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Marina Mattiazzi

University of Bologna

9

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315

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Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993

2007 Biochimica et Biophysica Acta
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Biochemical dysfunction associated with mitochondrial DNA mutations at nt8993.

2006
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Comparative bioenergetic studies of cells carrying the 8993T>G or 8993T>C mitochondrial DNA mutations.

2006
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Screening for Candidate Nuclear Modifying Genes in a Large Brazilian Pedigree with Leber’s Hereditary Optic Neuropathy

2006 Investigative Ophthalmology & Visual Science
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Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees

2006 American Journal of Human Genetics
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Characterization of optic neuropathy in Friedreich Ataxia.

2005 Neurological Sciences
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Characterization of optic neuropathy in Friedreich Ataxia.

2005
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Antioxidants improve OXPHOS in cells harboring the mtDNA T8993G (NARP) mutation

2004
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