MITOCHONDRIAL ENCEPHALOMYOPATHIES WITH CYTOCHROME C OXIDASE DEFICIENCY: ROLE OF NUCLEAR GENES
- 2 Anni 2000/2002
- 46.998€ Totale Fondi
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Pubblicazioni Scientifiche
- 2002 ARCHIVES OF NEUROLOGY
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA
- 2002 BIOCHEMICAL JOURNAL
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
- 2002 ARCHIVES OF NEUROLOGY
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease
- 2002 ANNALS OF NEUROLOGY
Mitochondrial DNA depletion and dGK gene mutations
- 2002 NEUROMUSCULAR DISORDERS
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
- 2003 PEDIATRIC RESEARCH
Mutation screening in patients with isolated cytochrome c oxidase deficiency
- 2002 NEUROLOGY
Mitochondrial DNA depletion - Mutations in thymidine kinase gene with myopathy and SMA
