Publications

Found 32 results
Filters: Keyword is Age of Onset  [Clear All Filters]
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
1999
Bruno C, Kirby DM, Koga Y, Garavaglia B, Duran G, Santorelli FM, Shield LK, Xia W, Shanske S, Goldstein JD, Iwanaga R, Akita Y, Carrara F, Davis A, Zeviani M, Thorburn DR & DiMauro S (1999) The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy. J Pediatr 135, 197-202
Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L & Suomalainen A (1999) A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 65, 256-61
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
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
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
1995
Mariotti C, Uziel G, Carrara F, Mora M, Prelle A, Tiranti V, DiDonato S & Zeviani M (1995) Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. J Neurol 242, 547-56

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