M.; Peláez, R.B.; Cano, A.; Couce, M.-L.; Crushell, E.; Monavari, A.; Ficicioglu, C.; Forny, P.; García Jiménez, M.C.; Gaspar, A.; González-Lamuño Leguina, D.; Chapman, K.A.; Chien, Y.-H.; Janssen, M.C.H.; Rennings, A.J.M.; Ješina, P.; Zeman, J.; Lachmann, R.; Murphy, E.; Lavigne, C.; Lund, A.M.; Lüsebrink, N.; Maillot, F.; Martins, A.M.; Olivas, S.M.; Mention, K.; Mochel, F.; Moreira, S.; Moreno, C.A.; Muacevic-Katanec, D.; Mundy, H.; Olivieri, G.; Paquay, S.; Pedrón-Giner, C.; Quintana, L.P.; Porras-Hurtado, G.L.; Fraile, P.Q.; Redonnet-Vernhet, I.; Pons, M.R.; Santra, S.; Servais, A.; Schiaffino, M.C.; Schiff, M.; Schwahn, B.C.; Schwartz, I.V.D.; Sremba, L.J.; Stainforth, C.; Stepien, K.M.; Sykut-Cegielska, J.; Terry, A.; Tran, C.; Miñana, I.V.; Vives-Piñera, I.; Williams, M.; Zielonka, M.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, May 2021, 44(3):677-692)
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[AR] Paquay, S.
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