Publications

Found 17 results
Filters: Keyword is MELAS Syndrome  [Clear All Filters]
2014
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco ECaldarazzo, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FMaria, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2014) The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?. J Neurol 261, 504-10
2012
Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R & Zeviani M (2012) MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. Neuromuscul Disord 22, 990-4
2011
Salsano E, Giovagnoli ARita, Morandi L, Maccagnano C, Lamantea E, Marchesi C, Zeviani M & Pareyson D (2011) Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation. J Neurol Sci 300, 165-8
2006
Kirino Y, Yasukawa T, Marjavaara SK, Jacobs HT, Holt IJ, Watanabe K & Suzuki T (2006) Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect. Hum Mol Genet 15, 897-904
2003
Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MPaola, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G & Comi GPietro (2003) A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 60, 1857-61
2001
Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M & Avanzini G (2001) Epileptic phenotypes associated with mitochondrial disorders. Neurology 56, 1340-6
Corona P, Antozzi C, Carrara F, D'Incerti L, Lamantea E, Tiranti V & Zeviani M (2001) A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 49, 106-10
2000
Börner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmüller H, Pongratz D, Klopstock T, Melberg A, Holme E & Pääbo S (2000) Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Genet 9, 467-75
Uziel G, Carrara F, Granata T, Lamantea E, Mora M & Zeviani M (2000) Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case. Neuromuscul Disord 10, 415-8
Jacobs HT & Holt IJ (2000) The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't. Hum Mol Genet 9, 463-5
1997
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F & Zeviani M (1997) Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 63, 16-22
Tengan CH, Gabbai AA, Shanske S, Zeviani M & Moraes CT (1997) Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle. Mutat Res 379, 1-11
1996
Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M & Mastropaolo C (1996) Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev 18, 185-91
Dunbar DR, Moonie PA, Zeviani M & Holt IJ (1996) Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. Hum Mol Genet 5, 123-29
1995
Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S & Zeviani M (1995) Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 242, 304-12
1993
Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C & DiDonato S (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1, 80-7
1992
Zeviani M & Antozzi C (1992) Defects of mitochondrial DNA. Brain Pathol 2, 121-32