Publications

Found 6 results
Filters: Keyword is Epilepsies, Myoclonic  [Clear All Filters]
1999
Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E & Zeviani M (1999) A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus. Neuromuscul Disord 9, 66-71
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
1991
Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A & DiDonato S (1991) Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 48, 203-11
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