Sfoglia per Autore
An international classification of inherited metabolic disorders (ICIMD)
2021 Ferreira, C. R.; Rahman, S.; Keller, M.; Zschocke, J.; Abdenur, J.; Ali, H.; Artuch, R.; Ballabio, A.; Barshop, B.; Baumgartner, M.; Bertini, E. S.; Blau, N.; Carelli, V.; Carroll, C.; Chinnery, P. F.; Christodoulou, J.; Cornejo, V.; Darin, N.; Derks, T.; Diodato, D.; Dionisi-Vici, C.; Duley, J. A.; Fukao, T.; Garcia-Cazorla, A.; Giugliani, R.; Goldstein, A.; Hoffmann, G.; Horvath, R.; Ibarra, I.; Inwood, A.; Jaeken, J.; Jimenez-Mallebrera, C.; Karaa, A.; Klopstock, T.; Kolker, S.; Kornblum, C.; Kozich, V.; Lamperti, C.; Larsson, N. -G.; Lemes, A.; Lewis, B.; Mancuso, M.; Mcfarland, R.; Mochel, F.; Montoya, J.; Morava, E.; Naess, K.; Okuyama, T.; Olry, A.; Paquis-Flucklinger, V.; Parikh, S.; Patterson, M.; Perez de Ferran, C.; Peters, V.; Prokisch, H.; Saada, A.; Salomons, G. S.; Saudubray, J. -M.; Scarpa, M.; Schara-Schmidt, U.; Schiff, M.; Servidei, S.; Smeitink, J.; Suomalainen, A.; Tangeraas, T.; Taylor, R. W.; Thiele, I.; Thorburn, D.; Van Hove, J.; Van der Ploeg, A. T.; Van Karnebeek, C.; Visser, G.; Vockley, J.; Wanders, R.; Webster, D.; Wedell, A.; Wiley, V.; Wredenberg, A.; Zeviani, M.
Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis
2021 Čunátová, Kristýna; Reguera, David Pajuelo; Vrbacký, Marek; Fernández-Vizarra, Erika; Ding, Shujing; Fearnley, Ian M; Zeviani, Massimo; Houštěk, Josef; Mráček, Tomáš; Pecina, Petr
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction
2021 Peruzzo, Roberta; Corrà, Samantha; Costa, Roberto; Brischigliaro, Michele; Varanita, Tatiana; Biasutto, Lucia; Rampazzo, Chiara; Ghezzi, Daniele; Leanza, Luigi; Zoratti, Mario; Zeviani, Massimo; De Pittà, Cristiano; Viscomi, Carlo; Costa, Rodolfo; Szabò, Ildikò
Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster
2021 Brischigliaro, M.; Frigo, E.; Corra, S.; De Pitta, C.; Szabo, I.; Zeviani, M.; Costa, R.
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations
2020 Zanette, Vanessa; Reyes, Aurelio; Johnson, Mark; do Valle, Daniel; Robinson, Alan J; Monteiro, Vaneisse; Telles, Bruno Augusto; L R Souza, Ricardo; S F Santos, Mara L; Benincá, Cristiane; Zeviani, Massimo
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
2020 Protasoni, M.; Bruno, C.; Donati, M. A.; Mohamoud, K.; Severino, M.; Allegri, A.; Robinson, A. J.; Reyes, A.; Zeviani, M.; Garone, C.
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
2020 Di Nottia, Michela; Marchese, Maria; Verrigni, Daniela; Mutti, Christian Daniel; Torraco, Alessandra; Oliva, Romina; Fernandez-Vizarra, Erika; Morani, Federica; Trani, Giulia; Rizza, Teresa; Ghezzi, Daniele; Ardissone, Anna; Nesti, Claudia; Vasco, Gessica; Zeviani, Massimo; Minczuk, Michal; Bertini, Enrico; Santorelli, Filippo Maria; Carrozzo, Rosalba
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network
2020 Hirano, M.; Carelli, V.; De Giorgio, R.; Pironi, L.; Accarino, A.; Cenacchi, G.; D'Alessandro, R.; Filosto, M.; Marti, R.; Nonino, F.; Pinna, A. D.; Baldin, E.; Bax, B. E.; Bolletta, A.; Bolletta, R.; Boschetti, E.; Cescon, M.; D'Angelo, R.; Dotti, M. T.; Giordano, C.; Gramegna, L. L.; Levene, M.; Lodi, R.; Mandel, H.; Morelli, M. C.; Musumeci, O.; Pugliese, A.; Scarpelli, M.; Siniscalchi, A.; Spinazzola, A.; Tal, G.; Torres-Torronteras, J.; Vignatelli, L.; Zaidman, I.; Zoller, H.; Rinaldi, R.; Zeviani, M.
