F. Carrara

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

Antonio Torroni, M. Petrozzi, Leila D'Urbano et al. · PubMed · 1997 · 417 citations

Clinical and molecular findings in children with complex I deficiency

Marianna Bugiani, Federica Invernizzi, Simona Alberio et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2004 · 259 citations

Down Syndrome, Primary Immunodeficiency, Developmental Anomaly +10

Clinical and molecular features of mitochondrial DNA depletion syndromes

Antonella Spinazzola, Federica Invernizzi, F. Carrara et al. · Journal of Inherited Metabolic Disease · 2008 · 186 citations

A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNA^Lys Gene

Massimo Zeviani, Francesco Muntoni, N Savarese et al. · European Journal of Human Genetics · 1993 · 159 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +8

Epileptic phenotypes associated with mitochondrial disorders

Laura Canafoglia, Silvana Franceschetti, Carlo Antozzi et al. · Neurology · 2001 · 156 citations