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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
Pegoraro E, Carelli V, Zeviani M, Cortelli P, Montagna P, Barboni P, Angelini C & Hoffman EP (1996) X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am J Med Genet 61, 356-62
Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H & Peltonen L (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9, 146-51
Eoli M, Pandolfo M, Amoroso A, Salmaggi A, Zaffaroni M, Gasparini P, DiDonato S, Milanese C & Zeviani M (1995) Evidence of linkage between susceptibility to multiple sclerosis and HLA-class II loci in Italian multiplex families. Eur J Hum Genet 3, 303-11
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
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P & Zeviani M (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-65
Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C & Zeviani M (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 4, 1421-7
Tiranti V, Munaro M, Sandonà D, Lamantea E, Rimoldi M, DiDonato S, Bisson R & Zeviani M (1995) Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants. Hum Mol Genet 4, 2017-23
Melki J, Lefebvre S, Bürglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M & Le Paslier D (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474-7
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
Melki J, Lefebvre S, Bürglen L, Burlet P, Clermont O, Millasseau P, Reboulet S, Benichou B, Zeviani M & Le Paslier D (1994) [Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies]. C R Seances Soc Biol Fil 188, 495-8
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
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
Moraes CT, Zeviani M, Schon EA, Hickman RO, Vlcek BW & DiMauro S (1991) Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?. Am J Med Genet 41, 301-5
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
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S & DiDonato S (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339, 309-11
DiMauro S, Zeviani M, Moraes CT, Nakase H, Rizzuto R, Lombès A, Shanske S & Schon EA (1989) Mitochondrial encephalomyopathies. Prog Clin Biol Res 306, 117-28
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
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