ZEVIANI, MASSIMO
ZEVIANI, MASSIMO
Dipartimento di Neuroscienze - DNS
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network
2016 Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Carelli, Valerio; Comi, Giacomo Pietro; Federico, Antonio; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana; Tonin, Paola; Toscano, Antonio; Bruno, Claudio; Ienco, Elena Caldarazzo; Filosto, Massimiliano; Lamperti, Costanza; Diodato, Daria; Moroni, Isabella; Musumeci, Olimpia; Pegoraro, Elena; Spinazzi, Marco; Ahmed, Naghia; Sciacco, Monica; Vercelli, Liliana; Ardissone, Anna; Zeviani, Massimo; Siciliano, Gabriele
155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands
2008 Chinnery, P. F.; Zeviani, M.
[Metabolic myopathies]
1991 Finocchiaro, G; Zeviani, M; Garavaglia, B; Gellera, C; Bertagnolio, B; Rimoldi, M; Di Donato, S
[Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies]
1994 Melki, J; Lefebvre, S; Burglen, L; Burlet, P; Clermont, O; Millasseau, P; Reboulet, S; Benichou, B; Zeviani, M; Le Paslier, D
A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation
2013 Saracchi, E.; Difrancesco, J. C.; Brighina, L.; Marzorati, L.; Curto, N. A.; Lamperti, C.; Carrara, F.; Zeviani, M.; Ferrarese, C.
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.
1989 Schon, Ea; Rizzuto, Rosario; Moraes, Ct; Nakase, H; Zeviani, M; Dimauro, S.
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers
1999 Arenas, J.; Campos, Y.; Bornstein, B.; Ribacoba, R.; Martin, M. A.; Rubio, J. C.; Santorelli, F. M.; Zeviani, M.; Dimauro, S.; Garesse, R.
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): Evidence of mitochondrial dysfunction
2015 Ghezzi, D.; Canavese, C.; Kovacevic, G.; Zamurovic, D.; Barzaghi, C.; Giorgi, C.; Zorzi, G.; Zeviani, M.; Pinton, P.; Garavaglia, B.; Nardocci, N.
A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis
1991 Tiranti, V.; Barat-gueride, M.; Bijl, J.; Didonato, S.; Zeviani, M.
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.
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
A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity
2013 Invernizzi, F.; Tigano, M.; Dallabona, C.; Donnini, C.; Ferrero, I.; Cremonte, M.; Ghezzi, D.; Lamperti, C.; Zeviani, M.
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene
1993 Zeviani, M.; Muntoni, F.; Savarese, N.; Serra, G.; Tiranti, V.; Carrara, F.; Mariotti, C.; Didonato, S.
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
2003 Crimi, M.; Galbiati, S.; Moroni, I.; Bordoni, A.; Perini, M. P.; Lamantea, E.; Sciacco, M.; Zeviani, M.; Biunno, I.; Moggio, M.; Scarlato, G.; Comi, G. P.
A myopathy, lactic acidosis, sideroblastic anemia (MLASA) case due to a novel PUS1 mutation
2017 Kasapkara, C. S.; Tumer, L.; Zanetti, N.; Ezgu, F.; Lamantea, E.; Zeviani, M.
A nonsense mutation in the NDUFS4 gene encoding the 18 kDA (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
2001 Petruzzella, V.; Vergari, R.; Puzziferri, I.; Boffoli, D.; Lamantea, E.; Zeviani, M.; Papa, S.
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy
2015 Bee, Leonardo; Nasca, A.; Zanolini, A.; Cendron, Filippo; D'Adamo, P.; Costa, Rodolfo; Lamperti, C.; Celotti, Lucia; Ghezzi, D.; Zeviani, M.
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
2017 Legati, A.; Reyes, A.; Ceccatelli Berti, C.; Stehling, O.; Marchet, S.; Lamperti, C.; Ferrari, A.; Robinson, A. J.; Muhlenhoff, U.; Lill, R.; Zeviani, M.; Goffrini, P.; Ghezzi, D.
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome
2000 Tiranti, V.; Corona, P.; Greco, M.; Taanman, J. -W.; Carrara, F.; Lamantea, E.; Nijtmans, L.; Uziel, G.; Zeviani, M.
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
2012 Lamperti, C.; Fang, M.; Invernizzi, F.; Liu, X.; Wang, H.; Zhang, Q.; Carrara, F.; Moroni, I.; Zeviani, M.; Zhang, J.; Ghezzi, D.