학술논문
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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
Academic Journal
Cascajo-Almenara, M.V.; Urreizti, R.; Sánchez-Cuesta, A.; Fernández-Ayala, D.M.; Nascimento, A.; Palau, F.; Yubero, D.; García-Cazorla, A.; Santos-Ocaña, C.; Artuch, R.; Juliá-Palacios, N.; Oliva, C.; O´Callaghan, M.D.M.; Muchart, J.; Ortez, C.I.; Natera-de Benito, D.; Pineda, M.; Rivera, N.; García-Díaz, E.; Navas, P.; Paredes-Fuentes, A.J.; Moreno-Lozano, P.J.; Fortuna, T.R.; Rajan, D.S.; Pandey, U.B.; Salviati, L.
In: European Journal of Human Genetics . (European Journal of Human Genetics, April 2024, 32(4):426-434)
Academic Journal
Ortega, J.A.; Fleming, A.C.; McKenna, E.D.; Nguyen, T.P.; Kiskinis, E.; Sasselli, I.R.; Sato, K.; Clemons, T.D.; Stupp, S.I.; Boccitto, M.; Wolin, S.L.; Fortuna, T.R.; Anderson, E.N.; Pandey, U.B.; Li, Y.; Ichida, J.K.; Asin, J.
In: Science Advances . (Science Advances, November 2023, 9(45))
Academic Journal
Fortuna, T.R.; Kour, S.; Anderson, E.N.; Nelson IV, C.H.; Ward, C.; Chauhan, O.; Rajan, D.S.; Pandey, U.B.; Chimata, A.V.; Singh, A.; O’Brien, C.; Rajasundaram, D.; Muiños-Bühl, A.; Wirth, B.
In: Acta Neuropathologica . (Acta Neuropathologica, September 2023, 146(3):477-498)
Academic Journal
Ferrari, V.; Cristofani, R.; Tedesco, B.; Crippa, V.; Chierichetti, M.; Casarotto, E.; Cozzi, M.; Mina, F.; Galbiati, M.; Piccolella, M.; Rusmini, P.; Poletti, A.; Cicardi, M.E.; Carra, S.; Vaccari, T.; Nalbandian, A.; Kimonis, V.; Fortuna, T.R.; Pandey, U.B.; Gagliani, M.C.; Cortese, K.
In: Neuropathology and Applied Neurobiology . (Neuropathology and Applied Neurobiology, August 2022, 48(5))
Academic Journal
Rajan, D.S.; Kour, S.; Fortuna, T.R.; Pandey, U.B.; Cousin, M.A.; Barnett, S.S.; Niu, Z.; Babovic-Vuksanovic, D.; Klee, E.W.; Kirmse, B.; Innes, M.; Rydning, S.L.; Selmer, K.K.; Vigeland, M.D.; Erichsen, A.K.; Nemeth, A.H.; Schnekenberg, R.P.; Millan, F.; DeVile, C.; Fawcett, K.; Sims, D.; Legendre, A.; Burglen, L.; Mercier, S.; Bakhtiari, S.; Kruer, M.C.; Martinez-Salas, E.; Wigby, K.; Friedman, J.R.; Lenberg, J.
In: Frontiers in Cell and Developmental Biology . (Frontiers in Cell and Developmental Biology, 28 February 2022, 10)
Academic Journal
Kour, S.; Rajan, D.S.; Fortuna, T.R.; Anderson, E.N.; Ward, C.; Pandey, U.B.; Lee, Y.; Lee, S.; Choi, M.; Shin, Y.B.; Chae, J.-H.; Siquier, K.; Cantagrel, V.; Amiel, J.; Stolerman, E.S.; Barnett, S.S.; Cousin, M.A.; Castro, D.; McDonald, K.; Kirmse, B.; Nemeth, A.H.; Rajasundaram, D.; Innes, A.M.; Lynch, D.; Frosk, P.; Collins, A.; Gibbons, M.; Yang, M.; Desguerre, I.; Boddaert, N.; Gitiaux, C.; Rydning, S.L.; Selmer, K.K.; Urreizti, R.; Garcia-Oguiza, A.; Osorio, A.N.; Verdura, E.; Pujol, A.; McCurry, H.R.; Landers, J.E.; Agnihotri, S.; Andriescu, E.C.; Moody, S.B.; Phornphutkul, C.; Sacoto, M.J.G.; Begtrup, A.; Houlden, H.; Maroofian, R.; Kirschner, J.; Schorling, D.; Rudnik-Schöneborn, S.; Strom, T.M.; Leiz, S.; Juliette, K.; Richardson, R.; Yang, Y.; Zhang, Y.; Wang, M.; Wang, J.; Wang, X.; Platzer, K.; Donkervoort, S.; Bönnemann, C.G.; Wagner, M.; Issa, M.Y.; Elbendary, H.M.; Zaki, M.S.; Stanley, V.; Gleeson, J.G.; Senderek, J.
In: Nature Communications . (Nature Communications, 1 December 2021, 12(1))
Academic Journal
Fortuna, T.R.; Kour, S.; Anderson, E.N.; Ward, C.; Pandey, U.B.; Rajasundaram, D.; Donnelly, C.J.; Hermann, A.; Wyne, H.; Shewmaker, F.
In: Acta Neuropathologica . (Acta Neuropathologica, September 2021, 142(3):515-536)
Academic Journal
Otte, C.G.; Pyles, N.J.; Donnelly, C.J.; Mann, J.R.; Pandey, U.B.; Gleixner, A.M.; Fortuna, T.R.; Ramesh, N.
In: Neurobiology of Disease . (Neurobiology of Disease, December 2020, 146)
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[AR] Fortuna, T.R.
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