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
2020 Bugiardini, E.; Bottani, E.; Marchet, S.; Poole, O. V.; Beninca, C.; Horga, A.; Woodward, C.; Lam, A.; Hargreaves, I.; Chalasani, A.; Valerio, A.; Lamantea, E.; Venner, K.; Holton, J. L.; Zeviani, M.; Houlden, H.; Quinlivan, R.; Lamperti, C.; Hanna, M. G.; Pitceathly, R. D. S.
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution
2020 Tort, Frederic; Barredo, Estibaliz; Parthasarathy, Ranjani; Ugarteburu, Olatz; Ferrer-Cortès, Xenia; García-Villoria, Judit; Gort, Laura; González-Quintana, Adrián; Martín, Miguel A; Fernández-Vizarra, Erika; Zeviani, Massimo; Ribes, Antonia
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
2020 Di Nottia, M.; Marchese, M.; Verrigni, D.; Mutti, C. D.; Torraco, A.; Oliva, R.; Fernandez-Vizarra, E.; Morani, F.; Trani, G.; Rizza, T.; Ghezzi, D.; Ardissone, A.; Nesti, C.; Vasco, G.; Zeviani, M.; Minczuk, M.; Bertini, E.; Santorelli, F. M.; Carrozzo, R.
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution
2020 Tort, Frederic; Barredo, Estibaliz; Parthasarathy, Ranjani; Ugarteburu, Olatz; Ferrer-Cortès, Xenia; García-Villoria, Judit; Gort, Laura; González-Quintana, Adrián; Martín, Miguel A; Fernández-Vizarra, Erika; Zeviani, Massimo; Ribes, Antonia
Awareness of rare and genetic neurological diseases among italian neurologist. A national survey
2020 Mancuso, M.; Filosto, M.; Lamperti, C.; Musumeci, O.; Santorelli, F. M.; Servidei, S.; Valente, E. M.; Zeviani, M.; Mancardi, G.; Tedeschi, G.; Federico, A.
Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer’s disease-like pathology in human cerebral organoids
2020 Perez, M. J.; Ivanyuk, D.; Panagiotakopoulou, V.; Di Napoli, G.; Kalb, S.; Brunetti, D.; Al-Shaana, R.; Kaeser, S. A.; Fraschka, S. A. -K.; Jucker, M.; Zeviani, M.; Viscomi, C.; Deleidi, M.
RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases
2020 Reyes, A.; Favia, P.; Vidoni, S.; Petruzzella, V.; Zeviani, M.
Strategies for fighting mitochondrial diseases
2020 Viscomi, Carlo; Zeviani, Massimo
Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV
2020 Protasoni, M.; Perez-Perez, R.; Lobo-Jarne, T.; Harbour, M. E.; Ding, S.; Penas, A.; Diaz, F.; Moraes, C. T.; Fearnley, I. M.; Zeviani, M.; Ugalde, C.; Fernandez-Vizarra, E.
A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4−/− Mice
2020 Silva-Pinheiro, P.; Cerutti, R.; Luna-Sanchez, M.; Zeviani, M.; Viscomi, C.
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
2020 Beninca, C.; Zanette, V.; Brischigliaro, M.; Johnson, M.; Reyes, A.; Valle, D. A. D.; J. Robinson, A.; Degiorgi, A.; Yeates, A.; Telles, B. A.; Prudent, J.; Baruffini, E.; S. F. Santos M., L.; R. De Souza R., L.; Fernandez-Vizarra, E.; J. Whitworth, A.; Zeviani, M.
Mitochondrial disorders of the oxphos system
2020 Fernandez-Vizarra, Erika; Zeviani, Massimo
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