Publications

Found 254 results
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1998
Estivill X, Govea N, Barceló E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M & Torroni A (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 62, 27-35
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B & Ballabio A (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93, 973-83
Scaioli V, Antozzi C, Villani F, Rimoldi M, Zeviani M, Panzica F & Avanzini G (1998) Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy. Ital J Neurol Sci 19, 291-300
1997
Zeviani M, Fernandez-Silva P & Tiranti V (1997) Disorders of mitochondria and related metabolism. Curr Opin Neurol 10, 160-7
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
Kaukonen JA, Amati P, Suomalainen A, Rotig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L & Zeviani M (1996) An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 58, 763-9
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
Malandrini A, Carrera P, Palmeri S, Cavallaro T, Fabrizi GM, Villanova M, Fattapposta M, Vismara L, Brancolini V, Tanganelli P, Calì A, Morocutti C, Zeviani M, Ferrari M & Guazzi GC (1996) Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy. Acta Neuropathol 92, 115-22
Zeviani M, Bertagnolio B & Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19, 504-20
1995
Antozzi C, Franceschetti S, Filippini G, Barbiroli B, Savoiardo M, Fiacchino F, Rimoldi M, Lodi R, Zaniol P & Zeviani M (1995) Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency. J Neurol Sci 129, 152-61
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
1994
Mariotti C, Tiranti V, Carrara F, Dallapiccola B, DiDonato S & Zeviani M (1994) Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. J Clin Invest 93, 1102-7
Prelle A, Fagiolari G, Checcarelli N, Moggio M, Battistel A, Comi GP, Bazzi P, Bordoni A, Zeviani M & Scarlato G (1994) Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level. Acta Neuropathol 87, 371-6
Eoli M, Pandolfo M, Milanese C, Gasparini P, Salmaggi A & Zeviani M (1994) The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients. J Neurol 241, 615-9
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
Franceschetti S, Antozzi C, Binelli S, Carrara F, Nardocci N, Zeviani M & Avanzini G (1993) Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases. Acta Neurol Scand 87, 219-23
DiDonato S, Zeviani M, Giovannini P, Savarese N, Rimoldi M, Mariotti C, Girotti F & Caraceni T (1993) Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients. Neurology 43, 2262-8
1991
Arenas J, Ricoy JR, Encinas AR, Pola P, D'Iddio S, Zeviani M, DiDonato S & Corsi M (1991) Carnitine in muscle, serum, and urine of nonprofessional athletes: effects of physical exercise, training, and L-carnitine administration. Muscle Nerve 14, 598-604
Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, Di Mauro S, Di Donato S & Tonali P (1991) Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 41, 1053-9
Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Villani F, Tiranti V & DiDonato S (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet 338, 143-7
1990
Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G & DiDonato S (1990) Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 47, 904-14
1989
Lombès A, Mendell JR, Nakase H, Barohn RJ, Bonilla E, Zeviani M, Yates AJ, Omerza J, Gales TL & Nakahara K (1989) Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics. Ann Neurol 26, 20-33
1988
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA & Rowland LP (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38, 1339-46
1986
DiMauro S, Zeviani M, Servidei S, Bonilla E, Miranda AF, Prelle A & Schon EA (1986) Cytochrome oxidase deficiency: clinical and biochemical heterogeneity. Ann N Y Acad Sci 488, 19-32

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