Sfoglia per Titolo
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions
2018 Reyes, Aurelio; Melchionda, Laura; Burlina, Alberto; Robinson, Alan J; Ghezzi, Daniele; Zeviani, Massimo
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
2011 Ghezzi, D; Arzuffi, P; Zordan, MAURO AGOSTINO; DA RE', Caterina; Lamperti, C; Benna, Clara; D'Adamo, P; Diodato, D; Costa, Rodolfo; Mariotti, C; Uziel, G; Smiderle, C; Zeviani, M.
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
2003 Agostino, A.; Valletta, L.; Chinnery, P. F.; Ferrari, G.; Carrara, F.; Taylor, R. W.; Schaefer, A. M.; Turnbull, D. M.; Tiranti, V.; Zeviani, M.
Mutations of cis-acting splicing signals in a class ll mitochondrial intron.
1986 Carignani, Giovanna; Onisto, Maurizio; Bergantino, Elisabetta
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.
2014 De Rocco, D; Cerqua, C; Goffrini, P; Russo, G; Pastore, A; Meloni, F; Nicchia, E; Moraes, Ct; Pecci, A; Salviati, Leonardo; Savoia, A.
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
2010 Corrado, L; DEL BO, R; Castellotti, B; Ratti, A; Cereda, C; Penco, S; Soraru', Gianni; Carlomagno, Y; Ghezzi, S; Pensato, V; Colombrita, C; Gagliardi, S; Cozzi, L; Orsetti, V; Mancuso, M; Siciliano, G; Mazzini, L; Comi, Gp; Gellera, C; Ceroni, M; D'Alfonso, S; Silani, V.
Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome
2008 Bercovich, D; Ganmore, I; Scott, Lm; Wainreb, G; Birger, Y; Elimelech, A; Chen, Sc; Cazzaniga, G; Biondi, A; Basso, Giuseppe; Cario, G; Schrappe, M; Stanulla, M; Strehl, S; Haas, Oa; Mann, G; Binder, V; Borkhardt, A; Kempski, H; Trka, J; Bielorei, B; Avigad, S; Stark, B; Smith, O; Dastugue, N; Bourquin, Jp; BEN TAL, N; Green, Ar; Izraeli, S.
Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
2002 Lamantea, E.; Tiranti, V.; Bordoni, A.; Toscano, A.; Bono, F.; Servidei, S.; Papadimitriou, A.; Spelbrink, H.; Silvestri, L.; Casari, G.; Comi, G. P.; Zeviani, M.
Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: A report from the italian AIEOP study group
2016 Bresolin, Silvia; De Filippi, P; Vendemini, F; D'Alia, M; Zecca, M; Meyer L., H; Danesino, C; Locatelli, F; Masetti, R; Basso, Giuseppe; TE KRONNIE, Geertrudy
Mutations of SURF-1 in Leigh disease associated with cytochrome C oxidase deficiency
1998 Tiranti, V.; Hoertnagel, K.; Carrozzo, R.; Calimberti, C.; Munaro, M.; Granatiero, M.; Zelante, L.; Gasparini, P.; Marzella, R.; Rocchi, M.; Pilar Bayona-Bafaluy, M.; Enriquez, J. -A.; Uziel, G.; Bertini, E.; Dionisi-Vici, C.; Franco, B.; Meitinger, T.; Zeviani, M.
Mutations of surnames in the Italian-Slovenian border region.
2011 Enzo, Lucchetti; Miro, Tasso; Amoruso, Irene; Gianumberto, Caravello
Mutations of the Cardiac Ryanodine Receptor (RyR2) Gene in Familial Polymorphic Ventricular Tachycardia
2001 Laitinen, P. J.; Brown, K. M.; Piippo, K; Swan, H; Devaney, J. M.; Brahmbhatt, B; Donarum, E. A.; Marino, M; Tiso, Natascia; Viitasalo, M; Toivonen, L; Stephan, D. A.; Kontula, K.
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
2001 Laitinen, Pj; Brown, Km; Piippo, K; Swam, H; Devaney, Jm; Brahmbhatt, B; Donarum, Ea; Marino, M; Tiso, Natascia; Viitasalo, M; Toivonen, L; Stephan, Da; Kontula, K.
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis
2012 Ghezzi, D.; Baruffini, E.; Haack, T. B.; Invernizzi, F.; Melchionda, L.; Dallabona, C.; Strom, T. M.; Parini, R.; Burlina, A. B.; Meitinger, T.; Prokisch, H.; Ferrero, I.; Zeviani, M.
Mutations of the same sequence of the myelin PO gene causing two different phenotypes
1998 Schiavon, F.; Rampazzo, A.; Merlini, L.; Angelini, C.; Mostacciuolo, M. L.
Mutations of the same sequence of the myelin PO gene causing two different phenotypes
1998 Schiavon, F.; Rampazzo, A.; Merlini, L.; Angelini, C.; Mostacciuolo, M. L.
Mutations of The Twik- Related Acid-Sensitive K+ Channel 2 (TASK-2) Promoter in Human Primary Aldosteronism
2018 Lenzini, Livia; Prisco, Selene; Gallina, Michele; Kuppusamy, Maniselvan; Rossi, Gian Paolo
Mutations of the Twik-Related Acid-Sensitive K+ Channel 2 Promoter in Human Primary Aldosteronism
2018 Lenzini, Livia; Prisco, Selene; Gallina, Michele; Kuppusamy, Maniselvan; Rossi, Gian Paolo
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.
1996 Mcnally, Em; Duggan, D; Gorospe, Jr; Bönnemann, Cg; Fanin, Marina; Pegoraro, Elena; Lidov, Hg; Noguchi, S; Ozawa, E; Finkel, Rs; Cruse, Rp; Angelini, Corrado; Kunkel, Lm; Hoffman, Ep
Mutations vs. Seiberg duality
2009 Vitória, Jorge
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